Jin M, Akgün K, Ziemssen T, Kipp M, Günther R, Hermann A.
Interleukin-17 and Th17 Lymphocytes Directly Impair Motoneuron Survival of Wildtype and FUS-ALS
Mutant Human iPSCs. Int J Mol Sci. 2021 Jul 27;22(15):8042. doi: 10.3390/ijms22158042. PMID: 34360808. Free Full Text

Quick S, Heidrich FM, Winkler MV, Winkler AH, Ibrahim K, Linke A, Speiser U, Grabmaier U, Buhmann C, Marxreiter F, Saft C, Danek A, Hermann A, Peikert K.
Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome.
Parkinsonism Relat Disord. 2021 Jul;88:90-95. doi: 10.1016/j.parkreldis.2021.05.015. Epub 2021 May 24. PMID: 34153885.

Hartmann A, Hartmann C, Secci R, Hermann A, Fuellen G, Walter M.
Ranking Biomarkers of Aging by Citation Profiling and Effort Scoring.
Front Genet. 2021 May 21;12:686320. doi: 10.3389/fgene.2021.686320. PMID: 34093670; PMCID: PMC8176216. Free Full Text

Darras A, Peikert K, Rabe A, Yaya F, Simionato G, John T, Dasanna AK, Buvalyy S, Geisel J, Hermann A, Fedosov DA, Danek A, Wagner C, Kaestner L. Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification.
Cells. April 2021; 10(4):788. doi: 10.3390/cells10040788 Free Full Text

Peikert K, Glaß H, Federti E, Matte A, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, The Network for Translational Research for
Neuroacanthocytosis Patients, De Franceschi L, Hermann A.
Targeting Lyn Kinase in Chorea-Acanthocytosis: A Translational Treatment Approach in a Rare Disease.
J. Pers. Med. 2021, 11, 392. doi: 10.3390/jpm11050392 Free Full Text

Peikert K, Federti E, Matte A, Constantin G, Pietronigro EC, Fabene PF, Defilippi P, Turco E, Del Gallo F, Pucci P, Amoresano A, Illiano A, Cozzolino F,
Monti M, Garello F, Terreno E, Alper SL, Glaß H, Pelzl L, Akgün K, Ziemssen T, Ordemann R, Lang F, Brunati AM, Tibaldi E, Andolfo I, Iolascon A, Bertini G,
Buffelli M, Zancanaro C, Lorenzetto E, Siciliano A, Bonifacio M, Danek A, Walker RH, Hermann A, De Franceschi L. 
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis. 
Acta Neuropathol Commun. 2021 May 3;9(1):81. doi: 10.1186/s40478-021-01181-y. PMID: 33941276; PMCID: PMC8091687. Free Full Text

Rabe A, Kihm A, Darras A, Peikert K, Simionato G, Dasanna AK, Glaß H, Geisel J, Quint S, Danek A, Wagner C, Fedosov DA, Hermann A, Kaestner L.
The Erythrocyte Sedimentation Rate and Its Relation to Cell Shape and Rigidity of Red Blood Cells from Chorea-Acanthocytosis Patients in an Off-Label Treatment with Dasatinib.
Biomolecules 2021, 11, 727. doi: 10.3390/biom11050727 Free Full Text

Tripathi P, Guo H, Dreser A, Yamoah A, Sechi A, Jesse CM, Katona I, Doukas P, Nikolin S, Ernst S, Aronica E, Glaß H, Hermann A, Steinbusch H, Feller AC, Bergmann M, Jaarsma D, Weis J, Goswami A.
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Cell Death Dis. 2021 May 10;12(5):466. doi: 10.1038/s41419-021-03710-y. PMID: 33972508; PMCID: PMC8110809. Free Full Text

Freischmidt A, Goswami A, Limm K, Zimyanin VL, Demestre M, Glaß H, Holzmann K, Helferich AM, Brockmann SJ, Tripathi P, Yamoah A, Poser I, Oefner PJ, Böckers TM, Aronica E, Ludolph AC, Andersen PM, Hermann A, Weis J, Reinders J, Danzer KM, Weishaupt JH.
A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.
Brain. 2021 May 7;144(4):1214-1229. doi:10.1093/brain/awab018. PMID: 33871026; PMCID: PMC8105042. Free Full Text

Peters S, Kuespert S, Wirkert E, Heydn R, Jurek B, Johannesen S, Hsam O, Korte S, Ludwig FT, Mecklenburg L, Mrowetz H, Altendorfer B, Poupardin R, Petri S, Thal DR, Hermann A, Weishaupt JH, Weis J, Aksoylu IS, Lewandowski SA, Aigner L, Bruun TH, Bogdahn U.
Reconditioning the Neurogenic Niche of Adult Non-human Primates by Antisense Oligonucleotide-Mediated Attenuation of TGFβ Signaling.
Neurotherapeutics. 2021 Apr 15. doi: 10.1007/s13311-021-01045-2. Epub ahead of print. PMID: 33860461. Free Full Text

Kutschenko A, Staege S, Grütz K, Glaß H, Kalmbach N, Gschwendtberger T, Henkel LM, Heine J, Grünewald A, Hermann A, Seibler P, Wegner F.
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Int J Mol Sci. 2021 Mar 30;22(7):3565. doi: 10.3390/ijms22073565. PMID: 33808167; PMCID: PMC8037318. Free Full Text

Hölzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M, Tüngler V.
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.
J Neurol. 2021 Mar 9. doi: 10.1007/s00415-021-10492-y. Epub ahead of print. PMID: 33751187. Free Full Text

Seifert A, Drechsler H, Japtok J, Korten T, Diez S, Hermann A.
The ALS-Associated FUS (P525L) Variant Does Not Directly Interfere with Microtubule-Dependent Kinesin-1 Motility.
Int J Mol Sci. 2021 Feb 28;22(5):2422. doi:10.3390/ijms22052422. PMID: 33670886; PMCID: PMC7957795. Free Full Text

Pal A, Kretner B, Abo-Rady M, Glaβ H, Dash BP, Naumann M, Japtok J, Kreiter N, Dhingra A, Heutink P, Böckers TM, Günther R, Sterneckert J, Hermann A.
Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis.
Life Sci Alliance. 2021 Feb 22;4(4):e202000764. doi:10.26508/lsa.202000764. PMID: 33619157; PMCID: PMC7918691. Free Full Text

Szewczyk B, Günther R, Sterneckert J, Petri S, Wegner F, Hermann A.
FUS Is Not Mislocalized in Spinal Motor Neurons Derived From Human Induced Pluripotent Stem Cells of Main Non-FUS ALS Subtypes.
J Neuropathol Exp Neurol. 2021 Jan 15:nlaa154. doi: 10.1093/jnen/nlaa154. Epub ahead of print. PMID: 33448295. Free Full Text

Völkner C, Liedtke M, Hermann A, Frech MJ.
Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.
Int J Mol Sci. 2021 Jan 12;22(2):710. doi: 10.3390/ijms22020710. PMID: 33445799; PMCID: PMC7828283. Free Full Text

Loewenbrück KF, Werner R, Günther R, Dittrich M, Klingenberger R, Reichmann H, Storch A, Hermann A.
One nerve suffices: A clinically guided nerve ultrasound protocol for the differentiation of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis (ALS).
J Neurol. 2020 Dec 23. doi: 10.1007/s00415-020-10323-6. Epub ahead of print. PMID: 33355881. Free Full Text

Beyer L, Günther R, Koch JC, Klebe S, Hagenacker T, Lingor P, Biesalski AS, Hermann A, Nabers A, Gold R, Tönges L, Gerwert K.
TDP-43 as structure-based biomarker in amyotrophic lateral sclerosis.
Ann Clin Transl Neurol. 2021 Jan;8(1):271-277. doi: 10.1002/acn3.51256. Epub 2020 Dec 2. PMID: 33263951;
PMCID: PMC7818221. Free Full Text


Petters J, Völkner C, Krohn S, Murua Escobar H, Bullerdiek J, Reuner U, Frech MJ, Hermann A, Lukas J.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Stem Cell Res. 2020 Nov 5;49:102079. doi: 10.1016/j.scr.2020.102079. Epub ahead of print. PMID:33197697. Free Full Text

Völkner C, Liedtke M, Petters J, Huth K, Knuebel G, Murua Escobar H, Bullerdiek J, Lukas J, Hermann A, Frech MJ.
Generation of an iPSC line (AKOSi006-A) from fibroblasts of a NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system. Stem Cell Res. 2020 Oct 16;49:102056. doi:10.1016/j.scr.2020.102056. Epub ahead of print. PMID: 33099109. Free Full Text

Jürs AV, Völkner C, Liedtke M, Huth K, Lukas J, Hermann A, Frech MJ.
Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells.
Int J Mol Sci. 2020 Oct 16;21(20):7667. doi: 10.3390/ijms21207667. PMID: 33081384; PMCID: PMC7593914. Free Full Text

Fauser M, Weselek G, Hauptmann C, Markert F, Gerlach M, Hermann A, Storch A.
Catecholaminergic Innervation of Periventricular Neurogenic Regions of the Developing Mouse Brain.
Front Neuroanat. 2020 Sep 23;14:558435. doi: 10.3389/fnana.2020.558435. PMID: 33071762; PMCID: PMC7538673. Free Full Text

Dash BP, Naumann M, Sterneckert J, Hermann A.
Genome Wide Analysis Points towards Subtype-Specific Diseases in Different Genetic Forms of Amyotrophic Lateral Sclerosis.
Int J Mol Sci. 2020 Sep 21;21(18):6938. doi: 10.3390/ijms21186938. PMID: 32967368; PMCID: PMC7555318. Free Full Text

Peikert K, Akgün K, Beste C, Ziemssen T, Buhmann C, Danek A, Hermann A.
Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis.
Parkinsonism Relat Disord. 2020 Sep 7;80:28-31. doi: 10.1016/j.parkreldis.2020.09.004. Epub ahead of print. PMID: 32932025.

Dorst J, Schuster J, Dreyhaupt J, Witzel S, Weishaupt JH, Kassubek J, Weiland U, Petri S, Meyer T, Grehl T, Hermann A, Jordan B, Grosskreutz J, Zeller D, Boentert M, Schrank B, Prudlo J, Winkler AS, Gorbulev S, Roselli F, Dupuis L, Otto M, Ludolph AC.
Effect of high-caloric nutrition on serum neurofilament light chain levels in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry. 2020 Sep;91(9):1007-1009. doi: 10.1136/jnnp-2020-323372. Epub 2020 Aug 11. PMID: 32788256.

Naumann M, Laubenthal J, Hermann A.
Fused in sarcoma-amyotrophic lateral sclerosis as a novel member of DNA single strand break diseases with pure
neurological phenotypes.
Neural Regen Res. 2021 Jan;16(1):110-112. doi: 10.4103/1673-5374.286963 PMID: 32788458. Free Full Text

Frank A, Peikert K, Linn J, Brandt MD, Hermann A.
MDS criteria for the diagnosis of progressive supranuclear palsy overemphasize Richardson syndrome.
Ann Clin Transl Neurol. 2020 Jul 31. doi: 10.1002/acn3.51065. Epub ahead of print. PMID: 32735745. Free Full Text

Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU.
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Int J Mol Sci. 2020 Jun 24;21(12):4502. doi: 10.3390/ijms21124502. PMID: 32599915; PMCID: PMC7352403. Free Full Text

Berenguer-Escuder C, Grossmann D, Antony P, Arena G, Wasner K, Massart F, Jarazo J, Walter J, Schwamborn JC, Grünewald A, Krüger R.
Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease. Hum Mol Genet. 2020 May 28;29(8):1353-1364. doi: 10.1093/hmg/ddaa066. PMID: 32280985; PMCID: PMC7254851. Free Full Text

Rach C, Lukas J, Müller R, Sendler M, Simon P, Salloch S.
Involving Patient Groups in Drug Research: A Systematic Review of Reasons.
Patient Prefer Adherence. 2020 Mar 12;14:587-597. doi: 10.2147/PPA.S232499. PMID: 32210544; PMCID: PMC7075437. Free Full Text

Weselek G, Keiner S, Fauser M, Wagenführ L, Müller J, Kaltschmidt B, Brandt MD, Gerlach M, Redecker C, Hermann A, Storch A.
Norepinephrine is a negative regulator of the adult periventricular neural stem cell niche.
Stem Cells. 2020 May 30. doi: 10.1002/stem.3232. Epub ahead of print. PMID: 32473039. Free Full Text

Meyer T, Kettemann D, Maier A, Grehl T, Weyen U, Grosskreutz J, Steinbach R, Norden J, George A, Hermann A, Guenther R, Petri S, Schreiber-Katz O, Dorst J, Ludolph AC, Walter B, Münch C, Spittel S.
Symptomatic pharmacotherapy in ALS: data analysis from a platform-based medication management programme.
J Neurol Neurosurg Psychiatry. 2020 Apr 21. pii: jnnp-2020-322938. doi: 10.1136/jnnp-2020-322938. [Epub ahead of print] PubMed PMID: 32317400. Free Full Text

Keller S, Polanski WH, Enzensperger C, Reichmann H, Hermann A, Gille G.
9-Methyl-β-carboline inhibits monoamine oxidase activity and stimulates the expression of neurotrophic factors by astrocytes.
J Neural Transm (Vienna). 2020 Apr 13. doi: 10.1007/s00702-020-02189-9. [Epub ahead of print] PubMed PMID:32285253. Free Full Text

Jin M, Günther R, Akgün K, Hermann A, Ziemssen T.
Peripheral proinflammatory Th1/Th17 immune cell shift is linked to disease severity in amyotrophic lateral sclerosis.
Sci Rep. 2020 Apr 3;10(1):5941. doi: 10.1038/s41598-020-62756-8. PubMed PMID: 32246039; PubMed Central PMCID: PMC7125229. Free Full Text

Hagenacker T, Wurster CD, Günther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Mönninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C.
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Lancet Neurol. 2020 Apr;19(4):317-325. doi:10.1016/S1474-4422(20)30037-5. PubMed PMID: 32199097.

Glaß H, Neumann P, Pal A, Reinhardt P, Storch A, Sterneckert J, Hermann A.
Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Int. J. Mol. Sci. 2020 March 5, 21(5), 1797; doi: 10.3390/ijms21051797 Free Full Text

Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T, Freitag P, Bickle M, Kahlert AK, Petri S, Stefanov S, Glass H, Staege S, Just W, Bhatnagar R, Edbauer D, Hermann A, Wegner F, Sterneckert JL.
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Stem Cell Reports. 2020 Feb 5. pii: S2213-6711(20)30031-X. doi: 10.1016/j.stemcr.2020.01.010. [Epub ahead of print] PubMed PMID: 32084385. Free Full Text

Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J.
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.
Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. PubMed PMID: 31899485. Free Full Text

Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Escobar HM, Frech MJ, Hermann A, Rolfs A, Lukas J.
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson
Stem Cell Res. 2020 Jan 27;43:101708. doi: 10.1016/j.scr.2020.101708. [Epub ahead of print] PubMed PMID: 32028086.Free Full Text

Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A.
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Int. J. Mol. Sci. 2020, 21(3), 956; doi: 10.3390/ijms21030956 Free Full Text

Kuta R, Larochelle N, Fernandez M, Pal A, Minotti S, Tibshirani M, St Louis K, Gentil BJ, Nalbantoglu JN, Hermann A, Durham HD.
Depending on the stress, histone deacetylase inhibitors act as heat shock protein co-inducers in motor neurons and potentiate arimoclomol, exerting neuroprotection through multiple mechanisms in ALS models.
Cell Stress Chaperones. 2020 Jan 3. doi: 10.1007/s12192-019-01064-1. [Epub ahead of print] PubMed PMID: 31900865. Free Full Text


Srimasorn S, Kirsch M, Hallmeyer-Ellgner S, Lindemann D, Storch A, Hermann A. 
Increased Neuronal Differentiation Efficiency in High Cell Density-Derived Induced Pluripotent Stem Cells.
Stem Cells Int. 2019 Dec 4;2019:2018784. doi: 10.1155/2019/2018784. eCollection 2019. PubMed PMID: 31871463; PubMed Central
PMCID: PMC6913159. Free Full Text

Rabenstein M, Murr N, Hermann A, Rolfs A, Frech MJ.
Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice.
Int J Mol Sci, 2019, doi: 10.3390/ijms20246288. Free Full Text

Srimasorn S, Kirsch M, Hallmeyer-Ellgner S, Lindemann D, Storch A, Hermann A.
Increased Neuronal Differentiation Efficiency in High Cell Density-Derived Induced Pluripotent Stem Cells.
Stem Cells International, 2019, Article ID 2018784. doi: 10.1155/2019/2018784. Free Full Text

Nihei Y, Mori K, Werner G, Arzberger T, Zhou Q, Khosravi B, Japtok J, Hermann A, Sommacal A, Weber M; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Edbauer D, Haass C.
Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.
Acta Neuropathol. 2019 Oct 23. doi: 10.1007/s00401-019-02082-0. [Epub ahead of print] PubMed PMID: 31642962. Free Full Text

Naumann M, Peikert K, Günther R, van der Kooi AJ, Aronica E, Hübers A, Danel V, Corcia P, Pan-Montojo F, Cirak S, Haliloglu G, Ludolph AC, Goswami A, Andersen PM, Prudlo J, Wegner F, Van Damme P, Weishaupt JH, Hermann A.
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Ann Clin Transl Neurol. 2019 Nov 4. doi: 10.1002/acn3.50930. [Epub ahead of print] PubMed PMID: 31682085. Free Full Text

Günther R, Wurster CD, Cordts I, Koch JC, Kamm C, Petzold D, Aust E, Deschauer M, Lingor P, Ludolph AC, Hermann A.
Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy.
Front Neurol. 2019 Nov 1. doi: 0.3389/fneur.2019.01098 Free Fullt Text

Völkner C, Peter F, Liedtke M, Kronbach S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ.
Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A.
Stem Cell Research, 2019 Oct 15, 41. doi: 10.1016/j.scr.2019.101606. Free Full Text

Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J.
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
Int J Mol Sci. 2019 Oct 19;20(20). pii: E5185. doi: 10.3390/ijms20205185. PMID: 31635081 Free Full Text

Suckau O, Gross I, Schrötter S, Yang F, Luo J, Wree A, Chun J, Baska D, Baumgart J, Kano K, Aoki J, Bräuer AU.
LPA(1) , LPA(2) , LPA(4) , and LPA(6) receptor expression during mouse brain development.
Dev Dyn. 2019 May;248(5):375-395. doi: 10.1002/dvdy.23. Epub 2019 Mar 27. PubMed PMID: 30847983. Free Full Text 

Wurster CD, Günther R, Steinacker P, Dreyhaupt J, Wollinsky K, Uzelac Z, Witzel S, Kocak T, Winter B, Koch JC, Lingor P, Petri S, Ludolph AC, Hermann A, Otto M.
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment. Ther Adv Neurol Disord. 2019 May 10;12:1756286419846058. doi: 10.1177/1756286419846058. eCollection 2019. PubMed
PMID: 31205491; PubMed Central PMCID: PMC6535708. Free Full Text

Peikert K, Naumann M, Günther R, Wegner F, Hermann A
Off-Label Treatment of 4 Amyotrophic Lateral Sclerosis Patients With 4-Aminopyridine.
J Clin Pharmacol. 2019 Apr 30. doi: 10.1002/jcph.1437. Free Full Text

Lukas J, Hermann A, Giese AK.
Silent but significant - A synonymous SNV alters prognosis in Pompe disease. EBioMedicine. 2019 May;43:20-21. doi:10.1016/j.ebiom.2019.04.015. PubMed PMID: 30982766; PubMed
Central PMCID: PMC6562060. Free Full Text

Lukas J, Pospech J, Oppermann C, Hund C, Iwanov K, Pantoom S, Petters J, Frech M, Seemann S, Thiel FG, Modenbach JM, Bolsmann R, de Freitas Chama L, Kraatz F, El-Hage F, Gronbach M, Klein A, Müller R, Salloch S, Weiss FU, Simon P, Wagh P, Klemenz A, Krüger E, Mayerle J, Delcea M, Kragl U, Beller M, Rolfs A, Lerch MM, Sendler M.  
Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas.
Advances in Medical Sciences, Epub 2019 Apr 09; doi: 10.1016/j.advms.2019.03.004

Lingor P, Weber M, Camu W, Friede T, Hilgers R, Leha A, Neuwirth C, Günther R, Benatar M, Kuzma-Kozakiewicz M, Bidner H, Blankenstein C, Frontini R, Ludolph AC, Koch JC and the ROCK-ALS Investigators
ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double-Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis.
Front Neurol 2019 Mar 27. doi: 10.3389/fneur.2019.00293 Free Full Text

Dorst J, Chen L, Rosenbohm A,Dreyhaupt J, Hübers A, Schuster J, Weishaupt JH, Kassubek J, Gess B, Meyer T, Weyen U, Hermann A, Winkler J, Grehl T, Hagenacker T, Lingor P, Koch JC, Sperfeld A,
Petri S, Großkreutz J, Metelmann M, Wolf J, Winkler AS, Klopstock T, Boentert M, Johannesen S, Storch A, Schrank B, Zeller D, Liu X, Tang L, Fan DS, Ludolph AC.
Prognostic factors in ALS: a comparison between Germany and China.
Journal of Neurology 2019 Mar 19 doi: 10.1007/s00415-019-09290-4 Free Full Text

Yang F, Guan Y, Feng X, Rolfs A, Schlüter H, Luo J.
Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice.
Mol Brain. 2019 Mar 11;12(1):17. doi: 10.1186/s13041-019-0440-9. Free Full Text

Suckau O, Gross I, Schrötter S, Yang F, Luo J, Wree A, Chun J, Baska D, Baumgart J, Kano K, Aoki J, Bräuer AU.
LPA1 , LPA2 , LPA4 , and LPA6 receptor expression during mouse brain development.
Dev Dyn. 2019 Mar 8. doi: 10.1002/dvdy.23.

Peikert K, Gerber J, Winzer S, Schäfer J, Reichmann H, Hermann A
Palatal Tremor with Progressive Ataxia Secondary to A Dural Arteriovenous Fistula.
Movement Disorders Clinical Practice. 2019 Mar 18. doi: 10.1002/mdc3.12750 Free Full Text

Martinez-Macias MI, Moore D AQ, Green RL, Gomez-Herreros F, Naumann M, Hermann A, Van Damme P, Hafezparast M, Caldecott KW.
FUS (fused in sarcoma) is a component of the cellular response to topoisomerase I–induced DNA breakage and transcriptional stress. Life Science Alliance. 2019 Feb 26. doi: 10.26508/lsa.201800222 Free Full Text

Winter B, Guenther R, Ludolph AC, Hermann A, Otto M, Wurster CD.
Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen.
JNNP 2019 doi: 10.1136/jnnp-2018-320033

Walter MC, Dräger B, Günther R, Hermann A, Hagenacker T, Kleinschnitz C, Löscher W, Meyer T, Schrank B, Schwersenz I, Wurster CD, Ludolph AC, Kirschner J.
Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience.
Nervenarzt. 2019 Jan 7. doi: 10.1007/s00115-018-0653-7


Günther R, Neuwirth C, Koch JC, Lingor P, Braun N, Untucht R, Petzold D, Weber M, Hermann A.
Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy.
Clin Neurophysiol. 2018 Nov 24. pii: S1388-2457(18)31356-7.

Pal A, Glaß H, Naumann M, Kreiter N, Japtok J, Sczech R, Hermann A. High content organelle trafficking enables disease state profiling as powerful tool for disease modelling.Sci Data. 2018 Nov 13;5:180241. doi: 10.1038/sdata.2018.241.

Rabenstein M, Peter F, Rolfs A, Frech MJ.
Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice.
Sci Rep. 2018 Feb 20;8(1):3318. doi: 10.1038/s41598-018-21805-z.

Lenders M, Neußer LP, Rudnicki M, Nordbeck P, Canaan-Kühl S, Nowak A, Cybulla M, Schmitz B, Lukas J, Wanner C, Brand SM, Brand E.
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol. 2018 Dec;29(12):2879-2889. doi: 10.1681/ASN.2018070740. Epub 2018 Nov 1.

Qiao L, Yang E, Luo J, Lin J, Yan X.
Altered myelination in the Niemann-Pick type C1 mutant mouse.
Histol Histopathol. 2018 Dec;33(12):1311-1321. doi: 10.14670/HH-18-017. Epub 2018 Jun 29.

Feng X, Bader BM, Yang F, Segura M, Schultz L, Schröder OH, Rolfs A, Luo J.
Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by micro-electrode array.
Brain Res. 2018 Sep 1;1694:87-93. doi: 10.1016/j.brainres.2018.05.009. Epub 2018 May 16.

Yang F, Feng X, Rolfs A, Luo J.
Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.
J Neurol Sci. 2018 Mar 15;386:56-63. doi: 10.1016/j.jns.2018.01.015. Epub 2018 Jan 12

Yan X, Wang Z, Bishop CA, Weitkunat K, Feng X, Tarbier M, Luo J, Friedländer MR, Burkhardt R, Klaus S, Willnow TE, Poy MN.
Control of hepatic gluconeogenesis by Argonaute2.
Mol Metab. 2018 Oct 9. pii: S2212-8778(18)30794-4. doi: 10.1016/j.molmet.2018.10.003.

Glaß, H; Pal, A; Reinhardt, P; Sterneckert, J; Wegner, F; Storch, A; Hermann, A.
Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.
Mol. Cell. Neurosci., 2018 Aug 3. pii: S1044-7431(18)30132-5. doi: 10.1016/j.mcn.2018.08.002

Kreiter N, Pal A, Lojewski X, Corcia P, Naujock M, Reinhardt P, Sterneckert J, Petri, S, Wegner F, Storch A and Hermann A.
Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation.
Neurobiol Dis. 2018 Apr 6;115:167-181

Günther R, Schrempf W, Hähner A, Hummel T, Wolz M, Storch A, Hermann A.
Impairment in respiratory function contributes to olfactory impairment in Amyotrophic Lateral Sclerosis.
Front Neurol. 2018 Feb 26;9:79.

Naumann M, Pal A, Goswami A, Lojewski X, Japtok J, Vehlow A, Naujock M, Günther R, Jin M, Stanslowski N, Reinhardt P, Sterneckert J, Frickenhaus M, Pan-Montojo F, Storkebaum E, Poser I, Freischmidt A, Weishaupt JH, Holzmann K, Troost D, Ludolph AC, Boeckers TM, Liebau S, Petri S, Cordes N,  Hyman A, Wegner F, Grill S, Weis J, Storch A, Hermann A.
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and aggregation formation.
Nature Communucations (2018), 9:335. DOI: 10.1038/s41467-017-02299-1

Ludolph AC, Schuster J, Dorst J, Dupuis L, Dreyhaupt J, Weishaupt JH, Kassubek J, Weiland U, Petri S, Meyer T, Grosskreutz J, Schrank B, Boentert M, Emmer A, Hermann A, Zeller D, Prudlo J, Winkler AS, Grehl T, Heneka MT, Wollebæk Johannesen S, Göricke B; RAS-ALS Study Group.
Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial.
Lancet Neurol. 2018 Aug;17(8):681-688. doi: 10.1016/S1474-4422(18)30176-5

Andersen PM, Kuzma-Kozakiewicz M, Keller J, Aho-Oezhan HEA, Ciecwierska K, Szejko N, Vázquez C, Böhm S, Badura-Lotter G, Meyer T, Petri S, Linse K, Hermann A, Semb O, Stenberg E, Nackberg S, Dorst J, Uttner I, Häggström AC, Ludolph AC, Lulé D.
Therapeutic decisions in ALS patients: cross-cultural differences and clinical implications.
J Neurol. 2018 Jul;265(7):1600-1606. doi: 10.1007/s00415-018-8861-4.

Marrone L, Poser I, Casci I, Japtok J, Reinhardt P, Janosch A, Andree C, Lee HO, Moebius C, Kroener E, Reinhardt L, Cicardi ME, Hackmann K, Klink B, Poletti A, Alberti S, Bickle M, Hermann A, Pandey U, Hyman AA, Sterneckert JL.
Novel isogenic FUS-eGFP iPSC reporter lines enable quantification of FUS stress granule pathology that is rescued by drugs inducing autophagy.
Stem Cell Reports. 2018 Jan 17. pii: S2213-6711(17)30566-0. doi: 10.1016/j.stemcr.2017.12.018

Linse K*, Aust E*, Joos M, Hermann A.
Communication Matters - Pitfalls and Promise of Hightech Communication Devices in Palliative Care of Severely Physically Disabled Patients With Amyotrophic Lateral Sclerosis.
Front Neurol. 2018 Jul 27;9:603. doi: 10.3389/fneur.2018.00603.*contributed equally

Nötzel M, Rosso G, Möllmert S, Seifert A, Schlüßler R, Kim K, Hermann A*, Guck J*. 
Axonal Transport, Phase-Separated Compartments, and Neuron Mechanics - A New Approach to Investigate Neurodegenerative Diseases.
Front Cell Neurosci. 2018 Oct 9;12:358. doi: 10.3389/fncel.2018.00358. eCollection 2018. *contributed equally

Lang F, Pelzl L, Hauser S, Hermann A, Stournaras C, Schöls L.
To die or not to die SGK1-sensitive ORAI/STIM in cell survival.
Cell Calcium. 2018 May 3;74:29-34. doi: 10.1016/j.ceca.2018.05.001

Bräuer S, Zimyanin V, Hermann A.
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis.
J Neural Transm (Vienna). 2018 Feb 8. doi: 10.1007/s00702-018-1851-y.

Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Hum Mol Genet. 2018 Jan 5. doi: 10.1093/hmg/ddx436.

Peikert K, Hermann A, editors.
Proceedings of the ninth international meeting on neuroacanthocyosis syndromes; 2018 March 23–25; Dresden, Germany.
Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8ZC9KCW

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry. 2018 Apr 12. pii: jnnp-2017-317611. doi: 10.1136/jnnp-2017-317611
Collaborators: Weyen U, Hermann A, Regensburger M, Winkler J, Linker R, Winner B, Hagenacker T, Koch JC, Lingor P, Göricke B, Zierz S, Jordan B, Baum P, Wolf J, Winkler A, Young P, Bogdahn U, Prudlo J, Kassubek J, Danzer K.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D; German ALS network MND-NET , Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH.
Hot-spot KIF5A mutations cause familial ALS.
BRAIN 2018 Jan 12. doi: 10.1093/brain/awx370
Collaborators: Weyen U, Hermann A, Hagenacker T, Koch JC, Lingor P, Göricke B, Zierz S, Baum P, Wolf J, Winkler A, Young P, Bogdahn U, Prudlo J, Kassubek J.


Lukas J, Knospe AM, Seemann S, Citro V, Cubellis MV, Rolfs A.
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.
J Vis Exp. 2017 Dec 20;(130). doi: 10.3791/56550. PMID: 29286471 Watch Video Here

Lukas J, Cozma C, Yang F, Kramp G, Meyer A, Neßlauer AM, Eichler S, Böttcher T, Witt M, Bräuer AU, Kropp P, Rolfs A.
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.
Int J Mol Sci. 2017 Oct 20;18(10). pii: E2192. doi: 10.3390/ijms18102192. PMID: 29053611 Free Full Text Here

Narendra Talabattula VA, Morgan P, Frech MJ, Uhrmacher AM, Herchenröder O, Pützer BM, Rolfs A, Luo J.
Non-canonical pathway induced by Wnt3a regulates β-catenin via Pyk2 in differentiating human neural progenitor cells.
Biochem Biophys Res Commun. 2017 Sep 9;491(1):40-46. doi: 10.1016/j.bbrc.2017.07.030. Epub 2017 Jul 8. PMID: 28694190

Rabenstein M, Peter F, Joost S, Trilck M, Rolfs A, Frech MJ.
Decreased calcium flux in Niemann-Pick type C1 patient-specific iPSC-derived neurons due to higher amount of calcium-impermeable AMPA receptors.
Mol Cell Neurosci. 2017 Sep;83:27-36. doi: 10.1016/j.mcn.2017.06.007. Epub 2017 Jun 27. PMID: 28666962

Peter F, Rost S, Rolfs A, Frech MJ.
Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.
Orphanet J Rare Dis. 2017 Aug 25;12(1):145. doi: 10.1186/s13023-017-0697-y. PMID: 28841900 Free Full Text Here

Markus-Koch A, Schmitt O, Seemann S, Lukas J, Koczan D, Ernst M, Fuellen G, Wree A, Rolfs A, Luo J.
ADAM23 promotes neuronal differentiation of human neural progenitor cells.
Cell Mol Biol Lett. 2017 Aug 18;22:16. doi: 10.1186/s11658-017-0045-1. eCollection 2017. PMID: 28828010 Free Full Text Here

Bohl C, Pomorski A, Seemann S, Knospe AM, Zheng C, Krężel A, Rolfs A, Lukas J.
Fluorescent probes for selective protein labeling in lysosomes: a case of α-galactosidase A.
FASEB J. 2017 Dec;31(12):5258-5267. doi: 10.1096/fj.201700058RRRR. Epub 2017 Aug 15. PMID: 28821638

Cozma C, Iurașcu MI, Eichler S, Hovakimyan M, Brandau O, Zielke S, Böttcher T, Giese AK, Lukas J, Rolfs A.
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Sci Rep. 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2. PMID: 28733637 Free Full Text Here

Peter F, Trilck M, Rabenstein M, Rolfs A, Frech MJ.
Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation.
Data Brief. 2017 Apr 2;12:123-131. doi: 10.1016/j.dib.2017.03.042. eCollection 2017 Jun. PMID: 28413817 Free Full Text Here

Trilck M, Peter F, Zheng C, Frank M, Dobrenis K, Mascher H, Rolfs A, Frech MJ.
Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons.
Brain Res. 2017 Feb 15;1657:52-61. doi: 10.1016/j.brainres.2016.11.031. Epub 2016 Dec 5. PMID: 27923633

Huber R, Grittner U, Weidemann F, Thijs V, Tanislav C, Enzinger C, Fazekas F, Wolf M, Hennerici MG, McCabe DJ, Putaala J, Tatlisumak T, Kessler C, von Sarnowski B, Martus P, Kolodny E, Norrving B, Rolfs A;
Stroke in Young Fabry Patients (SIFAP) Investigators. Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study.
Stroke. 2017 Jan;48(1):30-35. doi: 10.1161/STROKEAHA.116.013620.

Peters S, Zitzelsperger E, Küspert S, Klatt S, Heydn R, Johannesen S, Petri S, Aigner L, Thal D, Hermann A, Weishaupt J, Bruun TH, Bogdahn U.
The TGF-β system as a potential pathogenic player in disease modulation of Amyotrophic Lateral Sclerosis.
Front Neurol. 2017 Dec 15;8:669. doi: 10.3389/fneur.2017.00669.

Funke A, Spittel S, Grehl T, Grosskreutz J, Kettemann D, Petri S, Weyen U, Weydt P, Dorst J, Ludolph AC, Baum P, Oberstadt M, Jordan B, Hermann A, Wolf J, Boentert M, Walter B, Gajewski N, Maier A, Münch C, Meyer T.
Assistive technology devices in Amyotrophic Lateral Sclerosis – analysis of 4 years of platform-based case management.
Amyotroph Lateral Scler Frontotemporal Degener. 2018

Loewenbrück KF, Dittrich M, Böhm J, Klingelhöfer J, Baum P, Schäfer J, Reichmann H, Hermann A, Storch A.
Practically applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies (HMSN).
J Neurol. 2018 Jan;265(1):165-177.

Linse K, Rüger W, Joos M, Schmitz-Peiffer H, Storch A, Hermann A.
Usability of eyetracking computer systems and impact on psychological wellbeing in patients with advanced amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov 1:1-8. doi: 10.1080/21678421.2017.1392576.

Aust E, Linse K, Rüger W, Joos M, Schmitz-Peiffer H, Storch A, Hermann A.
Reply to Letter to the Editor: "Converse well-being of locked in patients and caregivers" by S. Renault and A. Dhand.
Ann Neurol. 2017 Sep;82(3):491-493. doi: 10.1002/ana.25025

Linse K, Rüger W, Joos M, Schmitz-Peiffer H, Storch A, Hermann A.
Eyetracking-based assessment suggests preserved wellbeing in locked-in patients.
Ann Neurol. 2017 Feb;81(2):310-315

Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, et al.
A case of beta-propeller protein-associated neurodegeneration due to a heterozygous deletion of WDR45.
Tremor Other Hyperkinet Mov. 2017; 7. doi: 10.7916/D8251WB0

Brandt MD, Krüger-Gerlach D, Hermann A, Meyer AK, Kim KS, Storch A.
Early Postnatal but Not Late Adult Neurogenesis Is Impaired in the Pitx3-Mutant Animal Model of Parkinson's Disease.
Front Neurosci. 2017 Aug 24;11:471. doi: 10.3389/fnins.2017.00471. eCollection 2017.

Pelzl L, Elsir B, Sahu I, Bissinger R, Singh Y, Sukkar B, Honisch S, Schoels L, Jemaà M, Lang E, Storch A, Hermann A, Stournaras C, Lang F.
Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients.
Cell Physiol Biochem. 2017 Aug 11;42(5):2066-2077.

Al-Obeidi E., Al-Tahan S., Surampalli A., Goyal N., Wang A., Hermann A., Omizo M, Smith C., Mozaffar T., Kimonis V.
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.
Clin Genet. 2017;0:1–7. https://

Zhou Q, Lehmer C, Michaelsen M, Mori K, Alterauge D, Baumjohann D, Schludi MH, Greiling J, Farny D, Flatley A, Feederle R, May S, Schreiber F, Arzberger T, Kuhm C, Klopstock T, Hermann A, Haass C, Edbauer D.
Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins.
EMBO Mol Med. 2017 Mar 28. doi: 10.15252/emmm.201607054.

Oberwagner W, Sauer T, Hermann A, Prohaska R, Müllner E, Salzer U.
Drug-induced endovesiculation of erythrocytes is modulated by the dynamics in the cytoskeleton/membrane interaction.
Blood Cells, Molecules and Diseases 2017,May;64:15-22

Peikert K, Danek A, Hermann A.
Current state of knowledge in Chorea-Acanthocytosis as core entity of Neuroacanthocytosis syndromes.
Eur J Med Genet. 2017 Dec 15. pii: S1769-7212(17)30591-8.

Lang F, Pelzl L, Schöls L, Hermann A, Föller M, Schäffer T, Stournaras C.
Neurons, erythrocytes and beyond –The diverse functions of chorein.
Neurosignals. 2017 Nov 28;25(1):117-126

Hermann, A., 2017.
Neuroacanthocytosis syndromes,
in: C., F.-P., J., F., P., M.-M., K, C. (Eds.), Movement Disorders Curricula. Springer, Vienna.

Pappas SS, Bonifacino J, Danek A, Dauer WT, De M, De Franceschi L, DiPaolo G, Fuller R, Haucke V, Hermann A, Kornmann B, Landwehrmeyer B, Levin J, Neiman AM, Rudnicki DD, Sibon O, Velayos-Baeza A, Vonk JJ, Walker RH, Weisman LS, Albin RL.
Eighth International Chorea–Acanthocytosis Symposium: summary of workshop discussion and action points.
Tremor Other Hyperkinet Mov. 2017; 15;7:428. doi: 10.7916/D8XD127W


Trilck M, Peter F, Zheng C, Frank M, Dobrenis K, Mascher H, Rolfs A, Frech MJ.
Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons.
Brain Res. 2016 Dec 3. pii: S0006-8993(16)30806-X. doi: 10.1016/j.brainres.2016.11.031.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Int J Mol Sci. 2016 Dec 1;17(12). pii: E2010.

Citro V, Peña-García J, den-Haan H, Pérez-Sánchez H, Del Prete R, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
PLoS One. 2016 Oct 27;11(10):e0165463. doi: 10.1371/journal.pone.0165463.

Stanslowsky N*, Reinhardt P*, Glass H, Kalmbach N, Naujock M, Lübben V, Hensel N, Pal A, Venneri A, De Franceschi L, Claus P, Sterneckert J, Storch A, Hermann A*, Wegner F*.
Neuronal dysfunction in iPSC-derived medium spiny neurons from Chorea-Acanthocytosis patients is reversed by Src kinase inhibition and F-actin stabilization,
J Neurosci, 2016 Nov 23;36(47):12027-12043., *Contributed equally

Günther R, Richter N, Sauerbier A, Chaudhuri KR, Martinez-Martin P, Storch A, Hermann A.
Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases.
Front Neurol. 2016 Jul 25;7:117.

Hermann A, Kim JB, Srimasorn S, Zaehres H, Reinhardt P, Schöler HR, Storch A.
Factor-Reduced Human Induced Pluripotent Stem Cells Efficiently Differentiate into Neurons Independent of the Number of Reprogramming Factors.
Stem Cells Int. 2016; 2016:4736159.

Higelin J, Demestre M, Putz S, Delling JP, Jacob C, Lutz AK, Bausinger J, Huber AK, Klingenstein M, Barbi G, Speit G, Huebers A, Weishaupt JH, Hermann A, Liebau S, Ludolph AC, Boeckers TM.
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.
Front Cell Neurosci. 2016 Dec 26;10:290

Wais V, Rosenbohm A, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Nagel G, Kassubek J, Weydt P, Brettschneider J, Weishaupt JH, Ludolph AC, Dorst J.
The concept and diagnostic criteria of primary lateral sclerosis.
Acta Neurol Scand. 2016 Nov 15. doi: 10.1111/ane.12713

Sivadasan R, Hornburg D, Drepper C, Frank N, Jablonka S, Hansel AA, Hermann A, Lojewski X; Sterneckert J, Shaw P, Ince P, Mann M, Meissner F, Sendtner M.
C9ORF72 interaction with cofilin modulates actin dynamics in motoneurons.
Nat. Neurosci, 2016; Dec;19(12):1610-1618

Lupo F, Tibaldi E, Matte A, Sharma AK, Brunati AM, Alper SL, Zancanaro C, Benati D, Siciliano A, Bertoldi M, Zonti F, Storch A, Walker RH, Danek A, Bader B, Hermann A, De Franceschi L.
Impaired autophagy is involved in abnormalities of erythroid cells from patients with chorea-acanthocytosis.
Blood, 2016 Dec 22;128(25):2976-2987.

Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C.
Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition.
EMBO Rep. 2016 Jul 26. pii: e201541724.

Schrempf W, Katona I, Dogan I, Felbert VV, Wienecke M, Heller J, Maier A, Hermann A, Linse K, Brandt MD, Reichmann H, Schulz JB, Schiefer J, Oertel WH, Storch A, Weis J, Reetz K.
Reduced intraepidermal nerve fiber density in patients with REM sleep behavior disorder.
Parkinsonism Relat Disord. 2016 Jun 6. pii: S1353-8020(16)30199-7.

Vercruysse P, Sinniger J, El Oussini H, Scekic-Zahirovic J, Dieterlé S, Dengler R, Meyer T, Zierz S, Kassubek J, Fischer W, Dreyhaupt J, Grehl T, Hermann A, Grosskreutz J, Witting A, Van Den Bosch L, Spreux-Varoquaux O; GERP ALS Study Group, Ludolph AC, Dupuis L.
Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.
Brain. 2016 Apr;139(Pt 4):1106-22.

Naujock M, Stanslowsky N, Bufler S, Naumann M, Reinhardt P, Sterneckert J, Kefalakes E, Kassebaum C, Bursch F, Lojewski X, Storch A, Frickenhaus M, Boeckers TM, Putz S, Demstre M, Liebau S, Klingenstein M, Ludolph AC, Dengler R, Kim KS, Hermann A, Wegner F*, Petri S*.
4-Aminopyridine Induced Activity Rescues Hypoexcitable Motor Neurons from ALS Patient-Derived Induced Pluripotent Stem Cells.
Stem Cells. 2016 Jun;34(6):1563-75 *Contributed equally

Hübers A, Hildebrandt V, Petri S, Kollewe K, Hermann A, Storch A, Hanisch F, Zierz S, Rosenbohm A, Ludolph AC, Dorst J.
Clinical features and differential diagnosis of flail arm syndrome.
J Neurol. 2016 Feb;263(2):390-5

Loewenbrück KF, Liesenberg J, Dittrich M, Schäfer J, Patzner B, Trausch B, Machetanz J, Hermann A, Storch A.
Nerve ultrasound in the differentiation of multifocal motor neuropathy (MMN) and amyotrophic lateral sclerosis with predominant lower motor neuron disease (ALS/LMND).
J Neurol. 2016 Jan;263(1):35-44.

Mückschel M, Smitka M, Hermann A, von der Hagen M, Beste C.
Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration.
Brain Struct Funct. 2016 May, 221(4):2251-7

Haussmann R, Wysocki M, Brandt MD, Hermann A, Donix M.
MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).
Int Psychogeriatr. 2016 Dec 1:1-3

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet.
2016 Nov 16. doi: 10.1038/ejhg.2016.146.

Schlegel V, Thieme M, Holzmann C, Witt M, Grittner U, Rolfs A, Wree A.
Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice.
Int J Mol Sci. 2016 Nov 9;17(11). pii: E1866.

Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A.
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Neurol Genet. 2016 Sep 13;2(5):e106. doi: 10.1212/NXG.0000000000000106.

Jerie M, Vojtech Z, Malikova H, Prochazkova S, Vackova Z, Rolfs A.
Allgrove syndrome with prominent neurological symptoms. Case Report.
Neuro Endocrinol Lett. 2016 Jul;37(3):184-188.

Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese AK, Duning T, Stypmann J, Krämer J, Weidemann F, Brand SM, Wanner C, Brand E.
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Orphanet J Rare Dis. 2016 Jun 29;11(1):88. doi: 10.1186/s13023-016-0473-4.

Tanislav C, Guenduez D, Liebetrau C, Giese AK, Eichler S, Sieweke N, Speth M, Bauer T, Hamm C, Rolfs A.
Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.
PLoS One. 2016 Jun 20;11(6):e0157640. doi: 10.1371/journal.pone.0157640.

Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM.
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794.

Hekim N, Batyraliev T, Trujillano D, Wang W, Dandara C, Karben Z, Saygılı Eİ, Çetin Z, Mıhcıoğlu D, Türkmen S, İkidağ MA, Cüce MA, Rolfs A.
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
OMICS. 2016 May;20(5):325-7. doi: 10.1089/omi.2016.0046.

Liu W, Beck J, Schmidt LC, Roolf C, Pews-Davtyan A, Rütgen BC, Hammer S, Willenbrock S, Sekora A, Rolfs A, Beller M, Brenig B, Nolte I, Junghanss C, Schütz E, Murua Escobar H.
Characterization of the novel indolylmaleimides' PDA-66 and PDA-377 effect on canine lymphoma cells.
Oncotarget. 2016 Jun 7;7(23):35379-89. doi: 10.18632/oncotarget.9297.

Arcot Sadagopan K, Kathirvel R, Keep RB, Sundaresan P, Huang H, Rolfs A, Parthiban K, Vijayalakshmi P.
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.
Ophthalmic Genet. 2016 May 13:1-3.

Tanislav C, Grittner U, Fazekas F, Thijs V, Tatlisumak T, Huber R, von Sarnowski B, Putaala J, Schmidt R, Kropp P, Norrving B, Martus P, Gramsch C, Giese AK, Rolfs A, Enzinger C.
Frequency and predictors of acute ischaemic lesions on brain magnetic resonance imaging in young patients with a clinical diagnosis of transient ischaemic attack.
Eur J Neurol. 2016 Jul;23(7):1174-82. doi: 10.1111/ene.13012.

Becker J, Rolfs A, Karabul N, Berlit P, Kraemer M.
D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic.
Mult Scler. 2016 Oct;22(11):1502-1505.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A.
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762.

Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A.
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
Cell Mol Life Sci. 2016 Aug;73(16):3205-15. doi: 10.1007/s00018-016-2159-4.

Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, Holliday EG, Malik R, Xu H, Kittner SJ, Cole JW, O'Connell JR, Danesh J, Rasheed A, Zhao W, Engelter S, Grond-Ginsbach C, Kamatani Y, Lathrop M, Leys D, Thijs V, Metso TM, Tatlisumak T, Pezzini A, Parati EA, Norrving B, Bevan S, Rothwell PM, Sudlow C, Slowik A, Lindgren A, Walters MR; WTCCC-2 Consortium., Jannes J, Shen J, Crosslin D, Doheny K, Laurie CC, Kanse SM, Bis JC, Fornage M, Mosley TH, Hopewell JC, Strauch K, Müller-Nurasyid M, Gieger C, Waldenberger M, Peters A, Meisinger C, Ikram MA, Longstreth WT Jr, Meschia JF, Seshadri S, Sharma P, Worrall B, Jern C, Levi C, Dichgans M, Boncoraglio GB, Markus HS, Debette S, Rolfs A, Saleheen D, Mitchell BD.
Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.
Stroke. 2016 Feb;47(2):307-16. doi: 10.1161/STROKEAHA.115.011328.

Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134.

Ramirez-Botero AF, Eichler S, Rolfs A, Pachajoa H.
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.
Congenit Anom (Kyoto). 2016 May;56(3):138-140. doi: 10.1111/cga.12146.

Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S, von Sarnowski B, Amaral-Silva A, Jungehulsing GJ, Tanislav C, Thijs V, Rolfs A, Norrving B, Fazekas F, Suomalainen A, Kolodny EH.
Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
J Neurol. 2016 Feb;263(2):257-62. doi: 10.1007/s00415-015-7969-z.

Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Gene. 2016 Jan 15;576(1 Pt 2):208-13. doi: 10.1016/j.gene.2015.10.002.


Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C (2015)
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Eur J Paediatr Neurol 19: 78-86.

Debette S, Kamatani Y, Metso TM, Kloss M, Chauhan G, Engelter ST, Pezzini A, Thijs V, Markus HS, Dichgans M, Wolf C, Dittrich R, Touze E, Southerland AM, Samson Y, Abboud S, Bejot Y, Caso V, Bersano A, Gschwendtner A, Sessa M, Cole J, Lamy C, Medeiros E, Beretta S, Bonati LH, Grau AJ, Michel P, Majersik JJ, Sharma P, Kalashnikova L, Nazarova M, Dobrynina L, Bartels E, Guillon B, van den Herik EG, Fernandez-Cadenas I, Jood K, Nalls MA, De Leeuw FE, Jern C, Cheng YC, Werner I, Metso AJ, Lichy C, Lyrer PA, Brandt T, Boncoraglio GB, Wichmann HE, Gieger C, Johnson AD, Bottcher T, Castellano M, Arveiler D, Ikram MA, Breteler MM, Padovani A, Meschia JF, Kuhlenbaumer G, Rolfs A, Worrall BB, Ringelstein EB, Zelenika D, Tatlisumak T, Lathrop M, Leys D, Amouyel P, Dallongeville J (2015)
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Nat Genet 47: 78-83.

Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, Zheng C, Glaser A, Beller M, Rolfs A, Giese AK (2015)
Enzyme enhancers for the treatment of fabry and pompe disease.
Mol Ther 23: 456-464.

Maass F, Petersen J, Hovakimyan M, Schmitt O, Witt M, Hawlitschka A, Lukas J, Rolfs A, Wree A (2015)
Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease.
J Neurosci Res 93: 433-442.

Trujillano D, Weiss ME, Schneider J, Koster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A (2015)
Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer.
J Mol Diagn 17: 162-170.


Feustel A, Hahn A, Schneider C, Sieweke N, Franzen W, Gunduz D, Rolfs A, Tanislav C (2014)
Continuous cardiac troponin I release in Fabry disease.
PLoS One 9: e91757.

Kaps M, Grittner U, Jungehulsing G, Tatlisumak T, Kessler C, Schmidt R, Jukka P, Norrving B, Rolfs A, Tanislav C (2014)
Clinical signs in young patients with stroke related to FAST: results of the sifap1 study.
BMJ Open 4: e005276.

Kretzschmar C, Roolf C, Langhammer TS, Sekora A, Pews-Davtyan A, Beller M, Frech MJ, Eisenloffel C, Rolfs A, Junghanss C (2014)
The novel arylindolylmaleimide PDA-66 displays pronounced antiproliferative effects in acute lymphoblastic leukemia cells.
BMC Cancer 14: 71.

Muller B, Baum A, Holzhausen M, Grittner U, Hilgendorf I, Martus P, Altiner A, Evers S, Rolfs A, Zettl UK, Kropp P (2014)
[The Rostock Headache Questionnaire ("Rokoko")--validation of a tool to screen and to qualify primary headaches].
Fortschr Neurol Psychiatr 82: 145-148.

Mussmann C, Hubner R, Trilck M, Rolfs A, Frech MJ (2014)
HES5 is a key mediator of Wnt-3a-induced neuronal differentiation.
Stem Cells Dev 23: 1328-1339.

Samuelsson K, Kostulas K, Vrethem M, Rolfs A, Press R (2014)
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.
J Clin Neurol 10: 108-118.

Yan X, Lukas J, Lin J, Ernst M, Koczan D, Witt M, Fuellen G, Wree A, Rolfs A, Luo J (2014)
Aberrant expressions of delta-protocadherins in the brain of Npc1 mutant mice.
Histol Histopathol 29: 1185-1199.

Yan X, Lin J, Talabattula VA, Mussmann C, Yang F, Wree A, Rolfs A, Luo J (2014)
ADAM10 negatively regulates neuronal differentiation during spinal cord development.
PLoS One 9: e84617.

Yan X, Yang F, Lukas J, Witt M, Wree A, Rolfs A, Luo J (2014)
Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice.
Glia 62: 1024-1040.

Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, Zheng C, Gläser A, Beller M, Rolfs A, Giese AK (2014)
Enzyme Enhancers for the Treatment of Fabry and Pompe Disease
Mol Ther doi: 10.1038/mt.2014.224 [Epub ahead of print]

Sharif M, Pews-Davtyan A, Lukas J, Pohlers S, Rolfs A, Langer P, Beller M (2014)
"Palladium-catalysed Suzuki–Miyaura coupling reactions of Bromhexine and Ambroxol"
Tetrahedron 70(34):5128-35.

Sharif M, Pews-Davtyan A, Lukas J, Schranck J, Langer P, Rolfs A, Beller M (2014)
"Palladium-Catalyzed Carbonylative Transformations of Bromhexine into Bioactive Compounds as Glucocerebrosidase Inhibitors"
Eur J Org Chem 1:222–230

Yan X, Ma L, Hovakimyan M, Lukas J, Wree A, Frank M, Guthoff R, Rolfs A, Witt M, Luo J.
Defects in the retina of Niemann-pick type C 1 mutant mice.
BMC Neuroscience. 2014. 15(1): 126.


Bottcher T, Rolfs A, Tanislav C, Bitsch A, Kohler W, Gaedeke J, Giese AK, Kolodny EH, Duning T (2013)
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
PLoS One 8: e71894.

Bottcher T, Rolfs A, Meyer B, Grossmann A, Berg D, Kropp P, Benecke R, Walter U (2013)
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
J Neurol 260: 2523-2531.

Eisenloffel C, Schmole AC, Pews-Davtyan A, Brennfuhrer A, Kuznetsov SA, Hubner R, Frech S, Schult C, Junghanss C, Beller M, Rolfs A, Frech MJ (2013)
Interference of a novel indolylmaleimide with microtubules induces mitotic arrest and apoptosis in human progenitor and cancer cells.
Biochem Pharmacol 85: 763-771.

Fazekas F, Enzinger C, Schmidt R, Dichgans M, Gaertner B, Jungehulsing GJ, Hennerici MG, Heuschmann P, Holzhausen M, Kaps M, Kessler C, Martus P, Putaala J, Ropele S, Tanislav C, Tatlisumak T, Norrving B, Rolfs A (2013)
MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) Study.
Neurology 81: 1914-1921.

Hovakimyan M, Meyer A, Lukas J, Luo J, Gudziol V, Hummel T, Rolfs A, Wree A, Witt M (2013)
Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.
PLoS One 8: e82216.

Hovakimyan M, Maass F, Petersen J, Holzmann C, Witt M, Lukas J, Frech MJ, Hubner R, Rolfs A, Wree A (2013)
Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice.
Neuroscience 252: 201-211.

Kropp P, Holzhausen M, Kolodny E, Becker U, Dichgans M, Diez-Tejedor E, Enzinger C, Fazekas F, Fuentes B, Karpinska A, Meyer W, Tanislav C, Bottcher T, Rolfs A (2013)
Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study".
J Neural Transm 120: 1433-1440.

Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A (2013)
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
PLoS Genet 9: e1003632.

Morgan PJ, Hubner R, Rolfs A, Frech MJ (2013)
Spontaneous calcium transients in human neural progenitor cells mediated by transient receptor potential channels.
Stem Cells Dev 22: 2477-2486.

Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Bottcher T, Lukas J, Hubner R, Golnitz U, Rohle A, Dudesek A, Meyer W, Wittstock M, Mascher H (2013)
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
PLoS One 8: e79732.

Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Bottcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B (2013)
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Stroke 44: 340-349.

Schmole AC, Hubner R, Beller M, Rolfs A, Frech MJ (2013)
Small molecules in stem cell research.
Curr Pharm Biotechnol 14: 36-45.

Trilck M, Hubner R, Seibler P, Klein C, Rolfs A, Frech MJ (2013)
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
Orphanet J Rare Dis 8: 144.

Lin J, Yan X, Wang C, Talabattula VA, Guo Z, Rolfs A, Luo J.
Expression patterns of the ADAMs in early developing chicken cochlea.
Dev Growth Differ. 2013. 55: 368-76.


Avchalumov Y, Kirschstein T, Lukas J, Luo J, Wree A, Rolfs A, Kohling R (2012)
Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice.
Brain Res 1444: 20-26.

Hovakimyan M, Muller J, Wree A, Ortinau S, Rolfs A, Schmitt O (2012)
Survival of transplanted human neural stem cell line (ReNcell VM) into the rat brain with and without immunosuppression.
Ann Anat 194: 429-435.

Liedmann A, Rolfs A, Frech MJ (2012)
Cultivation of human neural progenitor cells in a 3-dimensional self-assembling peptide hydrogel.
J Vis Exp e3830.

Liedmann A, Frech S, Morgan PJ, Rolfs A, Frech MJ (2012)
Differentiation of human neural progenitor cells in functionalized hydrogel matrices.
Biores Open Access 1: 16-24.

Luo J, Yan X, Lin J, Rolfs A (2012)
Gene transfer into older chicken embryos by ex ovo electroporation.
J Vis Exp.

Mazemondet O, John M, Leye S, Rolfs A, Uhrmacher AM (2012)
Elucidating the sources of beta-catenin dynamics in human neural progenitor cells.
PLoS One 7: e42792.

Morgan PJ, Liedmann A, Hubner R, Hovakimyan M, Rolfs A, Frech MJ (2012)
Human neural progenitor cells show functional neuronal differentiation and regional preference after engraftment onto hippocampal slice cultures.
Stem Cells Dev 21: 1501-1512.

Schmitt O, Usunoff KG, Lazarov NE, Itzev DE, Eipert P, Rolfs A, Wree A (2012)
Orexinergic innervation of the extended amygdala and basal ganglia in the rat.
Brain Struct Funct 217: 233-256.

Yan X, Lin J, Rolfs A, Luo J (2012)
Expression patterns of ADAMs in the developing chicken lens.
J Mol Histol 43: 121-135.

Liedmann A., Rolfs, A., Frech, M.J. (2012)
Cultivation of human neural progenitor cells in a 3-dimensional self-assembling peptide hydro gel.
Journal of Visualized Experiments, doi: 10.3791/3830.

Liedmann A., Frech S., Morgan P.J., Rolfs, A., Frech, M.J. (2012)
Differentiation of Human Neural Progenitor Cells in Functionalised Hydrogel Matrices.
BioResearch Open Access, 1(1), 16-24.

Lukas J, Torras J, Navarro I, Giese A-K, Boettcher T, Mascher H, Lackner KJ, Fauler G, Paschke E, Cruzado JM, Dudesek A, Wittstock M, Meyer W, Rolfs A (2012)
“Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene”,
Clin Kidney J 5(5):395-400

Lin J, Yan X, Wang C, Guo Z, Rolfs A, Luo J.
Anatomical expression patterns of delta-protocadherins in developing chicken cochlea.
J Anat. 2012. 221: 598-608.


Hovakimyan M, Stachs O, Reichard M, Mascher H, Lukas J, Frech MJ, Guthoff R, Witt M, Rolfs A, Wree A (2011)
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1.
Cornea 30: 796-803.

Hovakimyan M, Petersen J, Maass F, Reichard M, Witt M, Lukas J, Stachs O, Guthoff R, Rolfs A, Wree A (2011)
Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.
PLoS One 6: e28418.

Lange C, Mix E, Frahm J, Glass A, Muller J, Schmitt O, Schmole AC, Klemm K, Ortinau S, Hubner R, Frech MJ, Wree A, Rolfs A (2011)
Small molecule GSK-3 inhibitors increase neurogenesis of human neural progenitor cells.
Neurosci Lett 488: 36-40.

Markus A, Yan X, Rolfs A, Luo J (2011)
Quantitative and dynamic expression profile of premature and active forms of the regional ADAM proteins during chicken brain development.
Cell Mol Biol Lett 16: 431-451.

Mazemondet O, Hubner R, Frahm J, Koczan D, Bader BM, Weiss DG, Uhrmacher AM, Frech MJ, Rolfs A, Luo J (2011)
Quantitative and kinetic profile of Wnt/beta-catenin signaling components during human neural progenitor cell differentiation.
Cell Mol Biol Lett 16: 515-538.

Rolfs A, Martus P, Heuschmann PU, Grittner U, Holzhausen M, Tatlisumak T, Bottcher T, Fazekas F, Enzinger C, Ropele S, Schmidt R, Riess O, Norrving B (2011)
Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years.
Cerebrovasc Dis 31: 253-262.

Yan X, Lukas J, Witt M, Wree A, Hubner R, Frech M, Kohling R, Rolfs A, Luo J (2011)
Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse.
Metab Brain Dis 26: 299-306.

Yan X, Lin J, Rolfs A, Luo J (2011)
Differential expression of the ADAMs in developing chicken retina.
Dev Growth Differ 53: 726-739.

Yan X, Lin J, Markus A, Rolfs A, Luo J (2011)
Regional expression of ADAM19 during chicken embryonic development.
Dev Growth Differ 53: 333-346.

Lin J, Lemke C, Redies C, Yan X, Mix E, Rolfs A, Luo J.
ADAM17 overexpression promotes angiogenesis by increasing blood vessel sprouting and pericyte number during brain microvessel.
Int. J. Dev. Biol. 2011. 55: 961-968.

Lin J, Luo J, Redies C.
Differential regional expression of multiple ADAMs during feather bud formation.
Dev Dyn. 2011. 240: 2142-2152.

bis 2011

Rolfs A, Beige J, Finckh U, Kohler B, Schaberg T, Lokies J, Lode H (1995)
Amplification of Mycobacterium tuberculosis from peripheral blood.
J Clin Microbiol 33: 3312-3314.

Unverferth K, Engel J, Hofgen N, Rostock A, Gunther R, Lankau HJ, Menzer M, Rolfs A, Liebscher J, Muller B, Hofmann HJ (1998)
Synthesis, anticonvulsant activity, and structure-activity relationships of sodium channel blocking 3-aminopyrroles.
J Med Chem 41: 63-73.

Gabriel S, Grossmann A, Hoppner J, Benecke R, Rolfs A (1999)
[Marchiafava-Bignami syndrome. Extrapontine myelinolysis in chronic alcoholism].
Nervenarzt 70: 349-356.

Muller P, Jesnowski R, Liebe S, Rolfs A, Lohr M (1999)
Simple method for DNA extraction from pancreatic juice for PCR amplification assays.
Int J Pancreatol 25: 39-43.

Raab N, Heller T, Kroger J, Freund M, Nizze H, Rolfs A, Liebe S, Lohr M (1999)
[Intestinal lymphoma. A long diagnostic path].
Med Klin (Munich) 94: 345-352.

Haas SJ, Bauer P, Rolfs A, Wree A (2000)
Immunocytochemical characterization of in vitro PKH26-labelled and intracerebrally transplanted neonatal cells.
Acta Histochem 102: 273-280.

Strauss U, Wissel K, Jung S, Wulff H, Hansel W, Zhu J, Rolfs A, Mix E (2000)
K(+) channel-blocking alkoxypsoralens inhibit the immune response of encephalitogenic T line cells and lymphocytes from Lewis rats challenged for experimental autoimmune encephalomyelitis.
Immunopharmacology 48: 51-63.

Ibrahim SM, Mix E, Bottcher T, Koczan D, Gold R, Rolfs A, Thiesen HJ (2001)
Gene expression profiling of the nervous system in murine experimental autoimmune encephalomyelitis.
Brain 124: 1927-1938.

Strauss U, Herbrik M, Mix E, Schubert R, Rolfs A (2001)
Whole-cell patch-clamp: true perforated or spontaneous conventional recordings?
Pflugers Arch 442: 634-638.

Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A (2002)
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
Hum Mutat 19: 30-38.

Bottcher T, Mix E, Koczan D, Bauer P, Pahnke J, Peters S, Weinelt S, Knoblich R, Strauss U, Cattaneo E, Thiesen HJ, Rolfs A (2003)
Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation.
J Neurosci Res 73: 42-53.

Mix E, Stefan K, Hoppner J, Klauer T, Zettl UK, Strauss U, Meyer-Rienecker HJ, Rolfs A (2003)
Lymphocyte subpopulations, oxidative burst and apoptosis in peripheral blood cells of patients with multiple sclerosis-effect of interferon-beta.
Autoimmunity 36: 291-305.

Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L, Riess O (2003)
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
Ann Neurol 54: 367-375.

Weinelt S, Peters S, Bauer P, Mix E, Haas SJ, Dittmann A, Petrov S, Wree A, Cattaneo E, Knoblich R, Strauss U, Rolfs A (2003)
Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation.
J Neurosci Res 71: 228-236.

Mix E, Ibrahim S, Pahnke J, Koczan D, Sina C, Bottcher T, Thiesen HJ, Rolfs A (2004)
Gene-expression profiling of the early stages of MOG-induced EAE proves EAE-resistance as an active process.
J Neuroimmunol 151: 158-170.

Peters S, Mix E, Bauer P, Weinelt S, Schubert B, Knoblich R, Bottcher T, Strauss U, Pahnke J, Cattaneo E, Wree A, Rolfs A (2004)
Wnt-5a expression in the rat neuronal progenitor cell line ST14A.
Exp Brain Res 158: 189-195.

Strauss U, Kole MH, Brauer AU, Pahnke J, Bajorat R, Rolfs A, Nitsch R, Deisz RA (2004)
An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy.
Eur J Neurosci 19: 3048-3058.

Bajorat R, Brauer AU, Wasner U, Rolfs A, Strauss U (2005)
Functional significance of HCN2/3-mediated I(h) in striatal cells at early developmental stages.
J Neurosci Res 82: 206-213.

Glass A, Henning J, Karopka T, Scheel T, Bansemer S, Koczan D, Gierl L, Rolfs A, Gimsa U (2005)
Representation of individual gene expression in completely pooled mRNA samples.
Biosci Biotechnol Biochem 69: 1098-1103.

Hadjilambreva G, Mix E, Rolfs A, Muller J, Strauss U (2005)
Neuromodulation by a cytokine: interferon-beta differentially augments neocortical neuronal activity and excitability.
J Neurophysiol 93: 843-852.

Mazon P, I, Vogler S, Strauss U, Wernhoff P, Pahnke J, Brockmann G, Moch H, Thiesen HJ, Rolfs A, Ibrahim SM (2005)
Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease.
Hum Mol Genet 14: 1977-1989.

Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Lohr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R (2005)
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Lancet 366: 1794-1796.

Strauss U, Herbrik M, Mix E, Bajorat R, Jung S, Gimsa U, Rolfs A (2005)
Dopamine exerts no acute effects on Kv1.3 in activated encephalitogenic T cells.
Neuroimmunomodulation 12: 45-53.

Hoffrogge R, Beyer S, Volker U, Uhrmacher AM, Rolfs A (2006)
2-DE proteomic profiling of neuronal stem cells.
Neurodegener Dis 3: 112-121.

Hoffrogge R, Mikkat S, Scharf C, Beyer S, Christoph H, Pahnke J, Mix E, Berth M, Uhrmacher A, Zubrzycki IZ, Miljan E, Volker U, Rolfs A (2006)
2-DE proteome analysis of a proliferating and differentiating human neuronal stem cell line (ReNcell VM).
Proteomics 6: 1833-1847.

Lange C, Mix E, Rateitschak K, Rolfs A (2006)
Wnt signal pathways and neural stem cell differentiation.
Neurodegener Dis 3: 76-86.

Mix E, Ibrahim SM, Pahnke J, Glass A, Mazon-Pelaez I, Lemcke S, Koczan D, Gimsa U, Bansemer S, Scheel T, Karopka T, Bottcher T, Muller J, Dazert E, Antipova V, Hoffrogge R, Wree A, Zschiesche M, Strauss U, Kundt G, Warzok R, Gierl L, Rolfs A (2006)
3-Hydroxy-3-methylglutaryl coenzyme A reductase inhibitor Atorvastatin mediated effects depend on the activation status of target cells in PLP-EAE.
J Autoimmun 27: 251-265.

Rocha N, Rolfs A, Strauss U (2006)
Ih is maturing: implications for neuronal development.
Neurodegener Dis 3: 27-31.

Beyer S, Mix E, Hoffrogge R, Lunser K, Volker U, Rolfs A (2007)
Neuroproteomics in stem cell differentiation.
Proteomics Clin Appl 1: 1513-1523.

Henning J, Koczan D, Glass A, Karopka T, Pahnke J, Rolfs A, Benecke R, Gimsa U (2007)
Deep brain stimulation in a rat model modulates TH, CaMKIIa and Homer1 gene expression.
Eur J Neurosci 25: 239-250.

Hoffrogge R, Beyer S, Hubner R, Mikkat S, Mix E, Scharf C, Schmitz U, Pauleweit S, Berth M, Zubrzycki IZ, Christoph H, Pahnke J, Wolkenhauer O, Uhrmacher A, Volker U, Rolfs A (2007)
2-DE profiling of GDNF overexpression-related proteome changes in differentiating ST14A rat progenitor cells.
Proteomics 7: 33-46.

Henning J, Strauss U, Wree A, Gimsa J, Rolfs A, Benecke R, Gimsa U (2008)
Differential astroglial activation in 6-hydroxydopamine models of Parkinson's disease.
Neurosci Res 62: 246-253.

Hovakimyan M, Weinreich K, Haas SJ, Cattaneo E, Rolfs A, Wree A (2008)
In vitro characterization of embryionic ST14A-cells.
Int J Neurosci 118: 1489-1501.

Pews-Davtyan A, Tillack A, Ortinau S, Rolfs A, Beller M (2008)
Efficient palladium-catalyzed synthesis of 3-aryl-4-indolylmaleimides.
Org Biomol Chem 6: 992-997.

Strauss U, Zhou FW, Henning J, Battefeld A, Wree A, Kohling R, Haas SJ, Benecke R, Rolfs A, Gimsa U (2008)
Increasing extracellular potassium results in subthalamic neuron activity resembling that seen in a 6-hydroxydopamine lesion.
J Neurophysiol 99: 2902-2915.

Wasner U, Geist B, Battefeld A, Bauer P, Muller J, Rolfs A, Strauss U (2008)
Specific properties of sodium currents in multipotent striatal progenitor cells.
Eur J Neurosci 28: 1068-1079.

Beyer S, Raether G, Stadler K, Hoffrogge R, Scharf C, Rolfs A, Mix E, Strauss U (2009)
Interferon-beta modulates protein synthesis in the central nervous system.
J Neuroimmunol 213: 31-38.

Falke K, Buttner A, Schittkowski M, Stachs O, Kraak R, Zhivov A, Rolfs A, Guthoff R (2009)
The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study.
Graefes Arch Clin Exp Ophthalmol 247: 523-534.

Luo J, Ju MJ, Lin J, Yan X, Markus A, Mix E, Rolfs A, Redies C (2009)
Cadherin-20 expression by motor neurons is regulated by Sonic hedgehog during spinal cord development.
Neuroreport 20: 365-370.

Morgan PJ, Ortinau S, Frahm J, Kruger N, Rolfs A, Frech MJ (2009)
Protection of neurons derived from human neural progenitor cells by veratridine.
Neuroreport 20: 1225-1229.

Giese AK, Frahm J, Hubner R, Luo J, Wree A, Frech MJ, Rolfs A, Ortinau S (2010)
Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells.
BMC Cell Biol 11: 94.

Hubner R, Schmole AC, Liedmann A, Frech MJ, Rolfs A, Luo J (2010)
Differentiation of human neural progenitor cells regulated by Wnt-3a.
Biochem Biophys Res Commun 400: 358-362.

Ortinau S, Schmich J, Block S, Liedmann A, Jonas L, Weiss DG, Helm CA, Rolfs A, Frech MJ (2010)
Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells.
Biomed Eng Online 9: 70.

Pews-Davtyan A, Tillack A, Schmole AC, Ortinau S, Frech MJ, Rolfs A, Beller M (2010)
A new facile synthesis of 3-amidoindole derivatives and their evaluation as potential GSK-3beta inhibitors.
Org Biomol Chem 8: 1149-1153.

Schmole AC, Brennfuhrer A, Karapetyan G, Jaster R, Pews-Davtyan A, Hubner R, Ortinau S, Beller M, Rolfs A, Frech MJ (2010)
Novel indolylmaleimide acts as GSK-3beta inhibitor in human neural progenitor cells.
Bioorg Med Chem 18: 6785-6795.

Yan X, Lin J, Wang H, Markus A, Wree A, Rolfs A, Luo J (2010)
Regional expression of the ADAMs in developing chicken cochlea.
Dev Dyn 239: 2256-2265.

Lin J, Yan X, Markus A, Redies C, Rolfs A, Luo J.
Expression of seven members of the ADAM family in developing chicken spinal cord.
Dev. Dyn. 2010. 239: 1246-1254.

Lin J, Luo J, Redies C.
Cadherin-19 expression is restricted to myelin-forming cells in the chicken embryo. Neuroscience.
2010. 165: 168-178.

Lin J, Luo J, Redies C.
Molecular characterization and expression analysis of ADAM12 during chicken embryonic development.
Dev. Growth Differ. 2010. 52: 757-769.