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Publikationen

2018

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. PMID: 29406968

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. PMID: 29463856 Free Full Text Here

2017

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.

2016

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.

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.

Prassas D, Rolfs TM, Sirothia N, Schumacher FJ.
Lightweight Titanium-coated Mesh Versus Standard-Weight Polypropylene Mesh in Totally Extraperitoneal Inguinal Hernia Repair (TEP): A Cohort Analysis.

Surg Laparosc Endosc Percutan Tech. 2016 Dec;26(6):e113-e116.

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.

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.

2015

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.

2014

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.

2013

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.

2012

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.

2011

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.