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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.

 

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.

 

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.