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Items: 1 to 50 of 341

1.

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.

Dinur T, Zimran A, Becker-Cohen M, Arkadir D, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Revel-Vilk S.

J Clin Med. 2019 Oct 11;8(10). pii: E1662. doi: 10.3390/jcm8101662.

2.

Stimulation of mGluR1/5 Improves Defective Internalization of AMPA Receptors in NPC1 Mutant Mouse.

Feng X, Yang F, Rabenstein M, Wang Z, Frech MJ, Wree A, Bräuer AU, Witt M, Gläser A, Hermann A, Rolfs A, Luo J.

Cereb Cortex. 2019 Oct 10. pii: bhz179. doi: 10.1093/cercor/bhz179. [Epub ahead of print]

PMID:
31599924
3.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
4.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A.

Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5.

5.

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.

Neßlauer AM, Gläser A, Gräler M, Engelmann R, Müller-Hilke B, Frank M, Burstein C, Rolfs A, Neidhardt J, Wree A, Witt M, Bräuer AU.

Lipids Health Dis. 2019 Jun 28;18(1):146. doi: 10.1186/s12944-019-1088-2.

6.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A.

J Neurodev Disord. 2019 Jun 25;11(1):11. doi: 10.1186/s11689-019-9270-4.

7.

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.

Hurvitz N, Dinur T, Becker-Cohen M, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Abramov A, Zimran A, Revel-Vilk S.

Int J Mol Sci. 2019 Jun 21;20(12). pii: E3033. doi: 10.3390/ijms20123033.

8.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A, Lohmann K.

Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.

PMID:
31230721
9.

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD Jr, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S; AFGen Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; International Genomics of Blood Pressure (iGEN-BP) Consortium; INVENT Consortium; STARNET, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD; BioBank Japan Cooperative Hospital Group; COMPASS Consortium; EPIC-CVD Consortium; EPIC-InterAct Consortium; International Stroke Genetics Consortium (ISGC); METASTROKE Consortium; Neurology Working Group of the CHARGE Consortium; NINDS Stroke Genetics Network (SiGN); UK Young Lacunar DNA Study; MEGASTROKE Consortium, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT Jr, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M.

Nat Genet. 2019 Jul;51(7):1192-1193. doi: 10.1038/s41588-019-0449-0.

10.

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Čerkauskaitė A, Čerkauskienė R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, Vencevičienė L, Barysienė J, Kazėnaitė E, Sadauskienė E.

Medicina (Kaunas). 2019 May 7;55(5). pii: E122. doi: 10.3390/medicina55050122.

11.

Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas.

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.

Adv Med Sci. 2019 Apr 9;64(2):315-323. doi: 10.1016/j.advms.2019.03.004. [Epub ahead of print] Review.

PMID:
30978662
12.

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C.

Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3.

PMID:
30973967
13.

Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice.

Yang F, Guan Y, Feng X, Rolfs A, Schlüter H, Luo J.

Mol Brain. 2019 Mar 11;12(1):17. doi: 10.1186/s13041-019-0440-9.

14.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.

J Hum Genet. 2019 May;64(5):409-419. doi: 10.1038/s10038-019-0582-8. Epub 2019 Feb 28.

PMID:
30816285
15.

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Yüksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P.

Clin Genet. 2019 May;95(5):631-633. doi: 10.1111/cge.13513. Epub 2019 Feb 21. No abstract available.

PMID:
30791088
16.

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping.

Roller FC, Fuest S, Meyer M, Harth S, Gündüz D, Bauer P, Schneider C, Rolfs A, Krombach GA, Tanislav C.

Rofo. 2019 Oct;191(10):932-939. doi: 10.1055/a-0836-2723. Epub 2019 Feb 12.

17.

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

Arkadir D, Dinur T, Becker Cohen M, Revel-Vilk S, Tiomkin M, Brüggemann N, Cozma C, Rolfs A, Zimran A.

Eur J Neurol. 2019 Jul;26(7):1013-1018. doi: 10.1111/ene.13927. Epub 2019 Mar 1.

PMID:
30714262
18.

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K.

Parkinsonism Relat Disord. 2019 May;62:196-200. doi: 10.1016/j.parkreldis.2018.12.030. Epub 2019 Jan 2.

PMID:
30712998
19.

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, Alijanpour M, Varasteh A.

Mol Biol Rep. 2019 Feb;46(1):271-285. doi: 10.1007/s11033-018-4469-0. Epub 2019 Feb 2.

PMID:
30712249
20.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA.

Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. No abstract available.

PMID:
30633340
21.

Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.

Al-Dewik N, Ben-Omran T, Zayed H, Trujillano D, Kishore S, Rolfs A, Yassin MA.

Gene. 2019 Mar 20;689:34-42. doi: 10.1016/j.gene.2018.12.009. Epub 2018 Dec 13.

PMID:
30553997
22.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

PMID:
30537300
23.

Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

Cole JW, Xu H, Ryan K, Jaworek T, Dueker N, McArdle P, Gaynor B, Cheng YC, O'Connell J, Bevan S, Malik R, Ahmed NU, Amouyel P, Anjum S, Bis JC, Crosslin D, Danesh J, Engelter ST, Fornage M, Frossard P, Gieger C, Giese AK, Grond-Ginsbach C, Ho WK, Holliday E, Hopewell J, Hussain M, Iqbal W, Jabeen S, Jannes J, Kamal A, Kamatani Y, Kanse S, Kloss M, Lathrop M, Leys D, Lindgren A, Longstreth WT Jr, Mahmood K, Meisinger C, Metso TM, Mosley T Jr, Müller-Nurasyid M, Norrving B, Parati E, Peters A, Pezzini A, Quereshi I, Rasheed A, Rauf A, Salam T, Shen J, Słowik A, Stanne T, Strauch K, Tatlisumak T, Thijs VN, Tiedt S, Traylor M, Waldenberger M, Walters M, Zhao W, Boncoraglio G, Debette S, Jern C, Levi C, Markus H, Meschia J, Rolfs A, Rothwell P, Saleheen D, Seshadri S, Sharma P, Sudlow C, Worrall B; METASTROKE Consortium of the ISGC; WTCCC-2 Consortium, Stine OC, Kittner SJ, Mitchell BD.

PLoS One. 2018 Nov 1;13(11):e0206554. doi: 10.1371/journal.pone.0206554. eCollection 2018.

24.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

25.

Olfactory Performance as an Indicator for Protective Treatment Effects in an Animal Model of Neurodegeneration.

Meyer A, Gläser A, Bräuer AU, Wree A, Strotmann J, Rolfs A, Witt M.

Front Integr Neurosci. 2018 Aug 14;12:35. doi: 10.3389/fnint.2018.00035. eCollection 2018.

26.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D, Rolfs A, Seibler P, Westenberger A, König I, Klein C.

Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441.

PMID:
30153385
27.

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A.

Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13.

28.

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Yavuz H, Bertoli-Avella AM, Alfadhel M, Al-Sannaa N, Kandaswamy KK, Al-Tuwaijri W, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30.

PMID:
30059600
29.

Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease.

Zimran A, Revel-Vilk S, Becker-Cohen M, Chicco G, Arbel N, Rolfs A, Szer J.

Am J Hematol. 2018 Sep;93(9):E246-E248. doi: 10.1002/ajh.25205. Epub 2018 Aug 9. No abstract available.

30.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

Trinh J, Hüning I, Yüksel Z, Baalmann N, Imhoff S, Klein C, Rolfs A, Gillessen-Kaesbach G, Lohmann K.

J Hum Genet. 2018 Sep;63(9):997-1001. doi: 10.1038/s10038-018-0469-0. Epub 2018 Jun 13.

PMID:
29899504
31.

Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by micro-electrode array.

Feng X, Bader BM, Yang F, Segura M, Schultz L, Schröder OH, Rolfs A, Luo J.

Brain Res. 2018 Sep 1;1694:87-93. doi: 10.1016/j.brainres.2018.05.009. Epub 2018 May 16.

PMID:
29753706
32.

Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.

Ebner L, Gläser A, Bräuer A, Witt M, Wree A, Rolfs A, Frank M, Vollmar B, Kuhla A.

Int J Mol Sci. 2018 Mar 24;19(4). pii: E972. doi: 10.3390/ijms19040972.

33.

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH.

J Hum Genet. 2018 Apr;63(4):539. doi: 10.1038/s10038-017-0373-z. Epub 2018 Mar 8.

PMID:
29576627
34.

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD Jr, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S; AFGen Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; International Genomics of Blood Pressure (iGEN-BP) Consortium; INVENT Consortium; STARNET, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD; BioBank Japan Cooperative Hospital Group; COMPASS Consortium; EPIC-CVD Consortium; EPIC-InterAct Consortium; International Stroke Genetics Consortium (ISGC); METASTROKE Consortium; Neurology Working Group of the CHARGE Consortium; NINDS Stroke Genetics Network (SiGN); UK Young Lacunar DNA Study; MEGASTROKE Consortium, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT Jr, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M.

Nat Genet. 2018 Apr;50(4):524-537. doi: 10.1038/s41588-018-0058-3. Epub 2018 Mar 12. Erratum in: Nat Genet. 2019 Jul;51(7):1192-1193.

35.

Glucosylsphingosine is a reliable response biomarker in Gaucher disease.

Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A.

Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074. Epub 2018 Mar 15. No abstract available.

36.

Impact of Reduced Cerebellar EAAT Expression on Purkinje Cell Firing Pattern of NPC1-deficient Mice.

Rabenstein M, Peter F, Rolfs A, Frech MJ.

Sci Rep. 2018 Feb 20;8(1):3318. doi: 10.1038/s41598-018-21805-z.

37.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P.

Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.

38.

Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.

Yang F, Feng X, Rolfs A, Luo J.

J Neurol Sci. 2018 Mar 15;386:56-63. doi: 10.1016/j.jns.2018.01.015. Epub 2018 Jan 12.

PMID:
29406968
39.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221.

PMID:
29388673
40.

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

Lukas J, Knospe AM, Seemann S, Citro V, Cubellis MV, Rolfs A.

J Vis Exp. 2017 Dec 20;(130). doi: 10.3791/56550.

PMID:
29286471
41.

Unmet needs in human genomic variant interpretation.

Bauer P, Karges E, Oprea G, Rolfs A.

Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. No abstract available.

PMID:
29261185
42.

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW.

BMC Med Genet. 2017 Oct 25;18(1):119. doi: 10.1186/s12881-017-0479-3.

43.

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.

Lukas J, Cozma C, Yang F, Kramp G, Meyer A, Neßlauer AM, Eichler S, Böttcher T, Witt M, Bräuer AU, Kropp P, Rolfs A.

Int J Mol Sci. 2017 Oct 20;18(10). pii: E2192. doi: 10.3390/ijms18102192.

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Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.

Peter F, Rost S, Rolfs A, Frech MJ.

Orphanet J Rare Dis. 2017 Aug 25;12(1):145. doi: 10.1186/s13023-017-0697-y.

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ADAM23 promotes neuronal differentiation of human neural progenitor cells.

Markus-Koch A, Schmitt O, Seemann S, Lukas J, Koczan D, Ernst M, Fuellen G, Wree A, Rolfs A, Luo J.

Cell Mol Biol Lett. 2017 Aug 18;22:16. doi: 10.1186/s11658-017-0045-1. eCollection 2017.

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Fluorescent probes for selective protein labeling in lysosomes: a case of α-galactosidase A.

Bohl C, Pomorski A, Seemann S, Knospe AM, Zheng C, Krężel A, Rolfs A, Lukas J.

FASEB J. 2017 Dec;31(12):5258-5267. doi: 10.1096/fj.201700058RRRR. Epub 2017 Aug 15.

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Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke.

Thijs V, Grittner U, Fazekas F, McCabe DJH, Giese AK, Kessler C, Martus P, Norrving B, Ringelstein EB, Schmidt R, Tanislav C, Putaala J, Tatlisumak T, von Sarnowski B, Rolfs A, Enzinger C; Stroke in Fabry (SIFAP1) Investigators.

Stroke. 2017 Sep;48(9):2361-2367. doi: 10.1161/STROKEAHA.117.017406. Epub 2017 Jul 28.

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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Cozma C, Iurașcu MI, Eichler S, Hovakimyan M, Brandau O, Zielke S, Böttcher T, Giese AK, Lukas J, Rolfs A.

Sci Rep. 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2.

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Non-canonical pathway induced by Wnt3a regulates β-catenin via Pyk2 in differentiating human neural progenitor cells.

Narendra Talabattula VA, Morgan P, Frech MJ, Uhrmacher AM, Herchenröder O, Pützer BM, Rolfs A, Luo J.

Biochem Biophys Res Commun. 2017 Sep 9;491(1):40-46. doi: 10.1016/j.bbrc.2017.07.030. Epub 2017 Jul 8.

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Brechet A, Buchert R, Schwenk J, Boudkkazi S, Zolles G, Siquier-Pernet K, Schaber I, Bildl W, Saadi A, Bole-Feysot C, Nitschke P, Reis A, Sticht H, Al-Sanna'a N, Rolfs A, Kulik A, Schulte U, Colleaux L, Abou Jamra R, Fakler B.

Nat Commun. 2017 Jul 4;8:15910. doi: 10.1038/ncomms15910.

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