The spectrum of Möbius syndrome : an electrophysiological studyVERZIJL, Harriëtte T. F. M; PADBERG, George W; ZWARTS, Machiel J et al.Brain. 2005, Vol 128, pp 1728-1736, issn 0006-8950, 9 p., 7Article

Radiologic evidence for absence of the facial nerve in Möbius syndromeVERZIJL, Harriëtte T. F. M; VALK, Jaap; DE VRIES, Rob et al.Neurology. 2005, Vol 64, Num 5, pp 849-855, issn 0028-3878, 7 p.Article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2LEMMERS, Richard J. L. F; TAWIL, Rabi; KROM, Yvonne D et al.Nature genetics. 2012, Vol 44, Num 12, pp 1370-1374, issn 1061-4036, 5 p.Article

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patientsVAN DER ZWAAG, Bert; VERZIJL, Harriette T. F. M; WICHERS, Karin H et al.Pediatric neurology. 2004, Vol 31, Num 2, pp 114-118, issn 0887-8994, 5 p.Article

A Unifying Genetic Model for Facioscapulohumeral Muscular DystrophyLEMMERS, Richard J. L. F; VAN DER VLIET, Patrick J; MILLER, Daniel G et al.Science (Washington, D.C.). 2010, Vol 329, Num 5999, pp 1650-1653, issn 0036-8075, 4 p.Article

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CAUER-GRUMBACH, Michaela; OLSCHEWSKI, Andrea; STROHMAIER, Heimo et al.Nature genetics. 2010, Vol 42, Num 2, pp 160-164, issn 1061-4036, 5 p.Article

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophyLEMMERS, Richard J. F. L; WOHLGEMUTH, Mariëlle; FRANTS, Rune R et al.American journal of human genetics. 2004, Vol 75, Num 6, pp 1124-1130, issn 0002-9297, 7 p.Article

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophyVAN OVERVELD, Petra G. M; LEMMERS, Richard J. F. L; SANDKUIJL, Lodewijk A et al.Nature genetics. 2003, Vol 35, Num 4, pp 315-317, issn 1061-4036, 3 p.Article

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophyLEMMERS, Richard J. L. F; WOHLGEMUTH, Mariëlle; VAN DER GAAG, Kristiaan J et al.American journal of human genetics. 2007, Vol 81, Num 5, pp 884-894, issn 0002-9297, 11 p.Article

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouseVAN DER ZWAAG, Bert; BURBACH, J. Peter H; SCHARFE, Curt et al.Genomics (San Diego, Calif.). 2005, Vol 86, Num 1, pp 55-67, issn 0888-7543, 13 p.Article

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophyLEMMERS, Richard J. L. F; VAN OVERVELD, Petra G. M; SANDKUIJL, Lodewijk A et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 44-53, issn 0002-9297, 10 p.Article

Somatic mosaicism in FSHD often goes undetectedLEMMERS, Richard J. L. F; VAN DER WIELEN, Michiel J. R; BAKKER, Egbert et al.Annals of neurology. 2004, Vol 55, Num 6, pp 845-850, issn 0364-5134, 6 p.Article

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophyLASSCHE, Saskia; STIENEN, Ger J. M; IRVING, Tom C et al.Neurology. 2013, Vol 80, Num 8, pp 733-737, issn 0028-3878, 5 p.Article

Confirmation of Dyslexia Susceptibility Loci on Chromosomes 1p and 2p, but Not 6p in a Dutch Sib-Pair CollectionDE KOVEL, Carolien G. F; FRANKE, Barbara; HOL, Frans A et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2008, Vol 147, Num 3, pp 294-300, issn 1552-4841, 7 p.Article

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophyVAN OVERVELD, Petra G. M; ENTHOVEN, Leo; RICCI, Enzo et al.Annals of neurology. 2005, Vol 58, Num 4, pp 569-576, issn 0364-5134, 8 p.Article

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaintVAN DER SLUIJS, Barbara M; HOEFSLOOT, Lies H; PADBERG, George W et al.Journal of neurology. 2003, Vol 250, Num 11, pp 1307-1312, issn 0340-5354, 6 p.Article

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomereLEMMERS, Richard J. L. F; KIEVIT, Peggy De; SANDKUIJL, Lodewijk et al.Nature genetics. 2002, Vol 32, Num 2, pp 235-236, issn 1061-4036, 2 p.Article

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysisLEMMERS, Richard J. L. F; DE KIEVIT, Peggy; VAN GEEL, Michel et al.Annals of neurology. 2001, Vol 50, Num 6, pp 816-819, issn 0364-5134Article