PubRank

George W Padberg

Author PubWeight™ 42.28‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010 4.87
2 Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003 3.60
3 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012 2.82
4 Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007 2.54
5 Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 2002 2.42
6 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2009 2.22
7 Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 2003 1.97
8 Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 2004 1.72
9 Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 2005 1.46
10 Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta 2006 1.41
11 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2010 1.40
12 Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009 1.30
13 Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet 2013 1.19
14 Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial. BMC Neurol 2010 1.15
15 Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet 2004 1.13
16 The spectrum of Mobius syndrome: an electrophysiological study. Brain 2005 1.06
17 PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis. Dev Dyn 2002 1.05
18 Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol 2003 0.99
19 Radiologic evidence for absence of the facial nerve in Möbius syndrome. Neurology 2005 0.97
20 Somatic mosaicism in FSHD often goes undetected. Ann Neurol 2004 0.94
21 Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. Am J Med Genet B Neuropsychiatr Genet 2008 0.89
22 Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. Genomics 2005 0.86
23 Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands. Neuromuscul Disord 2011 0.86
24 Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2005 0.84
25 Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. Neurology 2013 0.81
26 Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur J Hum Genet 2006 0.81
27 Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis. Brain Res Dev Brain Res 2005 0.76
28 Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients. Pediatr Neurol 2004 0.76
29 Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol. BMC Neurol 2013 0.76
30 Pushing the genetic frontier with facioscapulohumeral muscular dystrophy. Neurology 2007 0.75
31 Electrophysiological assessment in patients with Möbius syndrome and clumsiness. J Clin Neurophysiol 2005 0.75