PubRank

R Tawil

Author PubWeight™ 41.29‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001 4.25
2 Correlating phenotype and genotype in the periodic paralyses. Neurology 2004 2.55
3 Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991 2.48
4 The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2005 2.17
5 Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994 2.15
6 Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2006 2.14
7 Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010 2.01
8 Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology 2010 1.63
9 PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003 1.46
10 Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997 1.42
11 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994 1.33
12 Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther 1994 1.33
13 Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997 1.24
14 Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology 2007 1.22
15 Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology 2001 1.15
16 Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci 1999 1.08
17 Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Nat Genet 1993 1.01
18 Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology 1993 0.97
19 SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide. Neurology 2004 0.95
20 Drug treatment for facioscapulohumeral muscular dystrophy. Cochrane Database Syst Rev 2004 0.88
21 Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999 0.88
22 Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology 1998 0.87
23 Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 1992 0.85
24 Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. Arch Neurol 1994 0.85
25 Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group. Muscle Nerve Suppl 1995 0.83
26 Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. J Clin Neuromuscul Dis 2001 0.79
27 Comparison of oral propranolol and verapamil for combined systemic hypertension and angina pectoris. A placebo-controlled double-blind randomized crossover trial. Am J Cardiol 1982 0.79
28 Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology 2006 0.78
29 A puzzling case of periodic paralysis. Muscle Nerve 1996 0.77
30 K-40 and dual-energy X-ray absorptiometry estimates of lean weight compared. Normals and patients with neuromuscular disease. Ann N Y Acad Sci 2000 0.77
31 Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. Muscle Nerve Suppl 1995 0.75