Tawil R - Search Results

1

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.

Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Tawil R, et al. Ann Neurol. 1996 Jun;39(6):744-8. doi: 10.1002/ana.410390610. Ann Neurol. 1996. PMID: 8651646

2

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Ptacek LJ, et al. Among authors: tawil r. Neurology. 1992 Feb;42(2):431-3. doi: 10.1212/wnl.42.2.431. Neurology. 1992. PMID: 1310531

3

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Ptácek LJ, et al. Among authors: tawil r. Cell. 1991 Nov 29;67(5):1021-7. doi: 10.1016/0092-8674(91)90374-8. Cell. 1991. PMID: 1659948

4

Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus.

Tawil R, Myers GJ, Weiffenbach B, Griggs RC. Tawil R, et al. Arch Neurol. 1995 Nov;52(11):1069-72. doi: 10.1001/archneur.1995.00540350055017. Arch Neurol. 1995. PMID: 7487558

5

Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group.

Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B. Griggs RC, et al. Among authors: tawil r. Muscle Nerve Suppl. 1995;2:S50-5. Muscle Nerve Suppl. 1995. PMID: 7739626

6

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al. Ptácek LJ, et al. Among authors: tawil r. Cell. 1994 Jun 17;77(6):863-8. doi: 10.1016/0092-8674(94)90135-x. Cell. 1994. PMID: 8004673

7

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Ptáĉek LJ, et al. Among authors: tawil r. Neurology. 1994 Aug;44(8):1500-3. doi: 10.1212/wnl.44.8.1500. Neurology. 1994. PMID: 8058156

8

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.

Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. Tawil R, et al. Ann Neurol. 1994 Mar;35(3):326-30. doi: 10.1002/ana.410350313. Ann Neurol. 1994. PMID: 8080508

9

Extreme variability of expression in monozygotic twins with FSH muscular dystrophy.

Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC. Tawil R, et al. Neurology. 1993 Feb;43(2):345-8. doi: 10.1212/wnl.43.2.345. Neurology. 1993. PMID: 8094896

10

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.

Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, et al. Weiffenbach B, et al. Among authors: tawil r. Nat Genet. 1993 Jun;4(2):165-9. doi: 10.1038/ng0693-165. Nat Genet. 1993. PMID: 8102297

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