Hand C - Search Results

1

[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature].

Jafari-Schluep HF, Khoris J, Mayeux-Portas V, Hand C, Rouleau G, Camu W; Groupe Français d'Etude des Maladies du Motoneurone. Jafari-Schluep HF, et al. Among authors: hand c. Rev Neurol (Paris). 2004 Jan;160(1):44-50. doi: 10.1016/s0035-3787(04)70846-2. Rev Neurol (Paris). 2004. PMID: 14978393 Review. French.

2

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.

Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA. Hand CK, et al. Am J Hum Genet. 2002 Jan;70(1):251-6. doi: 10.1086/337945. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706389 Free PMC article.

3

Familial amyotrophic lateral sclerosis.

Hand CK, Rouleau GA. Hand CK, et al. Muscle Nerve. 2002 Feb;25(2):135-59. doi: 10.1002/mus.10001. Muscle Nerve. 2002. PMID: 11870681 Review.

4

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA. Hand CK, et al. Ann Neurol. 2001 Feb;49(2):267-71. doi: 10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0.co;2-d. Ann Neurol. 2001. PMID: 11220750

5

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA. Hand CK, et al. Arch Neurol. 2003 Dec;60(12):1768-71. doi: 10.1001/archneur.60.12.1768. Arch Neurol. 2003. PMID: 14676054

6

A founder mutation in French-Canadian families with X-linked hereditary neuropathy.

Dupré N, Cossette L, Hand CK, Bouchard JP, Rouleau GA, Puymirat J. Dupré N, et al. Among authors: hand ck. Can J Neurol Sci. 2001 Feb;28(1):51-5. doi: 10.1017/s0317167100052550. Can J Neurol Sci. 2001. PMID: 11252295

7

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE. Hadano S, et al. Among authors: hand ck. Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166. Nat Genet. 2001. PMID: 11586298

8

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA. Meijer IA, et al. Among authors: hand ck. Am J Hum Genet. 2002 Mar;70(3):763-9. doi: 10.1086/338933. Epub 2001 Dec 31. Am J Hum Genet. 2002. PMID: 11774073 Free PMC article.

9

A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy.

Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. Grewal KK, et al. Among authors: hand ck. Am J Med Genet A. 2004 Dec 15;131(3):249-54. doi: 10.1002/ajmg.a.30397. Am J Med Genet A. 2004. PMID: 15523628

10

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Meijer IA, et al. Arch Neurol. 2002 Feb;59(2):281-6. doi: 10.1001/archneur.59.2.281. Arch Neurol. 2002. PMID: 11843700

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