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Results: 1-8 |
Results: 8
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
Authors: Hand, CK Khoris, J Salachas, F Gros-Louis, F Lopes, AAS Mayeux-Portas, V Brown, RH Meininger, V Camu, W Rouleau, GA
Citation: Ck. Hand et al., A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q, AM J HU GEN, 70(1), 2002, pp. 251-256
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (vol 29, pg 166, 2001)
Authors: 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 Scherer, SW Rouleau, GA Hayden, MR Ikeda, JE
Citation: S. Hadano et al., A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (vol 29, pg 166, 2001), NAT GENET, 29(3), 2001, pp. 352-352
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
Authors: 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 Scherer, SW Rouleau, GA Hayden, MR Ikeda, JE
Citation: S. Hadano et al., A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2, NAT GENET, 29(2), 2001, pp. 166-173
Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees - Reply
Authors: Hand, CK Mayeux-Portas, V Khoris, J Briolotti, V Clavelou, P Camu, W Rouleau, GA
Citation: Ck. Hand et al., Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees - Reply, ANN NEUROL, 50(4), 2001, pp. 554-554
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
Authors: Hand, CK Mayeux-Portas, V Khoris, J Briolotti, V Clavelou, P Camu, W Rouleau, GA
Citation: Ck. Hand et al., Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family, ANN NEUROL, 49(2), 2001, pp. 267-271
A founder mutation in French-Canadian families with X-linked hereditary neuropathy
Authors: Dupre, N Cossette, L Hand, CK Bouchard, JP Rouleau, GA Puymirat, J
Citation: N. Dupre et al., A founder mutation in French-Canadian families with X-linked hereditary neuropathy, CAN J NEUR, 28(1), 2001, pp. 51-55
Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping
Authors: Hand, CK Harmon, DL Kennedy, SM FitzSimon, JS Collum, LMT Parfrey, NA
Citation: Ck. Hand et al., Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping, GENOMICS, 61(1), 1999, pp. 1-4
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
Authors: Callaghan, M Hand, CK Kennedy, SM FitzSimon, JS Collum, LMT Parfrey, NA
Citation: M. Callaghan et al., Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct, BR J OPHTH, 83(1), 1999, pp. 115-119
Risultati: 1-8 |