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Results: 1-14 |
Results: 14
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families
Authors: Sambuughin, N Nelson, TE Jankovic, J Xin, CL Meissner, G Mullakandov, M Ji, J Rosenberg, H Sivakumar, K Goldfarb, LG
Citation: N. Sambuughin et al., Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families, NEUROMUSC D, 11(6-7), 2001, pp. 530-537
Gluten sensitivity in sporadic and hereditary cerebellar ataxia
Authors: Bushara, KO Goebel, SU Shill, H Goldfarb, LG Hallett, M
Citation: Ko. Bushara et al., Gluten sensitivity in sporadic and hereditary cerebellar ataxia, ANN NEUROL, 49(4), 2001, pp. 540-543
Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype
Authors: Lee, HS Brown, P Cervenakova, L Garruto, RM Alpers, MP Gajdusek, DC Goldfarb, LG
Citation: Hs. Lee et al., Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype, J INFEC DIS, 183(2), 2001, pp. 192-196
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
Authors: Altarescu, GM Goldfarb, LG Park, KY Kaneski, C Jeffries, N Litvak, S Nagle, JW Schiffmann, R
Citation: Gm. Altarescu et al., Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease, CLIN GENET, 60(1), 2001, pp. 46-51
Spinocerebellar ataxia type 1 in China - Molecular analysis and genotype-phenotype correlation in 5 families
Authors: Zhou, YX Qiao, WH Gu, WH Xie, H Tang, BS Zhou, LS Yang, BX Takiyama, Y Tsuji, S He, HY Deng, CX Goldfarb, LG Wang, GX
Citation: Yx. Zhou et al., Spinocerebellar ataxia type 1 in China - Molecular analysis and genotype-phenotype correlation in 5 families, ARCH NEUROL, 58(5), 2001, pp. 789-794
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Authors: Dalakas, MC Park, KY Semino-Mora, C Lee, HS Sivakumar, K Goldfarb, LG
Citation: Mc. Dalakas et al., Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene., N ENG J MED, 342(11), 2000, pp. 770-780
Inherited prion encephalopathy associated with the novel PRNP H187R mutation - A clinical study
Authors: Butefisch, CM Gambetti, P Cervenakova, L Park, KY Hallett, M Goldfarb, LG
Citation: Cm. Butefisch et al., Inherited prion encephalopathy associated with the novel PRNP H187R mutation - A clinical study, NEUROLOGY, 55(4), 2000, pp. 517-522
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)
Authors: Cervenakova, L Protas, II Hirano, A Votiakov, VI Nedzved, MK Kolomiets, ND Taller, I Park, KY Sambuughin, N Gajdusek, DC Brown, P Goldfarb, LG
Citation: L. Cervenakova et al., Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS), J NEUR SCI, 177(2), 2000, pp. 124-130
Desmin splice variants causing cardiac and skeletal myopathy
Authors: Park, KY Dalakas, MC Goebel, HH Ferrans, VJ Semino-Mora, C Litvak, S Takeda, K Goldfarb, LG
Citation: Ky. Park et al., Desmin splice variants causing cardiac and skeletal myopathy, J MED GENET, 37(11), 2000, pp. 851-857
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation
Authors: Park, KY Dalakas, MC Semino-Mora, C Lee, HS Litvak, S Takeda, K Ferrans, VJ Goldfarb, LG
Citation: Ky. Park et al., Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation, CLIN GENET, 57(6), 2000, pp. 423-429
Novel exon 3B proteolipid protein gene mutation causing late-onset spasticparaplegia type 2 with variable penetrance in female family members
Authors: Sivakumar, K Sambuughin, N Selenge, B Nagle, JW Baasanjav, D Hudson, LD Goldfarb, LG
Citation: K. Sivakumar et al., Novel exon 3B proteolipid protein gene mutation causing late-onset spasticparaplegia type 2 with variable penetrance in female family members, ANN NEUROL, 45(5), 1999, pp. 680-683
Novel PRNP sequence variant associated with familial encephalopathy
Authors: Cervenakova, L Buetefisch, C Lee, HS Taller, I Stone, G Gibbs, CJ Brown, P Hallett, M Goldfarb, LG
Citation: L. Cervenakova et al., Novel PRNP sequence variant associated with familial encephalopathy, AM J MED G, 88(6), 1999, pp. 653-656
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease
Authors: Lee, HS Sambuughin, N Cervenakova, L Chapman, J Pocchiari, M Litvak, S Qi, HY Budka, H del Ser, T Furukawa, H Brown, P Gajdusek, DC Long, JC Korczyn, AD Goldfarb, LG
Citation: Hs. Lee et al., Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease, AM J HU GEN, 64(4), 1999, pp. 1063-1070
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15
Authors: Sambuughin, N Sivakumar, K Selenge, B Lee, HS Friedlich, D Baasanjav, D Dalakas, MC Goldfarb, LG
Citation: N. Sambuughin et al., Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15, J NEUR SCI, 161(1), 1998, pp. 23-28
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