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Results: 1-11 |
Results: 11
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
Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1
Authors: Yu, N Fu, YX Sambuughin, N Ramsay, M Jenkins, T Leskinen, E Patthy, L Jorde, LB Kuromori, T Li, WH
Citation: N. Yu et al., Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1, MOL BIOL EV, 18(2), 2001, pp. 214-222
Malignant hyperthermia and apparent heat stroke
Authors: Tobin, JR Jason, DR Challa, VR Nelson, TE Sambuughin, N
Citation: Jr. Tobin et al., Malignant hyperthermia and apparent heat stroke, J AM MED A, 286(2), 2001, pp. 168-169
Novel mutation of the Spastin gene in familial spastic paraplegia
Authors: de Bantel, A McWilliams, S Auysh, D Echol, C Sambuughin, N Sivakumar, K
Citation: A. De Bantel et al., Novel mutation of the Spastin gene in familial spastic paraplegia, CLIN GENET, 59(5), 2001, pp. 364-365
North American malignant hyperthermia population - Screening of the ryanodine receptor gene and identification of novel mutations
Authors: Sambuughin, N Sei, Y Gallagher, KL Wyre, HW Madsen, D Nelson, TE Fletcher, JE Rosenberg, H Muldoon, SM
Citation: N. Sambuughin et al., North American malignant hyperthermia population - Screening of the ryanodine receptor gene and identification of novel mutations, ANESTHESIOL, 95(3), 2001, pp. 594-599
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype
Authors: Sambuughin, N McWilliams, S de Bantel, A Sivakumar, K Nelson, TE
Citation: N. Sambuughin et al., Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype, AM J HU GEN, 69(1), 2001, pp. 204-208
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
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
High polymorphism at the human melanocortin 1 receptor locus
Authors: Rana, BK Hewett-Emmett, D Jin, L Chang, BHJ Sambuughin, N Lin, M Watkins, S Bamshad, M Jorde, LB Ramsay, M Jenkins, T Li, WH
Citation: Bk. Rana et al., High polymorphism at the human melanocortin 1 receptor locus, GENETICS, 151(4), 1999, pp. 1547-1557
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
Risultati: 1-11 |