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Results: 1-2 |
Results: 2
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
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: 1-2 |