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Rainier, Shirley; Sher, Carron; Reish, Orit et al. (2006) De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol 63:445-7
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Moretti, Paolo; Hedera, Peter; Wald, John et al. (2005) Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov Disord 20:245-7
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Hedera, P; Eldevik, O P; Maly, P et al. (2005) Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology 47:730-4
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Lorincz, Matthew T; Rainier, Shirley; Thomas, Donald et al. (2005) Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol 62:1459-63
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Chen, Dong-Hui; Matsushita, Mark; Rainier, Shirley et al. (2005) Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 62:597-600
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Rainier, Shirley; Thomas, Donald; Tokarz, Debra et al. (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61:1025-9
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Meredith, Christopher; Herrmann, Ralf; Parry, Cheryl et al. (2004) Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 75:703-8
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Hedera, Peter; Petty, Elizabeth M; Bui, Melanie R et al. (2003) The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. Arch Neurol 60:1321-5
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Fink, John K (2003) The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 60:1045-9
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Rainier, Shirley; Chai, Jing-Hua; Tokarz, Debra et al. (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73:967-71
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Showing the most recent 10 out of 38 publications
