1 K11 HD00940/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

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Subject: 1 K11 HD00940/HD/NICHD NIH HHS/United States[Gran - PubMed

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Year	Number of Results
1991	1
1994	2
2025	0

3 results

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Ptácek LJ, et al. Cell. 1991 Nov 29;67(5):1021-7. doi: 10.1016/0092-8674(91)90374-8. Cell. 1991. PMID: 1659948

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Ptáĉek LJ, et al. Neurology. 1994 Aug;44(8):1500-3. doi: 10.1212/wnl.44.8.1500. Neurology. 1994. PMID: 8058156

Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.

Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Gouw LG, et al. Neurology. 1994 Aug;44(8):1441-7. doi: 10.1212/wnl.44.8.1441. Neurology. 1994. PMID: 8058146

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