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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O. Bauer I, et al. Among authors: gencik m. Ann Neurol. 2002 May;51(5):662. doi: 10.1002/ana.10184. Ann Neurol. 2002. PMID: 12112122 No abstract available.
Morbus Huntington - a human genetic model disease.
Epplen JT, Gencik M, Epplen A, Andrich J, Saft C, Przuntek H. Epplen JT, et al. Among authors: gencik m. Cytogenet Cell Genet. 2000;91(1-4):90-6. doi: 10.1159/000056825. Cytogenet Cell Genet. 2000. PMID: 11173837 Review. No abstract available.
A prepro-orexin gene polymorphism is associated with narcolepsy.
Gencik M, Dahmen N, Wieczorek S, Kasten M, Bierbrauer J, Anghelescu I, Szegedi A, Menezes Saecker AM, Epplen JT. Gencik M, et al. Neurology. 2001 Jan 9;56(1):115-7. doi: 10.1212/wnl.56.1.115. Neurology. 2001. PMID: 11148249
Gene symbol: RYR1. Disease: malignant hyperthermia.
Dekomien G, Gencik M, Gencikova A, Klenk Y, Epplen JT. Dekomien G, et al. Among authors: gencik m. Hum Genet. 2005 Dec;118(3-4):541. Hum Genet. 2005. PMID: 16521280 No abstract available.
Gene symbol: RYR1. Disease: malignant hyperthermia.
Dekomien G, Gencik M, Gencikova A, Klenk Y, Epplen JT. Dekomien G, et al. Among authors: gencik m. Hum Genet. 2005 Dec;118(3-4):541-2. Hum Genet. 2005. PMID: 16521281 No abstract available.
61 results