Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Autosomal Dominant Cerebellar Ataxia[original query] |
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Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain : a journal of neurology 2003 Jul 126 (Pt 7): 1599-603. Stevanin Giovanni, Fujigasaki Hiroto, Lebre Anne-Sophie, Camuzat Agnes, Jeannequin Cecile, Dode Catherine, Takahashi Junko, San Chankranira, Bellance Robert, Brice Alexis, Durr Alexand |
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. Journal of neural transmission (Vienna, Austria : 1996) 2005 Apr 112 (4): 539-46. Wu Y R, Fung H C, Lee-Chen G J, Gwinn-Hardy K, Ro L S, Chen S T, Hsieh-Li H M, Lin H Y, Lin C Y, Li S N, Chen C |
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. Journal of human genetics 2006 51 (4): 363-7. Wieczorek Stefan, Arning Larissa, Alheite Ingrid, Epplen Jörg |
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23. Cerebellum & ataxias 2020 6 7 7. Satoh Shunichi, Kondo Yasufumi, Ohara Shinji, Yamaguchi Tomomi, Nakamura Katsuya, Yoshida Kunihi |
Machado Joseph-Disease Is Rare in the Peruvian Population. Cerebellum (London, England) 2022 11 . Cornejo-Olivas Mario, Solis-Ponce Lesly, Araujo-Aliaga Ismael, Milla-Neyra Karina, Ortega Olimpio, Illanes-Manrique Maryenela, Mazzetti Pilar, Manrique-Enciso Carla, Cubas-Montecino Diana, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sarapura-Castro Elis |
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- Page last updated:Apr 22, 2024
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