Rare Diseases
Records 1 - 5 (of 5 Records) |
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Chen Zhongbo et al. Brain : a journal of neurology 2023 |
Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome. Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4 |
NGS in Hereditary Ataxia: When Rare Becomes Frequent. Galatolo Daniele et al. International journal of molecular sciences 2021 22(16) |
DINAX- a comprehensive database of inherited ataxias. Chaudhari Sima et al. Computers in biology and medicine 2020 Sep 126104000 |
Molecular genetic testing for hereditary ataxia: What every neurologist should know. Wallace Stephanie E et al. Neurology. Clinical practice 2018 Feb 8(1) 27-32 |