Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease
2015 · Cerebellum & Ataxias · 14 citations
https://doi.org/10.1186/s40673-015-0020-4
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José Miguel Laffita‐Mesa
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José Miguel Laffita‐Mesa is an academic researcher from Karolinska University Hospital. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Amyotrophic Lateral Sclerosis Research. The author has an h-index of 16, co-authored 45 publications.
Papers by this author
worksGenetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders
2023 · Journal of the Neurological Sciences · 3 citations
https://doi.org/10.1016/j.jns.2023.120707
The <scp><i>ZFHX3</i> GGC</scp> Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
2024 · Movement Disorders · 2 citations
https://doi.org/10.1002/mds.30077
CAG repeat instabilities and <i>de novo ATXN2</i> mutations associated with ALS in relationship with the haplotype.
2015 · Figshare · 0 citations
https://doi.org/10.1371/journal.pone.0070560.g004
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