Senataxin mutations and amyotrophic lateral sclerosis

We studied three patients with mutations in the senataxin gene (SETX). One had juvenile onset of ALS. The second case resembled hereditary motor neuropathy. The third patient had an overlap syndrome of ataxia-tremor and motor neuron disease, phenotypes previously associated with SETX mutations. Our...

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Pubblicato in:Amyotroph Lateral Scler
Autori principali: HIRANO, MICHIO, QUINZII, CATARINA M., MITSUMOTO, HIROSHI, HAYS, ARTHUR P., ROBERTS, J. KIRK, RICHARD, PATRICIA, ROWLAND, LEWIS P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7528023/
https://ncbi.nlm.nih.gov/pubmed/21190393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/17482968.2010.545952
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