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pro vyhledávání: '"Robin Dagher"'
Autor:
Afrooz Dabbaghizadeh, Alexandre Paré, Zacharie Cheng-Boivin, Robin Dagher, Sandra Minotti, Marie-Josée Dicaire, Bernard Brais, Jason C. Young, Heather D. Durham, Benoit J. Gentil
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15742 (2022)
Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS) is caused by mutation in the SACS gene resulting in loss of function of the protein sacsin. A key feature is the formation of abnormal bundles of neurofilaments (NF) in neurons an
Externí odkaz:
https://doaj.org/article/7450367caf1a4e8f95179b3ef9912da8
Publikováno v:
Molecular genetics and metabolism. 133(1)
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. MTP deficiency is a rare autosomal recessive disorder affecting long-chain fatty acid oxidation. Patients affected by MTP deficiency are unable to metabolize lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb723e882d356a9eac8cdff294c7a44b
https://pubmed.ncbi.nlm.nih.gov/33744096
https://pubmed.ncbi.nlm.nih.gov/33744096