Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S2__MITNGS_S2_
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A et al.
Journal of Neurology, 2020
32447552 (PubMed )
Supplement: 415_2020_9861_MOESM1_ESM.pdf
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Musova Z et al.
Cerebellum (london, England), 2014
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Wilkinson PA et al.
Brain : a Journal of Neurology, 2004
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