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_
Sporadic ALS with early-onset respiratory failure is not associated with IGHMBP2 gene mutations.
Kühnlein P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K et al.
Nature Genetics, 2001
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