Detalhe da pesquisa
1.
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
J Neurol
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549004
2.
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
J Neuromuscul Dis
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38759022
3.
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Front Neurol
; 14: 1292320, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38107630
4.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nat Commun
; 14(1): 1009, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823193
5.
Primary mitochondrial myopathies in childhood.
Neuromuscul Disord
; 31(10): 978-987, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34736635