Detalles de la búsqueda
1.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Int J Mol Sci
; 24(2)2023 Jan 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36675256
2.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab
; 131(3): 349-357, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33153867
3.
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
Mol Genet Metab
; 131(3): 341-348, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33093004
4.
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Mol Genet Metab
; 128(4): 452-462, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31727539
5.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30011114
6.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC Genomics
; 18(Suppl 8): 819, 2017 Nov 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-29143597
7.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Genet Med
; 18(11): 1128-1135, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-26913921
8.
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
Genes (Basel)
; 14(7)2023 07 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37510397
9.
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.
Genes (Basel)
; 11(8)2020 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32722639
10.
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.
Free Radic Biol Med
; 126: 235-248, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30138712
11.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Mitochondrion
; 30: 51-8, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27374853
Resultados
1 -
11
de 11
1
Próxima >
>>