Detalhe da pesquisa
1.
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits.
Cell
; 180(6): 1178-1197.e20, 2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32200800
2.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
3.
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Eur J Neurol
; 31(2): e16138, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015438
4.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Eur J Neurol
; : e16292, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587143
5.
CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2.
Hum Mol Genet
; 29(7): 1096-1106, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068847
6.
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Eur J Neurol
; 29(4): 1181-1186, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927321
7.
Melanoma addiction to the long non-coding RNA SAMMSON.
Nature
; 531(7595): 518-22, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008969
8.
PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome.
Proc Natl Acad Sci U S A
; 116(1): 277-286, 2019 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578322
9.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
10.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
11.
Restricted Sensitivity of FJ-C Staining to Assess Neuronal Degeneration and Death in Preclinical Mouse Studies.
Vet Pathol
; 58(4): 643-649, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397212
12.
Spontaneous Incidental Brain Lesions in C57BL/6J Mice.
Vet Pathol
; 57(1): 172-182, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31272300
13.
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.
Hum Mol Genet
; 26(6): 1087-1103, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087734
14.
PARL: The mitochondrial rhomboid protease.
Semin Cell Dev Biol
; 60: 19-28, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27502471
15.
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice.
Neurobiol Dis
; 73: 275-88, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25315682
16.
Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy.
Neuropathol Appl Neurobiol
; 40(7): 888-98, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24708542
17.
Local mitochondrial replication in the periphery of neurons requires the eEF1A1 protein and thetranslation of nuclear-encoded proteins.
iScience
; 27(4): 109136, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38510136
18.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517523
19.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268028
20.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746462