Detalhe da pesquisa
1.
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Mol Genet Metab
; 122(3): 85-94, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803783
2.
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Clin Genet
; 86(4): 326-34, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24033328
3.
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Nat Genet
; 27(1): 117-20, 2001 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11138011
4.
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Nat Genet
; 6(3): 257-62, 1994 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8012387
5.
[Cavitary lesions in multiple sclerosis: multicenter study on twenty patients]. / Formes cavitaires de sclérose en plaques: étude multicentrique sur vingt patients.
Rev Neurol (Paris)
; 169(12): 965-9, 2013 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-24139243
6.
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]. / Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données.
Rev Neurol (Paris)
; 169(8-9): 583-94, 2013.
Artigo
em Francês
| MEDLINE | ID: mdl-23954141
7.
De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
Pathol Biol (Paris)
; 59(6): 309-13, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21145667
8.
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases]. / Histoire naturelle des leucodystrophies avec mutation EIF2B: étude rétrospective multicentrique de 24 cas adultes.
Rev Neurol (Paris)
; 167(11): 802-11, 2011 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-21676421
9.
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
AJNR Am J Neuroradiol
; 40(5): 788-791, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023660
10.
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.
Eur J Neurol
; 15(1): 94-7, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18005052
11.
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.
AJNR Am J Neuroradiol
; 39(9): 1657-1661, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30115677
12.
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations]. / Le syndrome CACH/VWM et les leucodystrophies liées à des mutations EIF2B.
Rev Neurol (Paris)
; 163(8-9): 793-9, 2007 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-17878805
13.
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.
Cell Death Discov
; 2: 16017, 2016 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27275396
14.
Quantitative decrease of human cytochrome c oxidase during development: evidences for a post-transcriptional regulation.
Biochim Biophys Acta
; 1318(1-2): 191-201, 1997 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-9030264
15.
Enzymatic activities of mitochondrial respiratory complexes from children muscular biopsies. Age-related evolutions.
Biochim Biophys Acta
; 1228(1): 43-50, 1995 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-7857961
16.
An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.
Morphologie
; 89(285): 71-5, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16110742
17.
A novel autosomal dominant leukodystrophy with specific MRI pattern.
J Neurol
; 262(4): 988-91, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683759
18.
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Hum Mutat
; 23(5): 525-6, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15108294
19.
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Eur J Hum Genet
; 8(11): 837-45, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11093273
20.
No alteration in gene expression of components of the ubiquitin-proteasome proteolytic pathway in dystrophin-deficient muscles.
FEBS Lett
; 393(2-3): 292-6, 1996 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-8814307