Detalhe da pesquisa
1.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Brain
; 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38884572
2.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
3.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain
; 145(11): 3770-3775, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883251
4.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
5.
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Hum Mutat
; 37(12): 1340-1353, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27528516
6.
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Hum Mutat
; 35(10): 1179-86, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24944099
7.
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
Mol Vis
; 20: 1398-410, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352746
8.
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Hum Mutat
; 33(1): 104-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22009552
9.
Non-USH2A mutations in USH2 patients.
Hum Mutat
; 33(3): 504-10, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22147658
10.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
J Neurol
; 268(5): 1927-1937, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417001
11.
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
J Neurol
; 268(9): 3337-3343, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666721
12.
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Hum Mutat
; 31(6): 734-41, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513143
13.
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Hum Mutat
; 31(3): 347-55, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052763
14.
ATP8A2-related disorders as recessive cerebellar ataxia.
J Neurol
; 267(1): 203-213, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612321
15.
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Hum Mutat
; 29(8): E76-87, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484607
16.
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Hum Mutat
; 28(8): 781-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17405132
17.
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.
J Cyst Fibros
; 15(3): 309-12, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117206
18.
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Eur J Hum Genet
; 24(8): 1154-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26669662
19.
Experience of targeted Usher exome sequencing as a clinical test.
Mol Genet Genomic Med
; 2(1): 30-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498627
20.
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Neurol Genet
; 4(2): e225, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564393