Detalhe da pesquisa
1.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
2.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
4.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
BMC Neurol
; 22(1): 53, 2022 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151251
5.
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Neuropediatrics
; 51(4): 245-250, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143220
6.
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
J Clin Invest
; 132(8)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230976
7.
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
Eur J Med Genet
; 64(4): 104188, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667650
8.
Evidence of mosaicism in SPAST variant carriers in four French families.
Eur J Hum Genet
; 29(7): 1158-1163, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958741
9.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Eur J Paediatr Neurol
; 33: 75-85, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102571
10.
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Mol Genet Genomic Med
; 8(9): e1388, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588540
11.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Arthritis Rheumatol
; 72(10): 1689-1693, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510848
12.
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
Eur J Med Genet
; 62(6): 103530, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30142438