Detalhe da pesquisa
1.
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Hum Mol Genet
; 31(22): 3897-3913, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35766882
2.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
3.
Early recognition of SGCE-myoclonus-dystonia in children.
Dev Med Child Neurol
; 65(2): 207-214, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723607
4.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
5.
Genetic diagnosis of basal ganglia disease in childhood.
Dev Med Child Neurol
; 64(6): 743-752, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988976
6.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
7.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord
; 36(6): 1342-1352, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200489
8.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
9.
Expanding the ß-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Int J Mol Sci
; 22(5)2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801522
10.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
11.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
12.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
J Med Genet
; 56(4): 236-245, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464053
13.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Mol Genet Metab
; 126(3): 250-258, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30642748
14.
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
J Inherit Metab Dis
; 42(4): 581-597, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31095747
15.
The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
Clin Trials
; 16(4): 410-418, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31055958
16.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Hum Mutat
; 39(12): 1752-1763, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30176098
17.
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ann Neurol
; 82(3): 317-330, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856750
18.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Mov Disord
; 33(3): 482-488, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392776
19.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics
; 49(6): 408-413, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304743
20.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Int J Mol Sci
; 19(2)2018 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470411