Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
3.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
4.
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Brain
; 144(9): 2610-2615, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33871597
5.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
6.
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Mov Disord
; 36(5): 1104-1114, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33934385
7.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
8.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
9.
Recent genetic advances in early-onset dystonia.
Curr Opin Neurol
; 33(4): 500-507, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657892
10.
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Am J Med Genet A
; 182(9): 2129-2132, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627382
11.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
12.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
J Peripher Nerv Syst
; 25(2): 117-124, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32096284
13.
Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.
Dev Med Child Neurol
; 61(8): 964-971, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663041
14.
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Mov Disord
; 38(1): 155-157, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273396
15.
Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome.
Epilepsy Behav
; 88: 1-4, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30195931
16.
Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".
Ann Neurol
; 89(3): 626, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305837
17.
Dravet syndrome and its mimics: Beyond SCN1A.
Epilepsia
; 58(11): 1807-1816, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28880996
18.
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Mov Disord
; 36(8): 1984-1985, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998058
19.
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Mov Disord
; 36(6): 1472-1473, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145635
20.
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
Mov Disord
; 35(2): 372-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922275