Detalhe da pesquisa
1.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
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.
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
4.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
5.
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Brain
; 144(8): 2443-2456, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734312
6.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299146
7.
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
8.
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
9.
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
10.
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
11.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
12.
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Am J Hum Genet
; 94(1): 87-94, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239382
13.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686260
14.
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
BMC Med Genet
; 17(1): 82, 2016 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27852232
15.
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Pract Neurol
; 16(3): 247-51, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26786006
16.
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Am J Hum Genet
; 91(6): 1103-7, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23141292
17.
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
Mov Disord
; 34(7): 1079-1080, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034681
18.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678163
19.
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Cells
; 12(7)2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37048120
20.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology
; 100(21): e2214-e2223, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041080