Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Neurol Genet
; 4(2): e222, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582019