Detalhe da pesquisa
1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
2.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
3.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 52(10): 1046-1056, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989326
4.
Modulation of CRMP2 via (S)-Lacosamide shows therapeutic promise but is ultimately ineffective in a mouse model of CLN6-Batten disease.
Neuronal Signal
; 3(2): NS20190001, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32269836
5.
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 53(3): 412, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432185
6.
Public views on healthcare performance indicators and patient choice.
J R Soc Med
; 96(7): 338-42, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12835446
7.
A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.
PLoS One
; 8(11): e78694, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24223841
8.
Patient attitudes to clinical trials: development of a questionnaire and results from asthma and cancer patients.
Health Expect
; 8(3): 244-52, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16098154