Detalhe da pesquisa
1.
Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case report.
Neurocase
; 26(1): 36-41, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771445
2.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord
; 36(4): 1034-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543803
3.
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Neurol Genet
; 9(6): e200096, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38235039
4.
Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases.
Brain Pathol
; 33(3): e13138, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36536531
5.
Evidence of mosaicism in SPAST variant carriers in four French families.
Eur J Hum Genet
; 29(7): 1158-1163, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958741
6.
International Guidelines for the Treatment of Huntington's Disease.
Front Neurol
; 10: 710, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31333565