Detalhe da pesquisa
1.
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
J Med Genet
; 60(4): 346-351, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270767
2.
A liminal stage after predictive testing for Huntington disease.
J Med Genet
; 54(8): 511-520, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087720
3.
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
J Inherit Metab Dis
; 38(3): 573-80, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388549
4.
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.
Brain
; 135(Pt 2): 483-92, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22240777
5.
Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades.
Eur J Hum Genet
; 29(4): 672-679, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299145
6.
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Neurol Genet
; 7(1): e538, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376800
7.
Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.
Eur J Hum Genet
; 27(1): 22-27, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206353
8.
[Ethics and therapeutic innovation]. / Éthique et innovation thérapeutique.
Med Sci (Paris)
; 35 Hors série n° 1: 46-50, 2019 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-30943164