Detalhe da pesquisa
1.
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.
Neurobiol Dis
; 46(1): 41-51, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405424
2.
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
J Neurol
; 254(11): 1538-46, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17934876
3.
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Arch Neurol
; 61(5): 727-33, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15148151
4.
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.
Neurobiol Aging
; 33(8): 1847.e15-21, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22425256
5.
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Neurobiol Aging
; 33(3): 630.e1-2, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22137929