Detalhe da pesquisa
1.
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Eur J Neurol
; 27(6): 909-927, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196841
2.
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Eur J Neurol
; 27(3): 498-505, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571321
3.
The Working Life of People with Degenerative Cerebellar Ataxia.
Cerebellum
; 18(5): 910-921, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468336
4.
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Eur J Neurol
; 26(1): 80-86, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30098094
5.
SPG5 and multiple sclerosis: clinical and genetic overlap?
Acta Neurol Scand
; 133(6): 410-4, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26370385
6.
Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.
Cerebellum
; 12(3): 418-28, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23090211
7.
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Eur J Neurol
; 18(9): 1187-90, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410841
8.
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science
; 271(5254): 1423-7, 1996 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-8596916
9.
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
J Med Genet
; 45(12): 808-12, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18697824
10.
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.
Eur J Neurol
; 20(4): e60, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23490117
11.
Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: a cardiovascular neurophysiologic study.
J Neurol Sci
; 275(1-2): 60-3, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18755482
12.
Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
Can J Neurol Sci
; 33(2): 237-9, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16736738
13.
PRICKLE1 progressive myoclonus epilepsy in Southern Italy.
Mov Disord
; 25(15): 2686-7, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20842693
14.
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study.
Brain
; 127(Pt 8): 1785-95, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15240431
15.
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
J Med Genet
; 41(12): 900-7, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15591275
16.
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J Neurol
; 262(12): 2755-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530509
17.
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
Eur J Hum Genet
; 1(2): 133-43, 1993.
Artigo
em Inglês
| MEDLINE | ID: mdl-7914465
18.
Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.
Neurology
; 47(5): 1260-4, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8909440
19.
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.
Neurology
; 58(6): 922-8, 2002 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-11914409
20.
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.
Neurology
; 54(2): 496-9, 2000 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-10668723