Giuseppe De Michele
Giuseppe De Michele
Università degli Studi di Napoli "Federico II"
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
Association between early-onset Parkinson's disease and mutations in the parkin gene
CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ...
New England Journal of Medicine 342 (21), 1560-1567, 2000
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ...
Cell 93 (6), 973-983, 1998
A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe
N Abbas, CB Lücking, S Ricard, A Dürr, V Bonifati, G De Michele, ...
Human molecular genetics 8 (4), 567-574, 1999
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, ...
American journal of human genetics 59 (3), 554, 1996
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
How much phenotypic variation can be attributed to parkin genotype?
E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ...
Annals of neurology 54 (2), 176-185, 2003
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
M Periquet, M Latouche, E Lohmann, N Rawal, G De Michele, S Ricard, ...
Brain 126 (6), 1271-1278, 2003
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ...
Neurology 78 (10), 690-695, 2012
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles
L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, ...
Human molecular genetics 6 (8), 1261-1266, 1997
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism
CB Lucking
Lancet 352, 1355-1356, 1998
Environmental and genetic risk factors in Parkinson's disease: a case–control study in southern Italy
G De Michele, A Filla, G Volpe, V De Marco, A Gogliettino, G Ambrosio, ...
Movement disorders: official journal of the Movement Disorder Society 11 (1 …, 1996
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
P Ibánez, S Lesage, E Lohmann, S Thobois, GD Michele, M Borg, Y Agid, ...
Brain 129 (3), 686-694, 2006
PARK6‐linked parkinsonism occurs in several European families
EM Valente, F Brancati, A Ferraris, EA Graham, MB Davis, MMB Breteler, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects
M Periquet, CB Lücking, JR Vaughan, V Bonifati, A Dürr, G De Michele, ...
The American Journal of Human Genetics 68 (3), 617-626, 2001
Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features
MT Pellecchia, R Scala, A Filla, G De Michele, C Ciacci, P Barone
Journal of Neurology, Neurosurgery & Psychiatry 66 (1), 32-35, 1999
Epidemiology of cholelithiasis in southern Italy. Part II: Risk factors.
G Misciagna, C Leoci, V Guerra, M Chiloiro, S Elba, J Petruzzi, A Mossa, ...
European journal of gastroenterology & hepatology 8 (6), 585-593, 1996
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24. 3
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, ...
The American Journal of Human Genetics 63 (1), 135-139, 1998
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
G De Michele, A Filla, F Cavalcanti, L Di Maio, L Pianese, I Castaldo, ...
Journal of Neurology, Neurosurgery & Psychiatry 57 (8), 977-979, 1994
The heterogeneity of early Parkinson’s disease: a cluster analysis on newly diagnosed untreated patients
R Erro, C Vitale, M Amboni, M Picillo, M Moccia, K Longo, G Santangelo, ...
PloS one 8 (8), 2013
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