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Ferdinando Squitieri
Ferdinando Squitieri
IRCCS Casa Sollievo della Sofferenza
在 css-mendel.it 的电子邮件经过验证 - 首页
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Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, ...
Science 299 (5604), 256-259, 2003
34912003
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
SE Andrew, Y Paul Goldberg, B Kremer, H Telenius, J Theilmann, ...
Nature genetics 4 (4), 398-403, 1993
14831993
A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats
B Kremer, P Goldberg, SE Andrew, J Theilmann, H Telenius, J Zeisler, ...
New England Journal of Medicine 330 (20), 1401-1406, 1994
8001994
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
V Bonifati, P Rizzu, F Squitieri, E Krieger, N Vanacore, JC Van Swieten, ...
Neurological sciences 24, 159-160, 2003
5632003
Loss of normal huntingtin function: new developments in Huntington's disease research
E Cattaneo, D Rigamonti, D Goffredo, C Zuccato, F Squitieri, S Sipione
Trends in neurosciences 24 (3), 182-188, 2001
5002001
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A Di Fonzo, HF Chien, M Socal, S Giraudo, C Tassorelli, G Iliceto, ...
Neurology 68 (19), 1557-1562, 2007
4542007
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
4332012
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations
CL Liquori, MJ Berg, AM Siegel, E Huang, JS Zawistowski, D Verlaan, ...
The American Journal of Human Genetics 73 (6), 1459-1464, 2003
3742003
Polyglutamine tracts regulate beclin 1-dependent autophagy
A Ashkenazi, CF Bento, T Ricketts, M Vicinanza, F Siddiqi, M Pavel, ...
Nature 545 (7652), 108-111, 2017
3502017
Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease
A Ciarmiello, M Cannella, S Lastoria, M Simonelli, L Frati, DC Rubinsztein, ...
Journal of Nuclear Medicine 47 (2), 215-222, 2006
3352006
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
YP Goldberg, B Kremer, SE Andrew, J Theilmann, RK Graham, F Squitieri, ...
Nature genetics 5 (2), 174-179, 1993
3101993
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ...
The Lancet Neurology 16 (9), 701-711, 2017
3092017
Impaired PGC-1α function in muscle in Huntington's disease
RK Chaturvedi, P Adhihetty, S Shukla, T Hennessy, N Calingasan, L Yang, ...
Human molecular genetics 18 (16), 3048-3065, 2009
2822009
Observing Huntington's disease: the European Huntington's disease network's REGISTRY
M Orth, European Huntington's Disease Network
Journal of Neurology, Neurosurgery & Psychiatry 82 (12), 1409-1412, 2011
2802011
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
F Squitieri, C Gellera, M Cannella, C Mariotti, G Cislaghi, DC Rubinsztein, ...
Brain 126 (4), 946-955, 2003
2782003
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor
N Zhong, CY Kim, P Rizzu, C Geula, DR Porter, EN Pothos, F Squitieri, ...
Journal of Biological Chemistry 281 (30), 20940-20948, 2006
2352006
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
F Squitieri, SE Andrew, YP Goldberg, B Kremer, N Spence, J Zelsler, ...
Human molecular genetics 3 (12), 2103-2114, 1994
2351994
Suicide risk in Huntington's disease.
L Di Maio, F Squitieri, G Napolitano, G Campanella, JA Trofatter, ...
Journal of medical genetics 30 (4), 293-295, 1993
2171993
Recommendations for the predictive genetic test in Huntington's disease
R MacLeod, A Tibben, M Frontali, G Evers‐Kiebooms, A Jones, ...
Clinical genetics 83 (3), 221-231, 2013
2162013
Low brain‐derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients
A Ciammola, J Sassone, M Cannella, S Calza, B Poletti, L Frati, F Squitieri, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007
2032007
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