Ferdinando Squitieri

Educated at: université de Sienne, Université de la Colombie-Britannique

Occupation: chercheur ou chercheuse

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Articles 127

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1993-08

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Shelin Adam, Ferdinando Squitieri
1993-10-01

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects

Ferdinando Squitieri, Shelin Adam
1993-10-01

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent

Ferdinando Squitieri
1994-07-01

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

Ferdinando Squitieri
1995-02-01

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease

Ferdinando Squitieri
1997

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Ferdinando Squitieri
2000-06-01

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

Ferdinando Squitieri, Vittorio Maglione, Maria Gabriella Buzzi, Andrea Novelletto, Milena Cannella, Claudio Colonnese, Riccardo Caruso
2001-02-01

Presymptomatic tests in Huntington's disease and dominant ataxias

Milena Cannella, Ferdinando Squitieri
2001-10-01

Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

Ferdinando Squitieri, Maurizio Pocchiari
2001-03-01

Loss of normal huntingtin function: new developments in Huntington's disease research

Elena Cattaneo, Chiara Zuccato, Ferdinando Squitieri
2001-10-01

Onset and pre-onset studies to define the Huntington's disease natural history

Ferdinando Squitieri, Milena Cannella, Vittorio Maglione, Michael R. Hayden
2002-02-01

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

Ferdinando Squitieri, Milena Cannella, Cornelia M. van Duijn, Ben A Oostra, Peter Heutink, Patrizia Rizzu, Guido J Breedveld
2002-09

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7

Ferdinando Squitieri, Fabrizio Stocchi, Angelo Antonini, Cornelia M. van Duijn, Giovanni Fabbrini, Giuseppe Meco
2002-09-01

CAG mutation effect on rate of progression in Huntington's disease

Ferdinando Squitieri, Milena Cannella
2003-10-01

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

Ferdinando Squitieri, John Van Swieten
2003-01-10

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Cornelia M. van Duijn, Alexis Brice, Ferdinando Squitieri, John Van Swieten, Nicola Vanacore, Peter Heutink, Giuseppe Meco, Vincenzo Bonifati, Ben A Oostra, Marieke Cornelia Johanna Dekker, Patrizia Rizzu, Onno Schaap, Guido J Breedveld
2003-11-17

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

Guy A. Rouleau, Vittorio Maglione, Ferdinando Squitieri, Milena Cannella, Douglas A Marchuk, Christina L Liquori
2003-10-01

Italian Huntington disease patients--data and tissue bank

Ferdinando Squitieri, Milena Cannella, Vittorio Maglione
2003-04-01

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Anne-Catherine Bachoud-Lévi, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Cinzia Gellera, Michael R. Hayden, Martin Delatycki, Caterina Mariotti
2003-09-04

Aberrant A2A receptor function in peripheral blood cells in Huntington's disease

Elena Cattaneo, Maria Pia Abbracchio, Ferdinando Squitieri
2003-09-02

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

Peter Heutink, Vincenzo Bonifati, Ferdinando Squitieri
2003-07-01

Highly disabling cerebellar presentation in Huntington disease

Ferdinando Squitieri, Milena Cannella, Vittorio Maglione
2003-12-01

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene

Michael R. Hayden, Ferdinando Squitieri, Milena Cannella
2004-02-01

The gender effect in juvenile Huntington disease patients of Italian origin

Aldo Quattrone, Ferdinando Squitieri
2005-04-01

Novel parkin mutations detected in patients with early-onset Parkinson's disease

Pasquale Montagna, Cornelia M. van Duijn, Gustavo Maegawa, Ferdinando Squitieri, Fabrizio Stocchi, Angelo Antonini, Nicola Vanacore, Peter Heutink, Giovanni Fabbrini, Giuseppe Meco, Leonardo Lopiano, Vincenzo Bonifati, Ben A Oostra, Aida M Bertoli-Avella, Onno Schaap, Herma C van der Linde
2005-11-07

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Ferdinando Squitieri, Secondo Lastoria
2005-11-10

Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutation

Ferdinando Squitieri
2005-11-09

Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation

Paola Lenzi, Milena Cannella, Vittorio Maglione, Giancarlo Solaini, Ferdinando Squitieri, Francesco Fornai, Carsten Saft
2005-02-01

New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts

Ferdinando Squitieri
2005-10-10

The platelet maximum number of A2A-receptor binding sites (Bmax) linearly correlates with age at onset and CAG repeat expansion in Huntington's disease patients with predominant chorea

Vittorio Maglione, Milena Cannella, Ferdinando Squitieri
2006-07-28

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor

Peter Heutink, Ferdinando Squitieri, Emmanuel N. Pothos
2006-08-17

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

L. Adrienne Cupples, Jian-Liang Li, Ferdinando Squitieri, Jane S Paulsen, Richard H Myers, Michael R. Hayden, Alexandra Durr, James F. Gusella, Tammy Gillis, Christopher A Ross, Marcy E. MacDonald, Steven M Hersch, Marie-Helene Saint-Hilaire, Russell Margolis, Luc Djoussé, Adam E Rosenblatt, Marina Frontali, Estrella Gómez-Tortosa, Andrea Zanko, Ruth K Abramson, Oksana Suchowersky, Madaline B Harrison, Vanessa C Wheeler, Jang Gyu Cha, Karen S. Marder, Mary Lou Klimek, Tetsuo Ashizawa, Jayalakshmi Srinidhi Mysore, Simon C Warby, Ranjana Prakash, Michael M Hakky, Susan Perlman

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Ferdinando Squitieri

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