G
G. Sabbadini
Researcher at Sapienza University of Rome
Publications - 11
Citations - 672
G. Sabbadini is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: Trinucleotide repeat expansion & Autosomal dominant cerebellar ataxia. The author has an hindex of 10, co-authored 11 publications receiving 657 citations.
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Journal ArticleDOI
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
Carla Jodice,Elide Mantuano,Liana Veneziano,Flavia Trettel,G. Sabbadini,L. Calandriello,Ada Francia,Maria Spadaro,Francesco Pierelli,Fabrizio Salvi,Roel A. Ophoff,Rune R. Frants,Marina Frontali +12 more
TL;DR: The results show that EA2 and SCA6 are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggest that the small CAG expansions may not be as stable as previously reported.
Journal ArticleDOI
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
Paola Giunti,G. Sabbadini,MG Sweeney,Mb Davis,Liana Veneziano,Elide Mantuano,Antonio Federico,R Plasmati,Marina Frontali,Nw Wood +9 more
TL;DR: The identification of the SCA2 mutation in 31 out of 38 families with the ADCA I phenotype, but in none of those with ADCA II, ADCA III or ILOCA confirms the specificity of this mutation, highlights significant differences between groups.
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)Clinical, neuroimaging, pathological and genetic study of a large Italian family
G. Sabbadini,Ada Francia,L. Calandriello,C. Di Biasi,G. Trasimeni,G. F. Gualdi,Guido Palladini,M. Manfredi,Marina Frontali +8 more
TL;DR: A joint analysis of genotypic and phenotypic data shows that diffuse leucoencephalopathy is a reliable sign of the disease in otherwise normal 50%-risk subjects over the age 30 years and that penetrance of stroke episodes or dementia is most likely complete around age 60 years.
Journal ArticleDOI
Family and molecular data for a fine analysis of age at onset in Huntington disease.
F Squitieri,G. Sabbadini,Paola Mandich,Cinzia Gellera,E Di Maria,Emilia Bellone,Barbara Castellotti,E. Nargi,U. De Grazia,Marina Frontali,Andrea Novelletto +10 more
TL;DR: The data argue in favor of a greater similarity across the same generation than across successive generations, and an excess of parents with later than expected age of onset was observed, paralleled by a CAG-independent anticipation of onset in parent-child transmissions.
Journal ArticleDOI
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
Andrea Novelletto,Francesca Persichetti,G. Sabbadini,Paola Mandich,Emilia Bellone,Franco Ajmar,F Squitieri,G. Campanella,A Bozza,Marcy E. MacDonald,James F. Gusella,Marina Frontali +11 more
TL;DR: The finding, among normal subjects, of carriers of variants on both chromosomes denotes that variation at either of the two polymorphisms does not impair the function of the huntingtin gene product.