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L

L. Calandriello

Researcher at Sapienza University of Rome

Publications -  7
Citations -  407

L. Calandriello is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: CADASIL & Ataxia. The author has an hindex of 4, co-authored 6 publications receiving 397 citations.

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Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

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.
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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

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.
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Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13

TL;DR: The genetic analysis showed strong linkage between the disease and the 19p13 microsatellite markers in a region which widely overlaps that previously reported and set a new distal boundary of the gene-containing region.
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Serum mitogenic activity on in vitro glial cells in Neurofibromatosis type 1

TL;DR: The results suggest that the phenotype expression of NF1 might depend not only on the NF1 mutations per se, but also on other genetic or epigenetic factors, such as serum glial proliferating molecules.