Výsledky vyhledávání - "Camilla D'Eramo"

Peripheral neuropathy in late-onset Krabbe disease: report of three cases

Autor: Alessandro Malandrini, Maria Teresa Dotti, A Kuqo, Gianna Berti, Camilla D'Eramo, S. Gambelli, Patrizia Formichi, Antonio Federico, Silvia Palmeri, Francesco Sicurelli, Carmen Gaudiano

Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee8ad6f966fc4c3717ad3122c750715b
http://hdl.handle.net/11365/20388

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The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL

Autor: Antonio Federico, Camilla D'Eramo, Ilaria Di Donato, Raffaele Maletta, Livia Bernardi, Amalia C. Bruni, Gianfranco Puccio, Silvia Bianchi, Maria Teresa Dotti, Gian Nicola Gallus

CADASIL is the most prominent inherited form of vascular dementia. The main clinical features include migraine with aura, stroke, mood disturbances, and cognitive decline, with a mid-life (30s-60s) adult onset. Genetic testing is the gold standard fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc02b597ab06adca2182d4800896ae8
http://hdl.handle.net/11365/42548

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First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

Autor: Camilla D'Eramo, Silvia Bianchi, Domenico Inzitari, Francesca Pescini, Leonardo Pantoni, Raffaella Valenti, Maria Teresa Dotti

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted small vessel disease clinically characterized by migraine, recurrent subcortical strokes, and cognitive and mood disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b7d483e666c0ba6a2da49d47c546ef2
http://hdl.handle.net/11365/30588

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High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

Autor: Antonio Federico, Enza Zicari, Alessandra Rufa, A. Cappelli, Leonardo Pantoni, Anna Perretti, Camilla D'Eramo, Michele Ragno, Francesca Pescini, M. T. Dotti, Domenico Inzitari, Silvia Bianchi, P. Zolo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac797630904094647f9ac4ad0501bbc
http://hdl.handle.net/11365/19201

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An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Autor: Paolo Galluzzi, Andrew Lee, Maria Teresa Dotti, Silvia Bianchi, J. Raphael Gorospe, Antonio Federico, Daniel Flint, Camilla D'Eramo, Michael Brenner, Sakkubai Naidu, R. Buccoliero

Alexander disease (AxD) (MIM 203450) is a rare progressive neurological disorder caused by mutation of the GFAP gene (2), with variable clinical features (reviewed in 1). The most common infantile form usually presents before 2 years of age as a mega

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b8a3b67336848eb38eb6290cd5f50d
http://hdl.handle.net/11365/19506

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