Výsledky vyhledávání - "Silvia Paverelli"

The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families

Autor: Ikram Sghaier, Imen Kacem, Nicola Ticozzi, Saloua Mrabet, Silvia Paverelli, Youssef Abida, Antonia Ratti, Vincenzo Silani, Riadh Gouider

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f793b9e001db848215c334cecaecdeb9
https://hdl.handle.net/2434/938661

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Expanding the phenotype ofiTARDBP/imutation in a Tunisian family with clinical phenotype heterogeneity

Autor: Imen Kacem, Ikram Sghaier, Nicola Ticozzi, Saloua Mrabet, Silvia Paverelli, Amina Nasri, Antonia Ratti, Mouna Ben Djebara, Amina Gargouri-Berrachid, Vincenzo Silani, Riadh Gouider

Publikováno v: Amyotrophic lateral sclerosisfrontotemporal degeneration. 23(7-8)

We describe a Tunisian family carrier of the same rare mutation iniTARDBP/ibut developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049e30e816a5b428686965d3ba0a40d0
https://pubmed.ncbi.nlm.nih.gov/35793404

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