Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias

Autor: Stephanie Efthymiou (1), Vincenzo Salpietro (1), Marisol Sampedro-Castañeda (1), Andreea Manole (1), Thomas Bourinaris (1, Emer O'Connor (1), Liana Veneziano (3), Elide Mantuano (3), Marina Frontali (3), Paola Giunti (1), Richard Boles (4, 5, Elena Dominguez Garrido (7), Conceicao Bettencourt (1), Juan A. Botia (1), Mina Ryten (1), Jana Vandrovcova (1), Samuel McCall (8), Robyn W. Labrum (8), Sameer Zuberi (9), Alfons Macaya (10), Dimitri M. Kullmann (11), Roope Manniko (1), Henry Houlden (1), Michael G. Hanna (1, 12), SYNAPS Study Group

Publikováno v: IARC 2017-International Ataxia Research Conference, Pisa, Italy, 27-30/09/2017
info:cnr-pdr/source/autori:Stephanie Efthymiou (1), Vincenzo Salpietro (1), Marisol Sampedro-Castañeda (1), Andreea Manole (1), Thomas Bourinaris (1, 2), Emer O'Connor (1), Liana Veneziano (3), Elide Mantuano (3), Marina Frontali (3), Paola Giunti (1), Richard Boles (4,5,6), Elena Dominguez Garrido (7), Conceicao Bettencourt (1), Juan A. Botia (1), Mina Ryten (1), Jana Vandrovcova (1), Samuel McCall (8), Robyn W. Labrum (8), Sameer Zuberi (9), Alfons Macaya (10), Dimitri M. Kullmann (11), Roope Manniko (1), Henry Houlden (1), Michael G. Hanna (1,12), SYNAPS Study Group/congresso_nome:IARC 2017-International Ataxia Research Conference/congresso_luogo:Pisa, Italy/congresso_data:27-30%2F09%2F2017/anno:2017/pagina_da:/pagina_a:/intervallo_pagine

The episodic ataxias are a heterogeneous group of paroxysmal neurological disorders characterized by intermittent attacks of unsteadiness and incoordination, often associated with additional neurological features including migraine or hemiplegic migr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c99875fc1713a59758dd721fa82083c5
https://publications.cnr.it/doc/396501