Literature DB >> 21208036

Proposed criteria for familial amyotrophic lateral sclerosis.

Susan Byrne1, Peter Bede, Marwa Elamin, Kevin Kenna, Catherine Lynch, Russell McLaughlin, Orla Hardiman.   

Abstract

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Year:  2011        PMID： 21208036     DOI： 10.3109/17482968.2010.545420

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN： 1471-180X


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  36 in total

Review 1.  Familial Amyotrophic Lateral Sclerosis.

Authors:  Kevin Boylan
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

Review 2.  The epidemiology of ALS: a conspiracy of genes, environment and time.

Authors:  Ammar Al-Chalabi; Orla Hardiman
Journal:  Nat Rev Neurol       Date:  2013-10-15       Impact factor: 42.937

Review 3.  Clinical neurogenetics: amyotrophic lateral sclerosis.

Authors:  Matthew B Harms; Robert H Baloh
Journal:  Neurol Clin       Date:  2013-11       Impact factor: 3.806

Review 4.  The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.

Authors:  Stacey Li Hi Shing; Mary Clare McKenna; We Fong Siah; Rangariroyashe H Chipika; Orla Hardiman; Peter Bede
Journal:  Brain Imaging Behav       Date:  2021-01-05       Impact factor: 3.978

5.  Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Authors:  Adriano Chiò; Giuseppe Borghero; Gabriella Restagno; Gabriele Mora; Carsten Drepper; Bryan J Traynor; Michael Sendtner; Maura Brunetti; Irene Ossola; Andrea Calvo; Maura Pugliatti; Maria Alessandra Sotgiu; Maria Rita Murru; Maria Giovanna Marrosu; Francesco Marrosu; Kalliopi Marinou; Jessica Mandrioli; Patrizia Sola; Claudia Caponnetto; Gianluigi Mancardi; Paola Mandich; Vincenzo La Bella; Rossella Spataro; Amelia Conte; Maria Rosaria Monsurrò; Gioacchino Tedeschi; Fabrizio Pisano; Ilaria Bartolomei; Fabrizio Salvi; Giuseppe Lauria Pinter; Isabella Simone; Giancarlo Logroscino; Antonio Gambardella; Aldo Quattrone; Christian Lunetta; Paolo Volanti; Marcella Zollino; Silvana Penco; Stefania Battistini; Alan E Renton; Elisa Majounie; Yevgeniya Abramzon; Francesca Luisa Conforti; Fabio Giannini; Massimo Corbo; Mario Sabatelli
Journal:  Brain       Date:  2012-03       Impact factor: 13.501

Review 6.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

Review 7.  Clinical diagnosis and management of amyotrophic lateral sclerosis.

Authors:  Orla Hardiman; Leonard H van den Berg; Matthew C Kiernan
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

8.  Genetic architecture of ALS in Sardinia.

Authors:  Giuseppe Borghero; Maura Pugliatti; Francesco Marrosu; Maria Giovanna Marrosu; Maria Rita Murru; Gianluca Floris; Antonino Cannas; Leslie D Parish; Patrizia Occhineri; Tea B Cau; Daniela Loi; Anna Ticca; Sebastiano Traccis; Umberto Manera; Antonio Canosa; Cristina Moglia; Andrea Calvo; Marco Barberis; Maura Brunetti; Hannah A Pliner; Alan E Renton; Mike A Nalls; Bryan J Traynor; Gabriella Restagno; Adriano Chiò
Journal:  Neurobiol Aging       Date:  2014-07-18       Impact factor: 4.673

9.  De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Authors:  Andrea Calvo; Cristina Moglia; Antonio Canosa; Maura Brunetti; Marco Barberis; Bryan J Traynor; Giovanna Carrara; Consuelo Valentini; Gabriella Restagno; Adriano Chiò
Journal:  Neurobiol Aging       Date:  2013-12-27       Impact factor: 4.673

10.  OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Authors:  Orly Goldstein; Omri Nayshool; Beatrice Nefussy; Bryan J Traynor; Alan E Renton; Mali Gana-Weisz; Vivian E Drory; Avi Orr-Urtreger
Journal:  Neurology       Date:  2016-01-06       Impact factor: 9.910
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