Literature DB >> 26515623

Familial Amyotrophic Lateral Sclerosis.

Kevin Boylan1.   

Abstract

Genes linked to amyotrophic lateral sclerosis (ALS) susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis seem to exert major effects in about 10% of patients, but genetic factors at some level may be important components of disease risk in most patients with ALS. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ALS; Amyotrophic lateral sclerosis; Familial ALS; Genetic testing; Genetics; Phenotypes

Mesh:

Substances:

Year:  2015        PMID: 26515623      PMCID: PMC4670044          DOI: 10.1016/j.ncl.2015.07.001

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  175 in total

1.  I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families.

Authors:  Josep Gamez; Claudia Caponnetto; Loretta Ferrera; Enrique Syriani; Valeria Marini; Miguel Morales; Domenico Bordo; Cristina Pirro; Cecilia Garre; Paola Origone
Journal:  Amyotroph Lateral Scler       Date:  2010-06-02

2.  Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

Authors:  Christoph Münch; Arndt Rolfs; Thomas Meyer
Journal:  Amyotroph Lateral Scler       Date:  2008-08

3.  Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.

Authors:  Clotilde Lagier-Tourenne; Michael Baughn; Frank Rigo; Shuying Sun; Patrick Liu; Hai-Ri Li; Jie Jiang; Andrew T Watt; Seung Chun; Melanie Katz; Jinsong Qiu; Ying Sun; Shuo-Chien Ling; Qiang Zhu; Magdalini Polymenidou; Kevin Drenner; Jonathan W Artates; Melissa McAlonis-Downes; Sebastian Markmiller; Kasey R Hutt; Donald P Pizzo; Janet Cady; Matthew B Harms; Robert H Baloh; Scott R Vandenberg; Gene W Yeo; Xiang-Dong Fu; C Frank Bennett; Don W Cleveland; John Ravits
Journal:  Proc Natl Acad Sci U S A       Date:  2013-10-29       Impact factor: 11.205

Review 4.  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

5.  Cognitive change in ALS: a prospective study.

Authors:  S Abrahams; P N Leigh; L H Goldstein
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910

6.  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

7.  ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.

Authors:  Michael A van Es; Paul W Van Vught; Hylke M Blauw; Lude Franke; Christiaan G Saris; Peter M Andersen; Ludo Van Den Bosch; Sonja W de Jong; Ruben van 't Slot; Anna Birve; Robin Lemmens; Vianney de Jong; Frank Baas; Helenius J Schelhaas; Kristel Sleegers; Christine Van Broeckhoven; John H J Wokke; Cisca Wijmenga; Wim Robberecht; Jan H Veldink; Roel A Ophoff; Leonard H van den Berg
Journal:  Lancet Neurol       Date:  2007-10       Impact factor: 44.182

Review 8.  C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Jonathan D Rohrer; Adrian M Isaacs; Sarah Mizielinska; Simon Mead; Tammaryn Lashley; Selina Wray; Katie Sidle; Pietro Fratta; Richard W Orrell; John Hardy; Janice Holton; Tamas Revesz; Martin N Rossor; Jason D Warren
Journal:  Lancet Neurol       Date:  2015-01-29       Impact factor: 44.182

9.  Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.

Authors:  Bradley F Boeve; Kevin B Boylan; Neill R Graff-Radford; Mariely DeJesus-Hernandez; David S Knopman; Otto Pedraza; Prashanthi Vemuri; David Jones; Val Lowe; Melissa E Murray; Dennis W Dickson; Keith A Josephs; Beth K Rush; Mary M Machulda; Julie A Fields; Tanis J Ferman; Matthew Baker; Nicola J Rutherford; Jennifer Adamson; Zbigniew K Wszolek; Anahita Adeli; Rodolfo Savica; Brendon Boot; Karen M Kuntz; Ralitza Gavrilova; Andrew Reeves; Jennifer Whitwell; Kejal Kantarci; Clifford R Jack; Joseph E Parisi; John A Lucas; Ronald C Petersen; Rosa Rademakers
Journal:  Brain       Date:  2012-03       Impact factor: 13.501

10.  MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.

Authors:  Pu Fang; Wenyuan Xu; Chengsi Wu; Min Zhu; Xiaobing Li; Daojun Hong
Journal:  Neural Regen Res       Date:  2013-11-25       Impact factor: 5.135

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  33 in total

1.  Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Authors:  Kathryn H Morelli; Laurie B Griffin; Nettie K Pyne; Lindsay M Wallace; Allison M Fowler; Stephanie N Oprescu; Ryuichi Takase; Na Wei; Rebecca Meyer-Schuman; Dattatreya Mellacheruvu; Jacob O Kitzman; Samuel G Kocen; Timothy J Hines; Emily L Spaulding; James R Lupski; Alexey Nesvizhskii; Pedro Mancias; Ian J Butler; Xiang-Lei Yang; Ya-Ming Hou; Anthony Antonellis; Scott Q Harper; Robert W Burgess
Journal:  J Clin Invest       Date:  2019-12-02       Impact factor: 14.808

2.  Integrative Profiling of Amyotrophic Lateral Sclerosis Lymphoblasts Identifies Unique Metabolic and Mitochondrial Disease Fingerprints.

Authors:  Teresa Cunha-Oliveira; Marcelo Carvalho; Vilma Sardão; Elisabete Ferreiro; Débora Mena; Francisco B Pereira; Fernanda Borges; Paulo J Oliveira; Filomena S G Silva
Journal:  Mol Neurobiol       Date:  2022-08-06       Impact factor: 5.682

3.  Site-specific mitochondrial dysfunction in neurodegeneration.

Authors:  Anežka Vodičková; Shon A Koren; Andrew P Wojtovich
Journal:  Mitochondrion       Date:  2022-02-16       Impact factor: 4.534

4.  Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms.

Authors:  Claudia Figueroa-Romero; Junguk Hur; J Simon Lunn; Ximena Paez-Colasante; Diane E Bender; Raymond Yung; Stacey A Sakowski; Eva L Feldman
Journal:  Mol Cell Neurosci       Date:  2015-12-17       Impact factor: 4.314

5.  Nicotinic receptor activation contrasts pathophysiological bursting and neurodegeneration evoked by glutamate uptake block on rat hypoglossal motoneurons.

Authors:  Silvia Corsini; Maria Tortora; Andrea Nistri
Journal:  J Physiol       Date:  2016-08-03       Impact factor: 5.182

Review 6.  Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis.

Authors:  S Bräuer; V Zimyanin; A Hermann
Journal:  J Neural Transm (Vienna)       Date:  2018-02-08       Impact factor: 3.575

Review 7.  Importance of lipids for upper motor neuron health and disease.

Authors:  Aksu Gunay; Heather H Shin; Oge Gozutok; Mukesh Gautam; P Hande Ozdinler
Journal:  Semin Cell Dev Biol       Date:  2020-12-13       Impact factor: 7.727

Review 8.  iPSCs: A Preclinical Drug Research Tool for Neurological Disorders.

Authors:  Gabriele Bonaventura; Rosario Iemmolo; Giuseppe Antonino Attaguile; Valentina La Cognata; Brigida Sabrina Pistone; Giuseppe Raudino; Velia D'Agata; Giuseppina Cantarella; Maria Luisa Barcellona; Sebastiano Cavallaro
Journal:  Int J Mol Sci       Date:  2021-04-27       Impact factor: 5.923

Review 9.  Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.

Authors:  Matthew E R Butchbach
Journal:  Front Mol Biosci       Date:  2016-03-10

Review 10.  Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Authors:  Hong-Fu Li; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2016-02-03       Impact factor: 8.014

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