Literature DB >> 25201239

Motor neuron disease: Common genetic variants and the heritability of ALS.

Ammar Al-Chalabi1, Peter M Visscher2.   

Abstract

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Year:  2014        PMID： 25201239     DOI： 10.1038/nrneurol.2014.166

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  10 in total

1.  GCTA: a tool for genome-wide complex trait analysis.

Authors:  Jian Yang; S Hong Lee; Michael E Goddard; Peter M Visscher
Journal:  Am J Hum Genet       Date:  2010-12-17       Impact factor: 11.025

2.  Proposed criteria for familial amyotrophic lateral sclerosis.

Authors:  Susan Byrne; Peter Bede; Marwa Elamin; Kevin Kenna; Catherine Lynch; Russell McLaughlin; Orla Hardiman
Journal:  Amyotroph Lateral Scler       Date:  2011-01-05

3.  Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Authors:  Marka van Blitterswijk; Michael A van Es; Eric A M Hennekam; Dennis Dooijes; Wouter van Rheenen; Jelena Medic; Pierre R Bourque; Helenius J Schelhaas; Anneke J van der Kooi; Marianne de Visser; Paul I W de Bakker; Jan H Veldink; Leonard H van den Berg
Journal:  Hum Mol Genet       Date:  2012-05-29       Impact factor: 6.150

4.  Genome-wide analysis of the heritability of amyotrophic lateral sclerosis.

Authors:  Margaux F Keller; Luigi Ferrucci; Andrew B Singleton; Pentti J Tienari; Hannu Laaksovirta; Gabriella Restagno; Adriano Chiò; Bryan J Traynor; Michael A Nalls
Journal:  JAMA Neurol       Date:  2014-09       Impact factor: 18.302

5.  Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

Authors:  Ammar Al-Chalabi; Cathryn M Lewis
Journal:  Hum Hered       Date:  2011-08-12       Impact factor: 0.444

6.  Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

Authors:  P M Andersen; P Nilsson; V Ala-Hurula; M L Keränen; I Tarvainen; T Haltia; L Nilsson; M Binzer; L Forsgren; S L Marklund
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

7.  An estimate of amyotrophic lateral sclerosis heritability using twin data.

Authors:  A Al-Chalabi; F Fang; M F Hanby; P N Leigh; C E Shaw; W Ye; F Rijsdijk
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-09-22       Impact factor: 13.654

8.  A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Authors:  Isabella Fogh; Antonia Ratti; Cinzia Gellera; Kuang Lin; Cinzia Tiloca; Valentina Moskvina; Lucia Corrado; Gianni Sorarù; Cristina Cereda; Stefania Corti; Davide Gentilini; Daniela Calini; Barbara Castellotti; Letizia Mazzini; Giorgia Querin; Stella Gagliardi; Roberto Del Bo; Francesca L Conforti; Gabriele Siciliano; Maurizio Inghilleri; Francesco Saccà; Paolo Bongioanni; Silvana Penco; Massimo Corbo; Sandro Sorbi; Massimiliano Filosto; Alessandra Ferlini; Anna M Di Blasio; Stefano Signorini; Aleksey Shatunov; Ashley Jones; Pamela J Shaw; Karen E Morrison; Anne E Farmer; Philip Van Damme; Wim Robberecht; Adriano Chiò; Bryan J Traynor; Michael Sendtner; Judith Melki; Vincent Meininger; Orla Hardiman; Peter M Andersen; Nigel P Leigh; Jonathan D Glass; Daniel Overste; Frank P Diekstra; Jan H Veldink; Michael A van Es; Christopher E Shaw; Michael E Weale; Cathryn M Lewis; Julie Williams; Robert H Brown; John E Landers; Nicola Ticozzi; Mauro Ceroni; Elena Pegoraro; Giacomo P Comi; Sandra D'Alfonso; Leonard H van den Berg; Franco Taroni; Ammar Al-Chalabi; John Powell; Vincenzo Silani
Journal:  Hum Mol Genet       Date:  2013-11-20       Impact factor: 6.150

9.  The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry.

Authors:  Thomas S Wingo; David J Cutler; Nicole Yarab; Crystal M Kelly; Jonathan D Glass
Journal:  PLoS One       Date:  2011-11-22       Impact factor: 3.240

10.  The risk to relatives of patients with sporadic amyotrophic lateral sclerosis.

Authors:  Martha F Hanby; Kirsten M Scott; William Scotton; Lokesh Wijesekera; Thomas Mole; Catherine E Ellis; P Nigel Leigh; Christopher E Shaw; Ammar Al-Chalabi
Journal:  Brain       Date:  2011-09-20       Impact factor: 13.501
  10 in total
  8 in total

Review 1.  ALS: Recent Developments from Genetics Studies.

Authors:  Martine Therrien; Patrick A Dion; Guy A Rouleau
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

2.  Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.

Authors:  Paul E Young; Stephen Kum Jew; Michael E Buckland; Roger Pamphlett; Catherine M Suter
Journal:  PLoS One       Date:  2017-08-10       Impact factor: 3.240

3.  Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Authors:  Shuxian Lu; Zhaojie Lyu; Zhihao Wang; Yao Kou; Cong Liu; Shengyue Li; Mengyan Hu; Hongjie Zhu; Wenxing Wang; Ce Zhang; Yung-Shu Kuan; Yi-Wen Liu; Jianming Chen; Jing Tian
Journal:  Theranostics       Date:  2021-01-01       Impact factor: 11.556

4.  A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression.

Authors:  Jack N G Marshall; Alexander Fröhlich; Li Li; Abigail L Pfaff; Ben Middlehurst; Thomas P Spargo; Alfredo Iacoangeli; Bing Lang; Ammar Al-Chalabi; Sulev Koks; Vivien J Bubb; John P Quinn
Journal:  Front Mol Neurosci       Date:  2022-09-05       Impact factor: 6.261

Review 5.  Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

Authors:  Bradley Roberts; Frances Theunissen; Francis L Mastaglia; P Anthony Akkari; Loren L Flynn
Journal:  Int J Mol Sci       Date:  2022-08-19       Impact factor: 6.208

6.  Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.

Authors:  Claudia Malacarne; Mariarita Galbiati; Eleonora Giagnorio; Paola Cavalcante; Franco Salerno; Francesca Andreetta; Cinza Cagnoli; Michela Taiana; Monica Nizzardo; Stefania Corti; Viviana Pensato; Anna Venerando; Cinzia Gellera; Silvia Fenu; Davide Pareyson; Riccardo Masson; Lorenzo Maggi; Eleonora Dalla Bella; Giuseppe Lauria; Renato Mantegazza; Pia Bernasconi; Angelo Poletti; Silvia Bonanno; Stefania Marcuzzo
Journal:  Int J Mol Sci       Date:  2021-05-26       Impact factor: 5.923

Review 7.  Taking Control of Castleman Disease: Leveraging Precision Medicine Technologies to Accelerate Rare Disease Research.

Authors:  Samantha Kass Newman; Raj K Jayanthan; Grant W Mitchell; Jossie A Carreras Tartak; Michael P Croglio; Alexander Suarez; Amy Y Liu; Beatrice M Razzo; Enny Oyeniran; Jason R Ruth; David C Fajgenbaum
Journal:  Yale J Biol Med       Date:  2015-11-24

8.  Structural Variants May Be a Source of Missing Heritability in sALS.

Authors:  Frances Theunissen; Loren L Flynn; Ryan S Anderton; Frank Mastaglia; Julia Pytte; Leanne Jiang; Stuart Hodgetts; Daniel K Burns; Ann Saunders; Sue Fletcher; Steve D Wilton; Patrick Anthony Akkari
Journal:  Front Neurosci       Date:  2020-01-31       Impact factor: 4.677
  8 in total

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