Literature DB >> 25919956

Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

Conceição Bettencourt1, Henry Houlden1.   

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Year:  2015        PMID: 25919956     DOI: 10.1038/nn.4012

Source DB:  PubMed          Journal:  Nat Neurosci        ISSN: 1097-6256            Impact factor:   24.884


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  14 in total

Review 1.  Amyotrophic lateral sclerosis: an update on recent genetic insights.

Authors:  Yohei Iguchi; Masahisa Katsuno; Kensuke Ikenaka; Shinsuke Ishigaki; Gen Sobue
Journal:  J Neurol       Date:  2013-10-02       Impact factor: 4.849

2.  Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Authors:  Sarah Morgan; Maryam Shoai; Pietro Fratta; Katie Sidle; Richard Orrell; Mary G Sweeney; Aleksey Shatunov; William Sproviero; Ashley Jones; Ammar Al-Chalabi; Andrea Malaspina; Henry Houlden; John Hardy; Alan Pittman
Journal:  Neurobiol Aging       Date:  2014-12-20       Impact factor: 4.673

Review 3.  Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies.

Authors:  Steve Vucic; Jeffrey D Rothstein; Matthew C Kiernan
Journal:  Trends Neurosci       Date:  2014-06-11       Impact factor: 13.837

Review 4.  Dissection of genetic factors associated with amyotrophic lateral sclerosis.

Authors:  Claire S Leblond; Hannah M Kaneb; Patrick A Dion; Guy A Rouleau
Journal:  Exp Neurol       Date:  2014-04-26       Impact factor: 5.330

5.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

6.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

7.  Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Authors:  Axel Freischmidt; Thomas Wieland; Benjamin Richter; Wolfgang Ruf; Veronique Schaeffer; Kathrin Müller; Nicolai Marroquin; Frida Nordin; Annemarie Hübers; Patrick Weydt; Susana Pinto; Rayomond Press; Stéphanie Millecamps; Nicolas Molko; Emilien Bernard; Claude Desnuelle; Marie-Hélène Soriani; Johannes Dorst; Elisabeth Graf; Ulrika Nordström; Marisa S Feiler; Stefan Putz; Tobias M Boeckers; Thomas Meyer; Andrea S Winkler; Juliane Winkelman; Mamede de Carvalho; Dietmar R Thal; Markus Otto; Thomas Brännström; Alexander E Volk; Petri Kursula; Karin M Danzer; Peter Lichtner; Ivan Dikic; Thomas Meitinger; Albert C Ludolph; Tim M Strom; Peter M Andersen; Jochen H Weishaupt
Journal:  Nat Neurosci       Date:  2015-03-24       Impact factor: 24.884

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.  A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

Authors:  Sylvie Bannwarth; Samira Ait-El-Mkadem; Annabelle Chaussenot; Emmanuelle C Genin; Sandra Lacas-Gervais; Konstantina Fragaki; Laetitia Berg-Alonso; Yusuke Kageyama; Valérie Serre; David G Moore; Annie Verschueren; Cécile Rouzier; Isabelle Le Ber; Gaëlle Augé; Charlotte Cochaud; Françoise Lespinasse; Karine N'Guyen; Anne de Septenville; Alexis Brice; Patrick Yu-Wai-Man; Hiromi Sesaki; Jean Pouget; Véronique Paquis-Flucklinger
Journal:  Brain       Date:  2014-06-16       Impact factor: 13.501

10.  Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

Authors:  Conceição Bettencourt; Mina Ryten; Paola Forabosco; Stephanie Schorge; Joshua Hersheson; John Hardy; Henry Houlden
Journal:  JAMA Neurol       Date:  2014-07-01       Impact factor: 18.302

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  13 in total

Review 1.  Familial Amyotrophic Lateral Sclerosis.

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

2.  Loss of C9orf72 function leads to autoimmunity.

Authors:  Lazaros I Sakkas; Dimitrios P Bogdanos; Eleni E Kousvelari
Journal:  Ann Transl Med       Date:  2017-02

3.  Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Authors:  Aaron Burberry; Naoki Suzuki; Jin-Yuan Wang; Rob Moccia; Daniel A Mordes; Morag H Stewart; Satomi Suzuki-Uematsu; Sulagna Ghosh; Ajay Singh; Florian T Merkle; Kathryn Koszka; Quan-Zhen Li; Leonard Zon; Derrick J Rossi; Jennifer J Trowbridge; Luigi D Notarangelo; Kevin Eggan
Journal:  Sci Transl Med       Date:  2016-07-13       Impact factor: 17.956

4.  Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD.

Authors:  Sandra Almeida; Fen-Biao Gao
Journal:  EMBO J       Date:  2016-05-06       Impact factor: 11.598

Review 5.  Prion Properties of SOD1 in Amyotrophic Lateral Sclerosis and Potential Therapy.

Authors:  Caroline Sibilla; Anne Bertolotti
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-10-03       Impact factor: 10.005

Review 6.  Major review: Molecular genetics of primary open-angle glaucoma.

Authors:  Yutao Liu; R Rand Allingham
Journal:  Exp Eye Res       Date:  2017-05-10       Impact factor: 3.467

7.  CDC Grand Rounds: National Amyotrophic Lateral Sclerosis (ALS) Registry Impact, Challenges, and Future Directions.

Authors:  Paul Mehta; D Kevin Horton; Edward J Kasarskis; Ed Tessaro; M Shira Eisenberg; Susan Laird; John Iskander
Journal:  MMWR Morb Mortal Wkly Rep       Date:  2017-12-22       Impact factor: 17.586

8.  Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Authors:  Fleur C Garton; Beben Benyamin; Qiongyi Zhao; Zhijun Liu; Jacob Gratten; Anjali K Henders; Zong-Hong Zhang; Janette Edson; Sarah Furlong; Sarah Morgan; Susan Heggie; Kathryn Thorpe; Casey Pfluger; Karen A Mather; Perminder S Sachdev; Allan F McRae; Matthew R Robinson; Sonia Shah; Peter M Visscher; Marie Mangelsdorf; Robert D Henderson; Naomi R Wray; Pamela A McCombe
Journal:  Mol Genet Genomic Med       Date:  2017-06-12       Impact factor: 2.183

9.  Parkin is a disease modifier in the mutant SOD1 mouse model of ALS.

Authors:  Gloria M Palomo; Veronica Granatiero; Hibiki Kawamata; Csaba Konrad; Michelle Kim; Andrea J Arreguin; Dazhi Zhao; Teresa A Milner; Giovanni Manfredi
Journal:  EMBO Mol Med       Date:  2018-10       Impact factor: 12.137

10.  Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

Authors:  Veronica Hirsch-Reinshagen; Cyril Pottier; Alexandra M Nicholson; Matt Baker; Ging-Yuek R Hsiung; Charles Krieger; Pheth Sengdy; Kevin B Boylan; Dennis W Dickson; Marsel Mesulam; Sandra Weintraub; Eileen Bigio; Lorne Zinman; Julia Keith; Ekaterina Rogaeva; Sasha A Zivkovic; David Lacomis; J Paul Taylor; Rosa Rademakers; Ian R A Mackenzie
Journal:  Acta Neuropathol Commun       Date:  2017-12-07       Impact factor: 7.801

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