Literature DB >> 23336365

The FIG4 gene does not play a major role in causing ALS in Italian patients.

Simonetta Verdiani1, Paola Origone, Alessandro Geroldi, Monica Bandettini Di Poggio, Vittorio Mantero, Emilia Bellone, Gianluigi Mancardi, Claudia Caponnetto, Paola Mandich.   

Abstract

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Year:  2013        PMID： 23336365     DOI： 10.3109/21678421.2012.760605

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler Frontotemporal Degener        ISSN： 2167-8421            Impact factor:   4.092


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  7 in total

Review 1.  Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.

Authors:  C Maurel; A Dangoumau; S Marouillat; C Brulard; A Chami; R Hergesheimer; P Corcia; H Blasco; C R Andres; P Vourc'h
Journal:  Mol Neurobiol       Date:  2018-01-10       Impact factor: 5.590

2.  Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Authors:  Philippe M Campeau; Guy M Lenk; James T Lu; Yangjin Bae; Lindsay Burrage; Peter Turnpenny; Jorge Román Corona-Rivera; Lucia Morandi; Marina Mora; Heiko Reutter; Anneke T Vulto-van Silfhout; Laurence Faivre; Eric Haan; Richard A Gibbs; Miriam H Meisler; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025

3.  FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Authors:  Alma Osmanovic; Isolde Rangnau; Anne Kosfeld; Susanne Abdulla; Claas Janssen; Bernd Auber; Peter Raab; Matthias Preller; Susanne Petri; Ruthild G Weber
Journal:  Eur J Hum Genet       Date:  2017-01-04       Impact factor: 4.246

4.  The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.

Authors:  Ognian C Ikonomov; Diego Sbrissa; Lauren M Compton; Rita Kumar; Ellen J Tisdale; Xuequn Chen; Assia Shisheva
Journal:  J Biol Chem       Date:  2015-09-24       Impact factor: 5.157

Review 5.  The expanding spectrum of neurological disorders of phosphoinositide metabolism.

Authors:  Jonathan R Volpatti; Almundher Al-Maawali; Lindsay Smith; Aqeela Al-Hashim; Julie A Brill; James J Dowling
Journal:  Dis Model Mech       Date:  2019-08-13       Impact factor: 5.758

Review 6.  A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.

Authors:  Owen Connolly; Laura Le Gall; Gavin McCluskey; Colette G Donaghy; William J Duddy; Stephanie Duguez
Journal:  J Pers Med       Date:  2020-06-29

Review 7.  The genetics of amyotrophic lateral sclerosis: current insights.

Authors:  Afnan A Alsultan; Rachel Waller; Paul R Heath; Janine Kirby
Journal:  Degener Neurol Neuromuscul Dis       Date:  2016-05-13
  7 in total

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