Literature DB >> 29464931

New FIG4 gene mutations causing aggressive ALS.

C Bertolin1, G Querin1, V Bozzoni1, I Martinelli1, M De Bortoli2, A Rampazzo2, C Gellera3, E Pegoraro1, G Sorarù1.   

Abstract

Keywords:  zzm321990FIG4zzm321990; amyotrophic lateral sclerosis; mutation

Year:  2018        PMID： 29464931     DOI： 10.1111/ene.13559

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  10 in total

1.  Protective role of the lipid phosphatase Fig4 in the adult nervous system.

Authors:  Yevgeniya A Mironova; Jing-Ping Lin; Ashley L Kalinski; Lucas D Huffman; Guy M Lenk; Leif A Havton; Miriam H Meisler; Roman J Giger
Journal:  Hum Mol Genet       Date:  2018-07-15       Impact factor: 6.150

2.  Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.

Authors:  Assia Shisheva; Diego Sbrissa; Bo Hu; Jun Li
Journal:  Mol Neurobiol       Date:  2019-07-16       Impact factor: 5.590

Review 3.  Roles of PIKfyve in multiple cellular pathways.

Authors:  Pilar Rivero-Ríos; Lois S Weisman
Journal:  Curr Opin Cell Biol       Date:  2022-05-16       Impact factor: 8.386

Review 4.  The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.

Authors:  Peter T Nelson; David W Fardo; Yuriko Katsumata
Journal:  J Neuropathol Exp Neurol       Date:  2020-06-01       Impact factor: 3.685

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

6.  Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.

Authors:  Kleita Michaelidou; Ioannis Tsiverdis; Sophia Erimaki; Dimitra Papadimitriou; Georgios Amoiridis; Alexandros Papadimitriou; Panayiotis Mitsias; Ioannis Zaganas
Journal:  Mol Genet Genomic Med       Date:  2020-02-05       Impact factor: 2.183

7.  Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Authors:  Viviana Pensato; Stefania Magri; Eleonora Dalla Bella; Pierpaola Tannorella; Enrica Bersano; Gianni Sorarù; Marta Gatti; Nicola Ticozzi; Franco Taroni; Giuseppe Lauria; Caterina Mariotti; Cinzia Gellera
Journal:  J Clin Med       Date:  2020-02-03       Impact factor: 4.241

8.  Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.

Authors:  Chang-Yun Liu; Ji-Lan Lin; Shu-Yan Feng; Chun-Hui Che; Hua-Pin Huang; Zhang-Yu Zou
Journal:  J Clin Neurol       Date:  2022-01       Impact factor: 3.077

9.  Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis.

Authors:  Mubalake Yilihamu; Xiaolu Liu; Xiaoxuan Liu; Yong Chen; Dongsheng Fan
Journal:  Front Neurol       Date:  2022-08-24       Impact factor: 4.086

Review 10.  ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

Authors:  Rita Mejzini; Loren L Flynn; Ianthe L Pitout; Sue Fletcher; Steve D Wilton; P Anthony Akkari
Journal:  Front Neurosci       Date:  2019-12-06       Impact factor: 4.677
  10 in total

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