Literature DB >> 31802421

A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis.

Jieshan Chi1, Junling Chen1, Yan Li1, Zhiheng Huang1, Lijuan Wang1, Yuhu Zhang2.   

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Year:  2019        PMID： 31802421      PMCID： PMC6977784          DOI： 10.1007/s12264-019-00448-8

Source DB:  PubMed          Journal:  Neurosci Bull        ISSN： 1995-8218            Impact factor:   5.203


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2.  A revision of the El Escorial criteria - 2015.

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3.  A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

Authors:  Caroline Ingre; John E Landers; Naji Rizik; Alexander E Volk; Chizuru Akimoto; Anna Birve; Annemarie Hübers; Pamela J Keagle; Katarzyna Piotrowska; Rayomand Press; Peter Munch Andersen; Albert C Ludolph; Jochen H Weishaupt
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Review 4.  ALS Genes in the Genomic Era and their Implications for FTD.

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Journal:  Trends Genet       Date:  2018-03-28       Impact factor: 11.639

5.  Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.

Authors:  Matthew D Figley; Gregor Bieri; Regina-Maria Kolaitis; J Paul Taylor; Aaron D Gitler
Journal:  J Neurosci       Date:  2014-06-11       Impact factor: 6.167

6.  PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.

Authors:  YongPing Chen; Zhen-Zhen Zheng; Rui Huang; Ke Chen; Wei Song; Bi Zhao; XuePing Chen; Yuan Yang; LiXing Yuan; Hui-Fang Shang
Journal:  Neurobiol Aging       Date:  2013-02-19       Impact factor: 4.673

Review 7.  Amyotrophic lateral sclerosis and motor neuron syndromes in Asia.

Authors:  N Shahrizaila; G Sobue; S Kuwabara; S H Kim; Carol Birks; D S Fan; J S Bae; C J Hu; M Gourie-Devi; Y Noto; K Shibuya; K J Goh; R Kaji; C P Tsai; L Cui; P Talman; R D Henderson; S Vucic; M C Kiernan
Journal:  J Neurol Neurosurg Psychiatry       Date:  2016-04-19       Impact factor: 10.154

8.  Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Authors:  Chi-Hong Wu; Claudia Fallini; Nicola Ticozzi; Pamela J Keagle; Peter C Sapp; Katarzyna Piotrowska; Patrick Lowe; Max Koppers; Diane McKenna-Yasek; Desiree M Baron; Jason E Kost; Paloma Gonzalez-Perez; Andrew D Fox; Jenni Adams; Franco Taroni; Cinzia Tiloca; Ashley Lyn Leclerc; Shawn C Chafe; Dev Mangroo; Melissa J Moore; Jill A Zitzewitz; Zuo-Shang Xu; Leonard H van den Berg; Jonathan D Glass; Gabriele Siciliano; Elizabeth T Cirulli; David B Goldstein; Francois Salachas; Vincent Meininger; Wilfried Rossoll; Antonia Ratti; Cinzia Gellera; Daryl A Bosco; Gary J Bassell; Vincenzo Silani; Vivian E Drory; Robert H Brown; John E Landers
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

9.  Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.

Authors:  Daniel Fil; Abigail DeLoach; Shilpi Yadav; Duah Alkam; Melanie MacNicol; Awantika Singh; Cesar M Compadre; Joseph J Goellner; Charles A O'Brien; Tariq Fahmi; Alexei G Basnakian; Noel Y Calingasan; Jodi L Klessner; Flint M Beal; Owen M Peters; Jake Metterville; Robert H Brown; Karen K Y Ling; Frank Rigo; P Hande Ozdinler; Mahmoud Kiaei
Journal:  Hum Mol Genet       Date:  2017-02-15       Impact factor: 6.150

10.  Prevalence of Amyotrophic Lateral Sclerosis - United States, 2015.

Authors:  Paul Mehta; Wendy Kaye; Jaime Raymond; Reshma Punjani; Theodore Larson; Jessica Cohen; Oleg Muravov; Kevin Horton
Journal:  MMWR Morb Mortal Wkly Rep       Date:  2018-11-23       Impact factor: 17.586
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Journal:  Int J Mol Sci       Date:  2022-05-19       Impact factor: 6.208

2.  Increased ROS-Dependent Fission of Mitochondria Causes Abnormal Morphology of the Cell Powerhouses in a Murine Model of Amyotrophic Lateral Sclerosis.

Authors:  Jan Stein; Bernd Walkenfort; Hilal Cihankaya; Mike Hasenberg; Verian Bader; Konstanze F Winklhofer; Pascal Röderer; Johann Matschke; Carsten Theiss; Veronika Matschke
Journal:  Oxid Med Cell Longev       Date:  2021-10-14       Impact factor: 6.543
  2 in total

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