Literature DB >> 25205077

A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease.

Björn Oskarsson1, Victoria Wheelock, Michael Benatar, J Paul Taylor, Nanette Joyce, David Chesak, Lee-Way Jin.   

Abstract

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Year:  2014        PMID： 25205077      PMCID： PMC4664522          DOI： 10.3109/21678421.2014.952238

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


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  8 in total

1.  Predictors of survival in a Huntington's disease population from southern Italy.

Authors:  Carlo Rinaldi; Elena Salvatore; Ilaria Giordano; Sara De Matteis; Tecla Tucci; Valeria Russo Cinzia; Fabiana Rossi; Imma Castaldo; Vincenzo Brescia Morra; Luigi Di Maio; Alessandro Filla; Giuseppe De Michele
Journal:  Can J Neurol Sci       Date:  2012-01       Impact factor: 2.104

Review 2.  Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation.

Authors:  A Rubio; K Steinberg; D A Figlewicz; M E MacDonald; T Greenamyre; R Hamill; I Shoulson; J M Powers
Journal:  Acta Neuropathol       Date:  1996-10       Impact factor: 17.088

3.  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

4.  VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations.

Authors:  Nam Chul Kim; Emilie Tresse; Regina-Maria Kolaitis; Amandine Molliex; Ruth E Thomas; Nael H Alami; Bo Wang; Aashish Joshi; Rebecca B Smith; Gillian P Ritson; Brett J Winborn; Jennifer Moore; Joo-Yong Lee; Tso-Pang Yao; Leo Pallanck; Mondira Kundu; J Paul Taylor
Journal:  Neuron       Date:  2013-03-14       Impact factor: 17.173

5.  Neuropathological classification of Huntington's disease.

Authors:  J P Vonsattel; R H Myers; T J Stevens; R J Ferrante; E D Bird; E P Richardson
Journal:  J Neuropathol Exp Neurol       Date:  1985-11       Impact factor: 3.685

6.  Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease.

Authors:  Jeong-Sun Ju; Sara E Miller; Phyllis I Hanson; Conrad C Weihl
Journal:  J Biol Chem       Date:  2008-08-20       Impact factor: 5.157

7.  Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Authors:  Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J Paul Taylor
Journal:  Neurology       Date:  2013-05-01       Impact factor: 9.910

8.  Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.

Authors:  Karen S Poksay; David T Madden; Anna K Peter; Kayvan Niazi; Surita Banwait; Danielle Crippen; Dale E Bredesen; Rammohan V Rao
Journal:  J Mol Neurosci       Date:  2011-01-20       Impact factor: 3.444
  8 in total
  3 in total

1.  A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.

Authors:  Jennifer M Gass; Jake McKay; Kimberly J Guthrie; Nicole Boczek; Paldeep S Atwal; Jay Van Gerpen
Journal:  Mov Disord Clin Pract       Date:  2016-07-23

2.  Detection of TDP-43 oligomers in frontotemporal lobar degeneration-TDP.

Authors:  Patricia F Kao; Yun-Ru Chen; Xiao-Bo Liu; Charles DeCarli; William W Seeley; Lee-Way Jin
Journal:  Ann Neurol       Date:  2015-06-30       Impact factor: 10.422

Review 3.  Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis.

Authors:  Bridget C Benson; Pamela J Shaw; Mimoun Azzouz; J Robin Highley; Guillaume M Hautbergue
Journal:  Front Neurosci       Date:  2021-12-23       Impact factor: 4.677
  3 in total

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