Literature DB >> 21700728

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.

M Weber, C Neuwirth, J Thierbach, K Schweikert, A Czaplinski, J Petersen, H H Jung, A Birve, S L Marklund, P M Andersen.   

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Year:  2011        PMID： 21700728     DOI： 10.1136/jnnp.2011.241349

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Authors:  Maria Pia Giannoccaro; Anna Bartoletti-Stella; Silvia Piras; Annalisa Pession; Patrizia De Massis; Federico Oppi; Michelangelo Stanzani-Maserati; Elena Pasini; Simone Baiardi; Patrizia Avoni; Piero Parchi; Rocco Liguori; Sabina Capellari
Journal:  J Neurol       Date:  2017-06-15       Impact factor: 4.849

2.  Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.

Authors:  Christopher J Klein; Yanhong Wu; Xiaohui Duan; Sumit Middha; Brian D Dawson; Jean-Pierre Kocher; Peter J Dyck
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-06-06       Impact factor: 10.154

3.  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

4.  Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations.

Authors:  Dale J Lange; Mona Shahbazi; Vincenzo Silani; Albert C Ludolph; Jochen H Weishaupt; Senda Ajroud-Driss; Kara G Fields; Rahul Remanan; Stanley H Appel; Claudia Morelli; Alberto Doretti; Luca Maderna; Stefano Messina; Ulrike Weiland; Stefan L Marklund; Peter M Andersen
Journal:  Ann Neurol       Date:  2017-06-09       Impact factor: 10.422

5.  Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS.

Authors:  Michael Benatar; Joanne Wuu; Peter M Andersen; Nazem Atassi; William David; Merit Cudkowicz; David Schoenfeld
Journal:  Neurology       Date:  2018-01-24       Impact factor: 9.910
  5 in total

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