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Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28

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Footnotes

  • Contributors MZ and ZX were responsible for the genetic and methylation studies including data analyses. MG was responsible for analysis of the NeuroX array. AP, PJ and MP helped with designing and conducting the pyrosequencing experiment. KW helped on bisulfite PCR. DM, CS and YL were involved in sample preparation and sequencing of ALS genes. JR assisted in sample collection. LZ was responsible for obtaining clinical findings. ER conceived and supervised the project, and drafted the manuscript, with MZ, ZX and LZ. All the authors critically reviewed and approved the final manuscript.

  • Funding This work was supported by the Canadian Consortium on Neurodegeneration in Aging (ER, MZ), Weston Brain Institute (ER, ZX, LZ), the James Hunter ALS Initiative and the Temerty Family Foundation (LZ, JR).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Ethics approval for this project was obtained by the ethics board of the Sunnybrook Health Sciences Centre.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • MZ and ZX contributed equally.

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