Articles

• Open Access

  Next-generation sequencing approach to hyperCKemiaA 2-year cohort study

  Anna Rubegni, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci, M. Alice Donati, M. Teresa Dotti, Antonio Federico, Fabio Giannini, Salvatore Grosso, Renzo Guerrini, Sara Lenzi, Maria A. Maioli, Federico Melani, Eugenio Mercuri, Michele Sacchini, Simona Salvatore, Gabriele Siciliano, Deborah Tolomeo, Paola Tonin, Nila Volpi, Filippo M. Santorelli, Denise Cassandrini

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  Impaired kidney structure and function in spinal muscular atrophy

  Flávia C. Nery, Jennifer J. Siranosian, Ivy Rosales, Marc-Olivier Deguise, Amita Sharma, Abdurrahman W. Muhtaseb, Pann Nwe, Alec J. Johnstone, Ren Zhang, Maryam Fatouraei, Natassja Huemer, Christiano R.R. Alves, Rashmi Kothary, Kathryn J. Swoboda

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  A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

  Changrui Xiao, Elaine M. Binkley, Jessica Rexach, Amy Knight-Johnson, Pravin Khemani, Brent L. Fogel, Soma Das, Edwin M. Stone, Christopher M. Gomez

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  Epidemiology of DYT1 dystoniaEstimating prevalence via genetic ascertainment

  Joseph Park, Scott M. Damrauer, Aris Baras, Jeffrey G. Reid, John D. Overton, Pedro Gonzalez-Alegre

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  Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

  Areej Mahjoub, Zuzana Cihlarova, Martine Tétreault, Lauren MacNeil, Neal Sondheimer, Keith W. Caldecott, Hana Hanzlikova, Grace Yoon, on behalf of the Care4Rare Canada Consortium

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