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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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October 2019; 5 (5)

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  • 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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  • Open Access
    Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant
    Ross C. Puffer, Robert J. Spinner, Hongyan Bi, Rishi Sharma, Yucai Wang, Jason D. Theis, Ellen D. McPhail, John J. Poterucha, Zhiyv Niu, Christopher J. Klein
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    A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
    Hossein Darvish, Luis J. Azcona, Elham Alehabib, Faezeh Jamali, Abbas Tafakhori, Sakineh Ranji-Burachaloo, Joanna C. Jen, Coro Paisán-Ruiz
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    Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease
    Michael Bayat, Yousef Yavarian, Allan Bayat, Jakob Christensen
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    Digital necrosis in an infant with severe spinal muscular atrophy
    Diana Carrasco, Pilar Magoulas, Jennifer C. Scull, Jill A. Jarrell, Seema R. Lalani, Michael F. Wangler
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Correction

  • Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
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Neurology Genetics: 5 (5)
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