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Next-Generation Sequencing Approach to Hyperckemia: a 2-Year Cohort Study E352 Volume 5, Number 5, October 2019 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Next-generation sequencing approach to hyperCKemia: A 2-year cohort study e352 ARTICLE Impaired kidney structure and function in spinal muscular atrophy e353 ARTICLE A family with spinocerebellar ataxia and retinitis pigmentosa att ributed to an ELOVL4 mutation e357 ARTICLE Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment e358 TABLE OF CONTENTS Volume 5, Number 5, October 2019 Neurology.org/NG e358 Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment J. Park, S.M. Damrauer, A. Baras, J.G. Reid, J.D. Overton, and P. Gonzalez-Alegre Open Access e359 Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia A. Mahjoub, Z. Cihlarova, M. T´etreault, L. MacNeil, N. Sondheimer, K.W. Caldecott, H. Hanzlikova, and G. Yoon, on behalf of the Care4Rare Canada Consortium Open Access Video Clinical/Scientific Notes e351 Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant R.C. Puffer, R.J. Spinner, H. Bi, R. Sharma, Y. Wang, J.D. Theis, E.D. McPhail, J.J. Poterucha, Z. Niu, and C.J. Klein Open Access e356 A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors H. Darvish, L.J. Azcona, E. Alehabib, F. Jamali, A. Tafakhori, S. Ranji-Burachaloo, J.C. Jen, and C. Pais´an-Ruiz Open Access e360 Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease M. Bayat, Y. Yavarian, A. Bayat, and J. Christensen Open Access e361 Digital necrosis in an infant with severe spinal muscular atrophy Articles D. Carrasco, P. Magoulas, J.C. Scull, J.A. Jarrell, S.R. Lalani, and M.F. Wangler e352 Next-generation sequencing approach to Open Access hyperCKemia: A 2-year cohort study Correction A. Rubegni, A. Malandrini, C. Dosi, G. Astrea, J. Baldacci, C. Battisti, G. Bertocci, M.A. Donati, M.T. Dotti, A. Federico, F. Giannini, e362 Genomic deletions upstream of lamin B1 lead to S. Grosso, R. Guerrini, S. Lenzi, M.A. Maioli, F. Melani, E. Mercuri, M. Sacchini, S. Salvatore, G. Siciliano, D. Tolomeo, P. Tonin, N. Volpi, atypical autosomal dominant leukodystrophy F.M. Santorelli, and D. Cassandrini Open Access e353 Impaired kidney structure and function in spinal muscular atrophy F.C. Nery, J.J. Siranosian, I. Rosales, M.-O. Deguise, A. Sharma, A.W. Muhtaseb, P. Nwe, A.J. Johnstone, R. Zhang, M. Fatouraei, N. Huemer, C.R.R. Alves, R. Kothary, and K.J. Swoboda Open Access e357 A family with spinocerebellar ataxia and retinitis Cover image pigmentosa attributed to an ELOVL4 mutation Kidney histopathology in patients with SMA type 1. Sections from the fi C. Xiao, E.M. Binkley, J. Rexach, A. Knight-Johnson, P. Khemani, kidneys of SMA cases show medullary calci cations along collecting B.L. Fogel, S. Das, E.M. Stone, and C.M. Gomez ducts. Medullary interstitial fibrosis is also present (trichrome). Open Access See e353 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2019 American Academy of Neurology. Ralph L. Sacco, MD, MS, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com Executive Office, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Catherine M. Rydell, CAE article. Alternatively, send an email to [email protected]. Chief Executive Officer General information about permissions can be found here: https://shop.lww.com/ journal-permission. 20l Chicago Ave Disclaimer: Opinions expressed by the authors and advertisers are not Minneapolis, MN 55415 necessarily those of the American Academy of Neurology, its affiliates, or of the Publisher. 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Unauthorized reproduction of this article is prohibited. ARTICLE OPEN ACCESS Next-generation sequencing approach to hyperCKemia A 2-year cohort study Anna Rubegni, MD, Alessandro Malandrini, MD, Claudia Dosi, MD, Guja Astrea, MD, Jacopo Baldacci, BS, Correspondence Carla Battisti, MD, Giulia Bertocci, BSc, M. Alice Donati, MD, M. Teresa Dotti, MD, Antonio Federico, MD, Dr. Santorelli [email protected] Fabio Giannini, MD, Salvatore Grosso, MD, Renzo Guerrini, MD, Sara
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