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ANXA11 Mutations Prevail in Chinese ALS Patients with and Without Cognitive Dementia E237

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ANXA11 Mutations Prevail in Chinese ALS Patients with and Without Cognitive Dementia E237 Volume 4, Number 3, June 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia e237 ARTICLE Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016 e239 ARTICLE Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis e245 CLINICAL/SCIENTIFIC NOTE Brain copper storage aft er genetic long-term correction in a mouse model of Wilson disease e243 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). Ralph L. Sacco, MD, MS, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published James C. Stevens, MD, 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 © 2018 American Academy of Neurology. Terrence L. Cascino, MD, 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, Executive Director/CEO article. 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Kaitlyn Aman Ramm, Editorial Assistant Special projects: US & Canada: Alan Moore, Wolters Kluwer, Two Kristen Swendsrud, Editorial Assistant Commerce Square, 2001 Market Street, Philadelphia, PA 19103, tel: 215-521-8638, [email protected]. International: Andrew Andrea Willgohs, Editorial Assistant Wible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer; [email protected]. Publisher Wolters Kluwer Baltimore, MD Publishing Staff Kim Jansen, Executive Publisher Jessica Heise, Production Team Leader, Neurology Journals Megen Miller, Production Editor Steve Rose, Editorial Assistant Stacy Drossner, Production Associate A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG Neurology® Genetics Editor Stefan M. Pulst, MD, Dr med, FAAN Vision Neurology®: Genetics will be the premier peer- reviewed journal in the field of neurogenetics. Deputy Editor Nicholas Elwood Johnson, MD Mission Neurology: Genetics will provide neurologists Associate Editors with outstanding original contributions that Alexandra Durr, MD, PhD elucidate the role of genetic and epigenetic Massimo Pandolfo, MD, FAAN variation in diseases and biological traits of Raymond P. Roos, MD, FAAN the central and peripheral nervous systems. Jeffery M. Vance, MD, PhD Editorial Board Editorial Tel: 612-928-6400 Hilary Coon, PhD Giovanni Coppola, MD Inquiries Toll-free: 800-957-3182 (US) ChantalDepondt, MD, PhD Fax: 612-454-2748 Brent L. Fogel, MD, PhD, FAAN [email protected] AnthonyJ. Griswold, PhD Orhun H. Kantarci, MD Julie R. Korenberg, PhD, MD Stay facebook.com/NeurologyGenetics MargheritaMilone, MD, PhD Connected Davide Pareyson, MD twitter.com/greenjournal Shoji Tsuji, MD,PhD DinekeS. Verbeek,PhD youtube.com/user/NeurologyJournal David Viskochil, MD,PhD JulianeWinkelmann, MD Juan I. Young, PhD Neurology® Journals Editor-in-Chief Classification of Evidence Robert A. Gross, MD, PhD, FAAN Review Team Melissa J. Armstrong, MD Deputy Editor Richard L. Barbano, MD,PhD, FAAN Bradford B. Worrall, MD, MSc, FAAN RichardM.Dubinsky,MD,MPH,FAAN Jeffrey J. Fletcher, MD, MSc Section Editors Gary M. Franklin, MD, MPH, FAAN David S. Gloss II, MD,MPH&TM Biostatistics John J. Halperin, MD,FAAN Richard J. Kryscio, PhD Jason Lazarou, MSc, MD Christopher A. Beck, PhD Steven R. Mess´e, MD, FAAN Sue Leurgans, PhD Pushpa Narayanaswami, MBBS, DM, FAAN fi Classi cation of Evidence Evaluations Alex Rae-Grant, MD Gary S. Gronseth, MD, FAAN Podcasts Andrew M. Southerland, MD, MSc Ted M. Burns, MD, Deputy Podcast Editor Ombudsman David S. Knopman, MD, FAAN Scientific Integrity Advisor Robert B. Daroff, MD, FAAN TABLE OF CONTENTS Volume 4, Number 3, June 2018 Neurology.org/NG e239 Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016 M. Ryan, M. Heverin, M.A. Doherty, N. Davis, E.M. Corr, A. Vajda, N. Pender, R. McLaughlin, and O. Hardiman Open Access e242 Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing S. Walker, R. Dad, B. Thiruvahindrapuram, M.I. Ullah, A. Ahmad, M.J. Hassan, S.W. Scherer, and B.A. Minassian Open Access e240 Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F N.M. Shanbhag, M.D. Geschwind, J.J. DiGiovanna, C. Groden, R. Godfrey, M.J. Yousefzadeh, E.A. Wade, L.J. Niedernhofer, M.C.V. Malicdan, K.H. Kraemer, W.A. Gahl, and C. Toro Open Access e244 Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy M.T. Sainio, E. Ylikallio, L. M¨aenp¨a¨a, J. Lahtela, P. Mattila, M. Auranen, J. Palmio, and H. Tyynismaa Open Access Clinical/Scientific Notes e232 Expanding the global prevalence of spinocerebellar ataxia type 42 K. Ngo, M. Aker, L.E. Petty, J. Chen, F. Cavalcanti, A.B. Nelson, S. Hassin-Baer, M.D. Geschwind, S. Perlman, D. Italiano, A. Lagan`a, S. Cavallaro, G. Coppola, J.E. Below, and B.L. Fogel Open Access e243 Brain copper storage after genetic long-term correction in Editorial a mouse model of Wilson disease R. Uerlings, D. Moreno, O. Murillo, C. Gazquez, R. Hern´andez-Alcoceba, e241 Whole-exome sequencing to disentangle the complex G. Gonz´alez-Aseguinolaza, and R. Weiskirchen genetics of hippocampal sclerosis–temporal lobe epilepsy Open Access P. Striano and C. Nobile Open Access Companion article, e245 Correction Articles e238 Expanding the global prevalence of spinocerebellar ataxia type 42 e245 Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis J.K.L. Wong, H. Gui, M. Kwok, P.W. Ng, C.H.T. Lui, L. Baum, P.C. Sham, P. Kwan, and S.S. Cherny Open Access Editorial, e241 e236 Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome M.S. Hildebrand, A.S. Harvey, S. Malone, J.A. Damiano, H. Do, Z. Ye, L. McQuillan, W. Maixner, R. Kalnins, B. Nolan, M. Wood, E. Ozturk, N.C. Jones, G. Gillies, K. Pope, P.J. Lockhart, A. Dobrovic, R.J. Leventer, I.E. Scheffer, and S.F. Berkovic Open Access Cover image e237 ANXA11 mutations prevail in Chinese ALS patients with Immunocytochemical analysis of MAP2 (green) and TUBB3 (red) and without cognitive dementia proteins in iPSC-derived neurons of a patient with early-onset Charcot- “ fi K. Zhang, Q. Liu, K. Liu, D. Shen, H. Tai, S. Shu, Q. Ding, H. Fu, S. Liu, Marie-Tooth neuropathy. See Absence of NEFL in patient-speci c Z. Wang, X. Li, M. Liu, X. Zhang, and L. Cui neurons in early-onset Charcot-Marie-Tooth neuropathy.” Open Access See e244 EDITORIAL OPEN ACCESS Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy Pasquale Striano, MD, PhD, and Carlo Nobile, PhD Correspondence Dr. Striano Neurol Genet 2018;4:e241. doi:10.1212/NXG.0000000000000241 [email protected] Mesial temporal
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