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TABLE OF CONTENTS Volume 5, Number 1, February 2019 Neurology.org/NG
The Helix
e309 2018: Year in Review andMessage from the Editors toOur ReviewersS.M. Pulst, R.P. Roos, A. Durr, J.M. Vance, M. Milone, andM. Pandolfo
Open Access
Articles
e304 Gene variants of adhesion molecules predispose toMS: A case-control studyE. Dardiotis, E. Panayiotou, V. Siokas, A.-M. Aloizou,K. Christodoulou, A. Hadjisavvas, M. Pantzaris, N. Grigoriadis,G.M. Hadjigeorgiou, and T. Kyriakides
Open Access
e305 Genomic deletions upstream of lamin B1 lead toatypical autosomal dominant leukodystrophyB.Nmezi, E.Giorgio, R. Raininko,A. Lehman,M. Spielmann,M.K. Koenig,R. Adejumo, M. Knight, R. Gavrilova, M. Alturkustani, M. Sharma,R. Hammond, W.A. Gahl, C. Toro, A. Brusco, and Q.S. Padiath
Open Access
e307 Copy number variation of LINGO1 in familialdystonic tremorV. Alakbarzade, T. Iype, B.A. Chioza, R. Singh, G.V. Harlalka,H. Hardy, A. Sreekantan-Nair, C. Proukakis, K. Peall, L.N. Clark,R. Caswell, H.L. Allen, M. Wakeling, J. Chilton, E.L. Baple, E.D. Louis,T.T. Warner, and A.H. Crosby
e308 GNE genotype explains 20% of phenotypic variabilityin GNE myopathyO. Pogoryelova, I.J. Wilson, H. Mansbach, Z. Argov, I. Nishino, andH. Lochmuller
Open Access
Clinical/Scientific Notes
e301 Variable reporting of C9orf72 and a high rate ofuncertain results in ALS genetic testingH. Klepek, S.A. Goutman, A. Quick, S.J. Kolb, and J. Roggenbuck
Open Access
e306 PUS3 mutations are associated with intellectualdisability, leukoencephalopathy, and nephropathyA.R.B. de Paiva, D.S. Lynch, U.S. Melo, L.T. Lucato, F. Freua,B.D.R. de Assis, I. Barcelos, C. Listik, D. de Castro dos Santos,L.I. Macedo-Souza, H. Houlden, and F. Kok
Open Access
Views & Reviews
e303 Genotype-structure-phenotype relationships divergein paralogs ATP1A1, ATP1A2, and ATP1A3K.J. Sweadner, E. Arystarkhova, J.T. Penniston, K.J. Swoboda,A. Brashear, and L.J. Ozelius
Open Access
Correction
e311 The complex structure of ATXN2 genetic variation
Cover imageThe highly conserved phosphorylation domain ofNa,K-ATPases, brokendown into its beta-sheet and surrounding alpha-helices. Yellow and pinksegments are widely separated in the linear structure but intimatelyinterwoven in the P domain. Aqua spheres are the magnesium ion at theactive site. Dominant mutations with a range of neurological phenotypeshave non-random distributions in Na,K-ATPase structure.See e303
Copyright © 2019 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
Academy OfficersRalph L. Sacco, MD, MS, FAAN, PresidentJames C. Stevens, MD, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerTerrence L. Cascino, MD, FAAN, Past President
Executive Office, American Academy of NeurologyCatherine M. Rydell, CAE, Executive Director/CEO20l Chicago AveMinneapolis, MN 55415Tel: 612-928-6000
Editorial OfficePatricia K. Baskin, MS, Executive EditorKathleen M. Pieper, Senior Managing Editor, NeurologyLee Ann Kleffman, Managing Editor, Neurology: GeneticsSharon L. Quimby, Managing Editor, Neurology® Clinical PracticeMorgan S. Sorenson, Managing Editor,Neurology® Neuroimmunology & NeuroinflammationCynthia S. Abair, MA, Senior Graphics EditorAndrea R. Rahkola, Production Editor, NeurologyRobert J. Witherow, Senior Editorial AssociateKaren Skaja, Senior Editorial AssociateKaitlyn Aman Ramm, Editorial AssistantKristen Swendsrud, Editorial AssistantJustin Daugherty, Editorial Assistant
PublisherWolters KluwerBaltimore, MD
Publishing StaffKim Jansen, Executive PublisherJessica Heise, Production Team Leader, Neurology JournalsMegen Miller, Production EditorSteve Rose, Editorial AssistantStacy Drossner, Production Associate
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Neurology® Genetics (eISSN 2376-7839) is an open access journal publishedonline for the American Academy of Neurology, 201 Chicago Avenue,Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 CiticorpDrive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at TwoCommerce Square, 2001 Market Street, Philadelphia, PA 19103. Productionoffices are located at 351 West Camden Street, Baltimore, MD 21201-2436.© 2019 American Academy of Neurology.
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A peer-reviewed clinical and translational neurology open access journal Neurology.org/NG
Neurology® Genetics
EditorStefan M. Pulst, MD, Dr med, FAAN
Deputy EditorMassimo Pandolfo, MD, FAAN
Associate EditorsAlexandra Durr, MD, PhDMargherita Milone, MD, PhDRaymond P. Roos, MD, FAANJeffery M. Vance, MD, PhD
Editorial BoardHilaryCoon, PhDGiovanniCoppola,MDChantalDepondt,MD,PhDBrentL. Fogel,MD,PhD,FAANAnthony J.Griswold, PhDOrhunH.Kantarci,MDJulieR.Korenberg, PhD,MDMargheritaMilone,MD,PhDDavidePareyson,MDShojiTsuji,MD,PhDDinekeS. Verbeek, PhDDavidViskochil,MD,PhDJulianeWinkelmann,MDJuan I. Young, PhD
Neurology® Journals
Editor-in-ChiefRobert A. Gross, MD, PhD, FAAN
Deputy EditorBradford B. Worrall, MD, MSc, FAAN
Section Editors
BiostatisticsRichard J. Kryscio, PhDChristopher A. Beck, PhDSue Leurgans, PhD
Classification of Evidence EvaluationsGary S. Gronseth, MD, FAAN
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Scientific Integrity AdvisorRobert B. Daroff, MD, FAAN
Classification of EvidenceReview Team
Melissa J. Armstrong,MDRichardL.Barbano,MD,PhD,FAANRichardM.Dubinsky,MD,MPH,FAANJeffrey J. Fletcher,MD,MScGaryM.Franklin,MD,MPH,FAANDavid S.Gloss II,MD,MPH&TMJohn J.Halperin,MD,FAANJasonLazarou,MSc,MDStevenR.Messe, MD, FAANPushpaNarayanaswami,MBBS,DM,
FAANAlexRae-Grant,MD
Vision Neurology®: Genetics will be the premier peer-reviewed journal in the field of neurogenetics.
Mission Neurology: Genetics will provide neurologistswith outstanding original contributions thatelucidate the role of genetic and epigeneticvariation in diseases and biological traits ofthe central and peripheral nervous systems.
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2019;5; Neurol Genet 5 (1)
This information is current as of January 1, 2019
ServicesUpdated Information &
http://ng.neurology.org/content/5/1.full.htmlincluding high resolution figures, can be found at:
Supplementary Material http://ng.neurology.org/content/suppl/2019/02/14/5.1.DC1
Supplementary material can be found at:
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is an official journal of the American Academy of Neurology. Published since April 2015, it isNeurol Genet