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Biallelic CHP1 Mutation Causes Human Autosomal Recessive Ataxia by Impairing NHE1 Function E209

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Biallelic CHP1 Mutation Causes Human Autosomal Recessive Ataxia by Impairing NHE1 Function E209 Volume 4, Number 1, February 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function e209 ARTICLE Familial monophasic acute transverse myelitis due to pathogenic variant in VPS37A e213 ARTICLE Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+) e211 ARTICLE CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo & postmortem e216 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. 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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 1, February 2018 Neurology.org/NG e213 Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A M.A. Mealy, T.-S. Nam, S.J. Pardo, C.A. Pardo, N.L. Sobreira, D. Avramopoulos, D. Valle, K.H. Burns, and M. Levy Open Access e212 Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders G.T. Haskell, M.C. Adams, Z. Fan, K. Amin, R.J. Guzman Badillo, L. Zhou, C. Bizon, N. Chahin, R.S. Greenwood, L.V. Milko, Y. Shiloh-Malawsky, K.R. Crooks, N. Strande, M. Tennison, C.R. Tilley, A. Brandt, K.C. Wilhelmsen, K. Weck, J.P. Evans, and J.S. Berg Open Access e210 Duplications at 19q13.33 in patients with neurodevelopmental disorders E. P´erez-Palma, E. Saarentaus, M. Ravoet, G.V. De Ferrari, P. Nurnberg,¨ B. Isidor, B.A. Neubauer, and D. Lal Open Access e216 CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortem A.L. Benedet, L. Yu, A. Labbe, S. Mathotaarachchi, T.A. Pascoal, M. Shin, M.-S. Kang, S. Gauthier, G.A. Rouleau, J. Poirier, D.A. Bennett, and P. Rosa-Neto, for the Alzheimer’s Disease Neuroimaging Initiative Open Access e217 AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? A. Roubertie, N. Hieu, C.-J. Roux, N. Leboucq, G. Manes, M.Charif,B.Echenne,C.Goizet,C.Guissart,P.Meyer, C. Marelli, F. Rivier, L. Burglen, R. Horvath, C.P. Hamel, and The Helix G. Lenaers Open Access e221 2017 Year in Review and Message from the Editors to Our Reviewers Clinical/Scientific Notes S.M. Pulst, N.E. Johnson, M. Pandolfo, R.P. Roos, and J.M. Vance Open Access e214 Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain Articles A.J.E. Waalkens, F. Vansenne, A.H. van der Hout, R. Zutt, J. Mourmans, E. Tolosa, T.J. de Koning, and M.A.J. Tijssen e209 Biallelic CHP1 mutation causes human Open Access autosomal recessive ataxia by impairing NHE1 function e215 Late-onset and acute presentation of N. Mendoza-Ferreira, M. Coutelier, E. Janzen, S. Hosseinibarkooie, Brown-Vialetto-Van Laere syndrome in a H. Lohr,¨ S. Schneider, J. Milbradt, M. Karakaya, M. Riessland, C. Pichlo, L. Torres-Benito, A. Singleton, S. Zuchner, A. Brice, A. Durr, Brazilian family M. Hammerschmidt, G. Stevanin, and B. Wirth S. Camargos, R. Guerreiro, J. Bras, and L.S. Mageste Open Access Open Access e211 Alzheimer risk loci and associated neuropathology e218 Homozygous CAPN1 mutations causing a in a population-based study (Vantaa 85+) spastic-ataxia phenotype in 2 families M. M¨akel¨a, K. Kaivola, M. Valori, A. Paetau, T. Polvikoski, C. Kocoglu, A. Gundogdu, G. Kocaman, P. Kahraman-Koytak, A.B. Singleton, B.J. Traynor, D.J. Stone, T. Peuralinna, P.J. Tienari, K. Uluc, G. Kiziltan, A.O. Caglayan, K. Bilguvar, A. Vural, and M. Tanskanen, and L. Myllykangas A.N. Basak Open Access Open Access TABLE OF CONTENTS Volume 4, Number 1, February 2018 Neurology.org/NG e219 1q21.1 Duplication syndrome and epilepsy: Case report and review I. Gourari, R. Schubert, and A. Prasad Open Access e220 Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy R.H. Roda, B.A. McCray, C.J. Klein, and A. Hoke Open Access Cover image Quantitative
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