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TABLE OF CONTENTS Volume 4, Number 1, February 2018 Neurology.org/NG
The Helix
e221 2017 Year in Review and Message from the Editorsto Our ReviewersS.M. Pulst, N.E. Johnson, M. Pandolfo, R.P. Roos, and J.M. Vance
Open Access
Articles
e209 Biallelic CHP1 mutation causes humanautosomal recessive ataxia by impairingNHE1 functionN. Mendoza-Ferreira, M. Coutelier, E. Janzen, S. Hosseinibarkooie,H. Lohr, S. Schneider, J. Milbradt, M. Karakaya, M. Riessland,C. Pichlo, L. Torres-Benito, A. Singleton, S. Zuchner, A. Brice, A. Durr,M. Hammerschmidt, G. Stevanin, and B. Wirth
Open Access
e211 Alzheimer risk loci and associated neuropathologyin a population-based study (Vantaa 85+)M. Makela, K. Kaivola, M. Valori, A. Paetau, T. Polvikoski,A.B. Singleton, B.J. Traynor, D.J. Stone, T. Peuralinna, P.J. Tienari,M. Tanskanen, and L. Myllykangas
Open Access
e213 Familial monophasic acute transverse myelitisdue to the pathogenic variant in VPS37AM.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 theevaluation of neuromuscular disordersG.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, andJ.S. Berg
Open Access
e210 Duplications at 19q13.33 in patients withneurodevelopmental disordersE. Perez-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 diseasepathophysiology in vivo and postmortemA.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 DiseaseNeuroimaging Initiative
Open Access
e217 AP4 deficiency: A novel form of neurodegenerationwith 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, andG. Lenaers
Open Access
Clinical/Scientific Notes
e214 Expanding the ADCY5 phenotype toward spasticparaparesis: A mutation in the M2 domainA.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
Open Access
e215 Late-onset and acute presentation ofBrown-Vialetto-Van Laere syndrome in aBrazilian familyS. Camargos, R. Guerreiro, J. Bras, and L.S. Mageste
Open Access
e218 Homozygous CAPN1 mutations causing aspastic-ataxia phenotype in 2 familiesC. Kocoglu, A. Gundogdu, G. Kocaman, P. Kahraman-Koytak,K. Uluc, G. Kiziltan, A.O. Caglayan, K. Bilguvar, A. Vural, andA.N. Basak
Open Access
e219 1q21.1 Duplication syndrome and epilepsy:Case report and reviewI. Gourari, R. Schubert, and A. Prasad
Open Access
e220 Novel hemizygous nonsense mutation in DRP2is associated with inherited neuropathyR.H. Roda, B.A. McCray, C.J. Klein, and A. Hoke
Open Access
Cover imageQuantitative analysis of cerebellar defects demonstrates that co-injectionof chp1MO and human CHP1-WTmRNA significantly ameliorates thisphenotype. See “Biallelic CHP1 mutation causes human autosomalrecessive ataxia by impairing NHE1 function.”See e209
TABLE OF CONTENTS Volume 4, Number 1, February 2018 Neurology.org/NG
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 AssistantAndrea Willgohs, Editorial Assistant
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2018;4; Neurol Genet 4 (1)
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