TABLE OF CONTENTS Neurology.org/NG · Neurology® Genetics (eISSN 2376-7839) is an open access...
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TABLE OF CONTENTS Volume 5, Number 1, February 2019 Neurology.org/NG The Helix e309 2018: Year in Review and Message from the Editors to Our Reviewers S.M. Pulst, R.P. Roos, A. Durr, J.M. Vance, M. Milone, and M. Pandolfo Open Access Articles e304 Gene variants of adhesion molecules predispose to MS: A case-control study E. 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 to atypical autosomal dominant leukodystrophy B. 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 familial dystonic tremor V. 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 variability in GNE myopathy O. Pogoryelova, I.J. Wilson, H. Mansbach, Z. Argov, I. Nishino, and H. Lochm¨ uller Open Access Clinical/Scientific Notes e301 Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing H. Klepek, S.A. Goutman, A. Quick, S.J. Kolb, and J. Roggenbuck Open Access e306 PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy A.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 diverge in paralogs ATP1A1, ATP1A2, and ATP1A3 K.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 image The highly conserved phosphorylation domain of Na,K-ATPases, broken down into its beta-sheet and surrounding alpha-helices. Yellow and pink segments are widely separated in the linear structure but intimately interwoven in the P domain. Aqua spheres are the magnesium ion at the active site. Dominant mutations with a range of neurological phenotypes have non-random distributions in Na,K-ATPase structure. See e303 Copyright © 2019 American Academy of Neurology. Unauthorized reproduction of this article is prohibited.
Transcript of TABLE OF CONTENTS Neurology.org/NG · Neurology® Genetics (eISSN 2376-7839) is an open access...
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.
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