NNG-AimsandScope 5 3 1. - Genetics · e327 X-linked myotubular myopathy and recurrent spontaneous...
5
TABLE OF CONTENTS Volume 5, Number 3, June 2019 Neurology.org/NG Editorial e326 HACE1, RAC1, and what else in the pathogenesis of SPPRS? H.-X. Deng Open Access Companion article, e330 Articles e330 HACE1 deficiency leads to structural and functional neurodevelopmental defects V. Nagy, R. Hollstein, T.-P. Pai, M.K. Herde, P. Buphamalai, P. Moeseneder, E. Lenartowicz, A. Kavirayani, G.C. Korenke, I. Kozieradzki, R. Nitsch, A. Cicvaric, F.J. Monje Quiroga, M.A. Deardorff, E.C. Bedoukian, Y. Li, G. Yigit, J. Menche, E.F. Perçin, B. Wollnik, C. Henneberger, F.J. Kaiser, and J.M. Penninger Open Access Editorial, e326 e328 Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein Y. Urata, M. Nakamura, N. Sasaki, N. Shiokawa, Y. Nishida, K. Arai, H. Hiwatashi, I. Yokoyama, S. Narumi, Y. Terayama, T. Murakami, Y. Ugawa, H. Sakamoto, S. Kaneko, Y. Nakazawa, R. Yamasaki, S. Sadashima, T. Sakai, H. Arai, and A. Sano Open Access e331 Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training A.S. Ryan, H. Xu, F.M. Ivey, R.F. Macko, and C.E. Hafer-Macko Open Access e332 Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis Y. Nishida, M. Nakamura, Y. Urata, K. Kasamo, H. Hiwatashi, I. Yokoyama, M. Mizobuchi, K. Sakurai, Y. Osaki, Y. Morita, M. Watanabe, K. Yoshida, K. Yamane, N. Miyakoshi, R. Okiyama, T. Ueda, N. Wakasugi, Y. Saitoh, T. Sakamoto, Y. Takahashi, K. Shibano, H. Tokuoka, A. Hara, K. Monma, K. Ogata, K. Kakuda, H. Mochizuki, T. Arai, M. Araki, T. Fujii, K. Tsukita, H. Sakamaki-Tsukita, and A. Sano Open Access e334 HTT haplogroups in Finnish patients with Huntington disease S. Yl¨ onen, J.O.T. Sipil¨ a, M. Hietala, and K. Majamaa Open Access e335 Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation L. Kuuluvainen, K. Kaivola, S. M¨ onk¨ are, H. Laaksovirta, M. Jokela, B. Udd, M. Valori, P. Pasanen, A. Paetau, B.J. Traynor, D.J. Stone, J. Schleutker, M. P¨ oyh¨ onen, P.J. Tienari, and L. Myllykangas Open Access e336 Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease C. Newell, A. Khan, D. Sinasac, J. Shoffner, M.W. Friederich, J.L.K. Van Hove, S. Hume, J. Shearer, and I. Sosova Open Access e337 Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression A. Vihola, J. Palmio, O. Danielsson, S. Penttil¨ a, D. Louiselle, S. Pittman, C. Weihl, and B. Udd Open Access e338 DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1 C. L´ egar´ e, G. Overend, S.-P. Guay, D.G. Monckton, J. Mathieu, C. Gagnon, and L. Bouchard Open Access Clinical/Scientific Notes e302 A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis J. Thottath, S.K. Vellarikkal, R. Jayarajan, A. Verma, M. Manamel, A. Singh, V.R. Rajendran, S. Sivasubbu, and V. Scaria Open Access
Transcript of NNG-AimsandScope 5 3 1. - Genetics · e327 X-linked myotubular myopathy and recurrent spontaneous...
TABLE OF CONTENTS Volume 5, Number 3, June 2019 Neurology.org/NG
Editorial
e326 HACE1, RAC1, and what else in the pathogenesisof SPPRS?H.-X. Deng
Open Access Companion article, e330
Articles
e330 HACE1 deficiency leads to structural and functionalneurodevelopmental defectsV. Nagy, R. Hollstein, T.-P. Pai, M.K. Herde, P. Buphamalai,P. Moeseneder, E. Lenartowicz, A. Kavirayani, G.C. Korenke,I. Kozieradzki, R. Nitsch, A. Cicvaric, F.J. Monje Quiroga,M.A. Deardorff, E.C. Bedoukian, Y. Li, G. Yigit, J. Menche, E.F. Perçin,B. Wollnik, C. Henneberger, F.J. Kaiser, and J.M. Penninger
Open Access Editorial, e326
e328 Novel pathogenic XKmutations inMcLeod syndromeand interaction between XK protein and choreinY. Urata, M. Nakamura, N. Sasaki, N. Shiokawa, Y. Nishida, K. Arai,H. Hiwatashi, I. Yokoyama, S. Narumi, Y. Terayama, T. Murakami,Y. Ugawa, H. Sakamoto, S. Kaneko, Y. Nakazawa, R. Yamasaki,S. Sadashima, T. Sakai, H. Arai, and A. Sano
Open Access
e331 Brain-derived neurotrophic factor, epigenetics instroke skeletal muscle, and exercise trainingA.S. Ryan, H. Xu, F.M. Ivey, R.F. Macko, andC.E. Hafer-Macko
Open Access
e332 Novel pathogenicVPS13A genemutations in Japanesepatients with chorea-acanthocytosisY. Nishida, M. Nakamura, Y. Urata, K. Kasamo, H. Hiwatashi,I. Yokoyama, M. Mizobuchi, K. Sakurai, Y. Osaki, Y. Morita,M. Watanabe, K. Yoshida, K. Yamane, N. Miyakoshi, R. Okiyama,T. Ueda, N. Wakasugi, Y. Saitoh, T. Sakamoto, Y. Takahashi,K. Shibano, H. Tokuoka, A. Hara, K. Monma, K. Ogata, K. Kakuda,H. Mochizuki, T. Arai, M. Araki, T. Fujii, K. Tsukita,H. Sakamaki-Tsukita, and A. Sano
Open Access
e334 HTT haplogroups in Finnish patients withHuntington diseaseS. Ylonen, J.O.T. Sipila, M. Hietala, and K. Majamaa
Open Access
e335 Oligogenic basis of sporadic ALS: The example ofSOD1 p.Ala90Val mutationL. Kuuluvainen, K. Kaivola, S. Monkare, H. Laaksovirta,M. Jokela, B. Udd, M. Valori, P. Pasanen, A. Paetau, B.J. Traynor,D.J. Stone, J. Schleutker, M. Poyhonen, P.J. Tienari, andL. Myllykangas
Open Access
e336 Hybrid gel electrophoresis using skin fibroblasts toaid in diagnosing mitochondrial diseaseC. Newell, A. Khan, D. Sinasac, J. Shoffner, M.W. Friederich,J.L.K. Van Hove, S. Hume, J. Shearer, and I. Sosova
Open Access
e337 Novel mutation in TNPO3 causes congenitallimb-girdle myopathy with slow progressionA. Vihola, J. Palmio, O. Danielsson, S. Penttila, D. Louiselle,S. Pittman, C. Weihl, and B. Udd
Open Access
e338 DMPK gene DNA methylation levels areassociated with muscular and respiratory profilesin DM1C. Legare, G. Overend, S.-P. Guay, D.G. Monckton, J. Mathieu,C. Gagnon, and L. Bouchard
Open Access
Clinical/Scientific Notes
e302 A novel cathepsin D mutation in 2 siblings with lateinfantile neuronal ceroid lipofuscinosisJ. Thottath, S.K. Vellarikkal, R. Jayarajan, A. Verma, M. Manamel,A. Singh, V.R. Rajendran, S. Sivasubbu, and V. Scaria
Open Access
e327 X-linked myotubular myopathy and recurrentspontaneous pneumothorax: A new phenotype?P.-O. Carstens, E.M.C. Schwaibold, K. Schregel, C.D. Obermaier,A. Wrede, S. Zechel, S. Pauli, and J. Schmidt
Open Access
e329 First TMEM126A missense mutation in an Italianproband with optic atrophy and deafnessC. La Morgia, L. Caporali, F. Tagliavini, F. Palombo, M. Carbonelli,R. Liguori, P. Barboni, and V. Carelli
Open Access
e333 Double somatic mosaicism in a child with DravetsyndromeA.M. Muir, C. King, A.L. Schneider, A.S. Buttar, I.E. Scheffer,L.G. Sadleir, and H.C. Mefford
Open Access
Cover imageNeuropathologic findings of the autopsied patient. Plastic-embeddedsections from the dorsal spinal root show normal density of axons.See e335
TABLE OF CONTENTS Volume 5, Number 3, June 2019 Neurology.org/NG
Academy OfficersJames C. Stevens, MD, FAAN, PresidentOrly Avitzur, MD, MBA, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerRalph L. Sacco, MD, MS, FAAN, Past President
Executive Office, American Academy of NeurologyCatherine M. Rydell, CAEChief Executive Officer20l 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 & NeuroinflammationAndrea Rahkola, Production Editor, NeurologyRobert J. Witherow, Senior Editorial AssociateKaren Skaja, Senior Editorial AssociateKaitlyn Aman Ramm, Editorial AssistantKristen Swendsrud, Editorial AssistantJustin Daugherty, Editorial AssistantMadeleine Sendek, MPH, 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
Neurology® is a registered trademark of the American Academy of Neurology(registration valid in the United States).
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.
Neurology® Genetics is an official journal of the American Academy ofNeurology. Journal website: Neurology.org/ng, AAN website: AAN.com
Copyright and Permission Information: Please go to the journal website(www.neurology.org/ng) and click the Permissions tab for the relevantarticle. Alternatively, send an email to [email protected] information about permissions can be found here: https://shop.lww.com/journal-permission.
Disclaimer: Opinions expressed by the authors and advertisers are notnecessarily those of the American Academy of Neurology, its affiliates, or ofthe Publisher. The American Academy of Neurology, its affiliates, and thePublisher disclaim any liability to any party for the accuracy, completeness,efficacy, or availability of the material contained in this publication(including drug dosages) or for any damages arising out of the useor non-use of any of the material contained in this publication.
Advertising Sales Representatives: Wolters Kluwer, 333 Seventh Avenue,New York, NY 10001. Contacts: Eileen Henry, tel: 732-778-2261, fax: 973-215-2485, [email protected] and in Europe: Craig Silver, tel: +447855 062 550 or e-mail: [email protected].
Careers & Events:Monique McLaughlin, Wolters Kluwer, Two CommerceSquare, 2001Market Street, Philadelphia, PA 19103, tel: 215-521-8468, fax: 215-521-8801; [email protected].
Reprints:Meredith Edelman, Commercial Reprint Sales, Wolters Kluwer, TwoCommerce Square, 2001Market Street, Philadelphia, PA 19103, tel: 215-356-2721;[email protected]; [email protected].
Special projects: US & Canada: Alan Moore, Wolters Kluwer, TwoCommerce Square, 2001 Market Street, Philadelphia, PA 19103, tel:215-521-8638, [email protected]. International: AndrewWible, Senior Manager, Rights, Licensing, and Partnerships, Wolters Kluwer;[email protected].
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,MDDavidePareyson,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, PhDSue Leurgans, PhDV. Shane Pankratz, PhD
Classification of Evidence EvaluationsGary S. Gronseth, MD, FAAN
PodcastsStacey L. Clardy, MD, PhDJeffrey B. Ratliff, MD, Deputy Podcast Editor
OmbudsmanDavid S. Knopman, MD, FAAN
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 neurologistsand clinical research scientists withoutstanding peer-reviewed articles,editorials, and reviews to elucidate the roleof genetic and epigenetic variations indiseases and biological traits of the centraland peripheral nervous systems.
EditorialInquiries
Tel: 612-928-6400Toll-free: 800-957-3182 (US)Fax: [email protected]
StayConnected
facebook.com/NeurologyGenetics
twitter.com/greenjournal
youtube.com/user/NeurologyJournal
2019;5; Neurol Genet 5 (3)
This information is current as of January 1, 2019
ServicesUpdated Information &
http://ng.neurology.org/content/5/3.full.htmlincluding high resolution figures, can be found at:
Supplementary Material http://ng.neurology.org/content/suppl/2019/06/21/5.3.DC1
Supplementary material can be found at:
Permissions & Licensing
http://ng.neurology.org/misc/about.xhtml#permissionsits entirety can be found online at:Information about reproducing this article in parts (figures,tables) or in
Reprints
http://ng.neurology.org/misc/addir.xhtml#reprintsusInformation about ordering reprints can be found online:
2376-7839.an open-access, online-only, continuous publication journal. Copyright . All rights reserved. Online ISSN:
is an official journal of the American Academy of Neurology. Published since April 2015, it isNeurol Genet
![University of Groningen Parenting and child psychosocial ...Willem Spijkers Daniëlle E.M.C. Jansen Sijmen A.Reijneveld ^µ u]© 210068-L-bw-Spijkers](https://static.fdocuments.net/doc/165x107/5f87608811849e25390e3380/university-of-groningen-parenting-and-child-psychosocial-willem-spijkers-danille.jpg)
