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There are 741187 results for: content related to: Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature

  1. Assessment of myelination in hypomyelinating disorders by quantitative MRI

    Journal of Magnetic Resonance Imaging

    Volume 36, Issue 6, December 2012, Pages: 1329–1338, Steffi F. Dreha-Kulaczewski, Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner and G. Helms

    Version of Record online : 21 AUG 2012, DOI: 10.1002/jmri.23774

  2. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 203–207, Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, Shin Nabatame, Takeshi Okinaga, Akira Murakami, Noriko Miyake, Naomichi Matsumoto, Hitoshi Osaka, Keiko Hojo, Reiko Tomita, Masako Taniike and Keiichi Ozono

    Version of Record online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35686

  3. Novel organotypic in vitro slice culture model for intraventricular hemorrhage of premature infants

    Journal of Neuroscience Research

    Volume 90, Issue 11, November 2012, Pages: 2173–2182, Govindaiah Vinukonda, Furong Hu, Chirag Upreti, Zoltan Ungvari, Muhammad T. Zia, Patric K. Stanton and Praveen Ballabh

    Version of Record online : 17 JUL 2012, DOI: 10.1002/jnr.23102

  4. Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 293–304, A. Charzewska, J. Wierzba, E. Iżycka-Świeszewska, M. Bekiesińska-Figatowska, M. Jurek, A. Gintowt, A. Kłosowska, J. Bal and D. Hoffman-Zacharska

    Version of Record online : 17 JUN 2016, DOI: 10.1111/cge.12811

  5. You have free access to this content
    Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

    Annals of Human Genetics

    Volume 76, Issue 3, May 2012, Pages: 261–267, Patricia Combes, Vincent Planche, Eléonore Eymard-Pierre, Catherine Sarret, Diana Rodriguez, Odile Boespflug-Tanguy and Catherine Vaurs-Barriere

    Version of Record online : 20 FEB 2012, DOI: 10.1111/j.1469-1809.2011.00702.x

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    Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

    Epilepsia

    Volume 53, Issue 6, June 2012, Pages: e106–e110, Karin Writzl, Zvonka Rener Primec, Barbara Gnidovec Stražišar, Damjan Osredkar, Nuška Pečarič-Meglič, Branka Stirn Kranjc, Kiyomi Nishiyama, Naomichi Matsumoto and Hirotomo Saitsu

    Version of Record online : 16 MAR 2012, DOI: 10.1111/j.1528-1167.2012.03437.x

  7. Mutations in RARS cause hypomyelination

    Annals of Neurology

    Volume 76, Issue 1, July 2014, Pages: 134–139, Nicole I. Wolf, Gajja S. Salomons, Richard J. Rodenburg, Petra J. W. Pouwels, Jolanda H. Schieving, Terry G. J. Derks, Johanna M. Fock, Patrick Rump, Daphne M. van Beek, Marjo S. van der Knaap and Quinten Waisfisz

    Version of Record online : 16 MAY 2014, DOI: 10.1002/ana.24167

  8. Assessment of myelination in hypomyelinating disorders by quantitative MRI

    Journal of Magnetic Resonance Imaging

    Volume 36, Issue 6, December 2012, Page: spcone, Steffi F. Dreha-Kulaczewski, Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner and G. Helms

    Version of Record online : 16 NOV 2012, DOI: 10.1002/jmri.23557

  9. Supranuclear gaze palsy in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1833–1834, Elke Peeters, Peter Vanacker, Mark Woodhall, Angela Vincent, Maarten Schrooten and Wim Vandenberghe

    Version of Record online : 5 NOV 2012, DOI: 10.1002/mds.25239

  10. Phenotypic characterization of hypomyelination and congenital cataract

    Annals of Neurology

    Volume 62, Issue 2, August 2007, Pages: 121–127, Roberta Biancheri, Federico Zara, Claudio Bruno, Andrea Rossi, Laura Bordo, Elisabetta Gazzerro, Federica Sotgia, Marina Pedemonte, Sara Scapolan, Massimo Bado, Graziella Uziel, Marianna Bugiani, Laura Doria Lamba, Valeria Costa, Angelo Schenone, Annemieke J. M. Rozemuller, Paolo Tortori-Donati, Michael P. Lisanti, Marjo S. van der Knaap and Carlo Minetti

    Version of Record online : 7 AUG 2007, DOI: 10.1002/ana.21175

  11. You have full text access to this OnlineOpen article
    Hypomyelinating leukodystrophies: Translational research progress and prospects

    Annals of Neurology

    Volume 76, Issue 1, July 2014, Pages: 5–19, Petra J. W. Pouwels, Adeline Vanderver, Genevieve Bernard, Nicole I. Wolf, Steffi F. Dreha-Kulczewksi, Sean C. L. Deoni, Enrico Bertini, Alfried Kohlschütter, William Richardson, Charles ffrench-Constant, Wolfgang Köhler, David Rowitch and A. James Barkovich

    Version of Record online : 24 JUN 2014, DOI: 10.1002/ana.24194

  12. Demyelinating prenatal and infantile developmental neuropathies

    Journal of the Peripheral Nervous System

    Volume 17, Issue 1, March 2012, Pages: 32–52, Eppie M. Yiu and Monique M. Ryan

    Version of Record online : 28 MAR 2012, DOI: 10.1111/j.1529-8027.2012.00379.x

  13. You have full text access to this Open Access content
    A Novel Spongiform Leukoencephalomyelopathy in Border Terrier Puppies

    Journal of Veterinary Internal Medicine

    Volume 26, Issue 2, March-April 2012, Pages: 402–406, P. Martin-Vaquero, R.C. da Costa, J.K. Simmons, G.L. Beamer, K.H. Jäderlund and M.J. Oglesbee

    Version of Record online : 23 JAN 2012, DOI: 10.1111/j.1939-1676.2011.00873.x

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    Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia

    Developmental Medicine & Child Neurology

    Volume 55, Issue 2, February 2013, Pages: 167–172, YURIKA NUMATA, AKIRA ONUMA, YASUKO KOBAYASHI, IKUKO SATO-SHIRAI, SOICHIRO TANAKA, SATORU KOBAYASHI, KEISUKE WAKUSAWA, TAKEHIKO INUI, SHIGEO KURE and KAZUHIRO HAGINOYA

    Version of Record online : 1 NOV 2012, DOI: 10.1111/dmcn.12013

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    Egr-1: new conductor for the tissue repair orchestra directs harmony (regeneration) or cacophony (fibrosis)

    The Journal of Pathology

    Volume 229, Issue 2, January 2013, Pages: 286–297, Swati Bhattacharyya, Feng Fang, Warren Tourtellotte and John Varga

    Version of Record online : 3 DEC 2012, DOI: 10.1002/path.4131

  16. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1207–1215, Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodoulou, Stephen G. Kaler and Jutta Gärtner

    Version of Record online : 16 MAY 2012, DOI: 10.1002/humu.22099

  17. You have full text access to this OnlineOpen article
    Altered PLP1 splicing causes hypomyelination of early myelinating structures

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 6, June 2015, Pages: 648–661, Sietske H. Kevelam, Jennifer R. Taube, Rosalina M. L. van Spaendonk, Enrico Bertini, Karen Sperle, Mark Tarnopolsky, Davide Tonduti, Enza Maria Valente, Lorena Travaglini, Erik A. Sistermans, Geneviève Bernard, Coriene E. Catsman-Berrevoets, Clara D. M. van Karnebeek, John R. Østergaard, Richard L. Friederich, Mahmoud Fawzi Elsaid, Jolanda H. Schieving, Maja Tarailo-Graovac, Simona Orcesi, Marjan E. Steenweg, Carola G. M. van Berkel, Quinten Waisfisz, Truus E. M. Abbink, Marjo S. van der Knaap, Grace M. Hobson and Nicole I. Wolf

    Version of Record online : 1 MAY 2015, DOI: 10.1002/acn3.203

  18. You have full text access to this OnlineOpen article
    Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1829–1830, Maja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, Anirban Saha, Jose Bras, Vaneesha Gibbons, Rodger Palmer, Henry Houlden, John Hardy, Nicholas W. Wood and Kailash P. Bhatia

    Version of Record online : 2 JAN 2013, DOI: 10.1002/mds.25199

  19. You have full text access to this OnlineOpen article
    Neuron-oligodendrocyte myelination co-culture derived from embryonic rat spinal cord and cerebral cortex

    Brain and Behavior

    Volume 2, Issue 1, January 2012, Pages: 53–67, Yi Pang, Baoying Zheng, Simpson L. Kimberly, Zhengwei Cai, Philip G. Rhodes and Rick C. S. Lin

    Version of Record online : 30 JAN 2012, DOI: 10.1002/brb3.33

  20. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

    Movement Disorders

    Volume 30, Issue 6, May 2015, Pages: 828–833, Roberto Erro, Joshua Hersheson, Christos Ganos, Niccoló E. Mencacci, Maria Stamelou, Amit Batla, Stefanie Catherine Thust, Jose M. Bras, Rita J. Guerreiro, John Hardy, Niall P. Quinn, Henry Houlden and Kailash P. Bhatia

    Version of Record online : 27 DEC 2014, DOI: 10.1002/mds.26129