Search Results

There are 19356 results for: content related to: WDR45 mutations define a novel disease entity—Static Encephalopathy of Childhood with Neurodegeneration in Adulthood

  1. You have full text access to this OnlineOpen article
    A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2388–2390, Tadashi Ozawa, Reiji Koide, Yasuhiro Nakata, Hirotomo Saitsu, Naomichi Matsumoto, Kazushi Takahashi, Imaharu Nakano and Satoshi Orimo

    Version of Record online : 10 JUL 2014, DOI: 10.1002/ajmg.a.36635

  2. Autophagy and neurodegeneration — genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link

    Movement Disorders

    Volume 28, Issue 8, July 2013, Page: 1050, Darius Ebrahimi-Fakhari

    Version of Record online : 12 AUG 2013, DOI: 10.1002/mds.25563

  3. You have free access to this content
    Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 170, Issue 2, February 2016, Pages: 322–328, Kyoko Takano, Naoko Shiba, Keiko Wakui, Tomomi Yamaguchi, Noriko Aida, Yuji Inaba, Yoshimitsu Fukushima and Tomoki Kosho

    Version of Record online : 20 OCT 2015, DOI: 10.1002/ajmg.a.37432

  4. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

    Movement Disorders

    Volume 29, Issue 4, April 2014, Pages: 574–575, Geetanjali S. Rathore, Christian P. Schaaf and Amber J. Stocco

    Version of Record online : 7 MAR 2014, DOI: 10.1002/mds.25868

  5. Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis

    Journal of Neuroimaging

    Volume 25, Issue 4, July/August 2015, Pages: 539–551, Lázaro L. F. Amaral, Santhosh Gaddikeri, Philip R. Chapman, Rasmoni Roy, Ramya S. Gaddikeri, Victor Hugo Marussi and Asim K. Bag

    Version of Record online : 24 DEC 2014, DOI: 10.1111/jon.12195

  6. Early manifestations of BPAN in a pediatric patient

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3095–3099, Nobuhiko Okamoto, Tae Ikeda, Tatsuji Hasegawa, Yuto Yamamoto, Kazumi Kawato, Tomohiro Komoto and Issei Imoto

    Version of Record online : 26 SEP 2014, DOI: 10.1002/ajmg.a.36779

  7. Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report

    Movement Disorders Clinical Practice

    Volume 2, Issue 2, June 2015, Pages: 190–191, Shumpei Uchino, Hirotomo Saitsu, Satoko Kumada, Yasuhiro Nakata and Naomichi Matsumoto

    Version of Record online : 30 MAR 2015, DOI: 10.1002/mdc3.12158

  8. Neurodegenerative disorder with brain iron accumulation previously known as SENDA syndrome now genetically determined

    Movement Disorders

    Volume 28, Issue 8, July 2013, Pages: 1051–1052, Petr Dusek and Susanne A. Schneider

    Version of Record online : 18 JUL 2013, DOI: 10.1002/mds.25424

  9. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1021–1028, Julia Vodopiutz, Rainer Seidl, Daniela Prayer, M. Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M. S. Mancini, Carolin E. Sadowski, Nicolas Lévy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas R. Janecke and Martin Zenker

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22828

  10. De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1708–1714, Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto and Hirotomo Saitsu

    Version of Record online : 15 OCT 2013, DOI: 10.1002/humu.22446

  11. First video report of static encephalopathy of childhood with neurodegeneration in adulthood

    Movement Disorders

    Volume 28, Issue 3, March 2013, Pages: 397–399, Emi Kasai-Yoshida, Satoko Kumada, Akira Yagishita, Konomi Shimoda, Ikuko Sato-Shirai, Yasuo Hachiya and Eiji Kurihara

    Version of Record online : 6 FEB 2013, DOI: 10.1002/mds.25158

  12. You have free access to this content
    Phosphoinositide 3-kinases as accelerators and brakes of autophagy

    The FEBS Journal

    Volume 280, Issue 24, December 2013, Pages: 6322–6337, Fergal O′Farrell, Tor E. Rusten and Harald Stenmark

    Version of Record online : 5 SEP 2013, DOI: 10.1111/febs.12486

  13. Benign Epilepsy of Childhood with Rolandic Spikes, or a Lesion? EEG During a Seizure

    Epilepsia

    Volume 16, Issue 5, December 1975, Pages: 793–796, G. Ambrosetto and G. Gobbi

    Version of Record online : 5 NOV 2007, DOI: 10.1111/j.1528-1157.1975.tb04767.x

  14. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Version of Record online : 23 JUL 2013, DOI: 10.1111/cge.12225

  15. You have free access to this content
    The Benign Occipital Epilepsies of Childhood: An Overview of the Idiopathic Syndromes and of the Relationship to Migraine

    Epilepsia

    Volume 39, Issue s4, April 1998, Pages: S9–S23, Frederick Andermann and Benjamin Zifkin

    Version of Record online : 5 NOV 2007, DOI: 10.1111/j.1528-1157.1998.tb05129.x

  16. Sleep Studies in Benign Epilepsy of Childhood with Rolandic Spikes. II. Analysis of Discharge Frequency and Its Relation to Sleep Dynamics

    Epilepsia

    Volume 28, Issue 1, February 1987, Pages: 24–27, Béla Clemens and Erzsébet Majoros

    Version of Record online : 5 NOV 2007, DOI: 10.1111/j.1528-1157.1987.tb03617.x

  17. SIOP 2015 Scientific Programme + Index

    Pediatric Blood & Cancer

    Volume 62, Issue S4, November 2015, Pages: S143–S418,

    Version of Record online : 9 SEP 2015, DOI: 10.1002/pbc.25715

  18. Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

    Movement Disorders

    Volume 27, Issue 1, January 2012, Pages: 42–53, Susanne A. Schneider, John Hardy and Kailash P. Bhatia

    Version of Record online : 26 OCT 2011, DOI: 10.1002/mds.23971

  19. Parietal and Occipital Lobe Epilepsy: A Review

    Epilepsia

    Volume 34, Issue 3, May 1993, Pages: 493–521, S. Sveinbjornsdottir and J. S. Duncan

    Version of Record online : 28 OCT 2005, DOI: 10.1111/j.1528-1157.1993.tb02590.x

  20. You have free access to this content
    Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

    Epilepsia

    Volume 54, Issue 7, July 2013, Pages: 1282–1287, Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Taku Nakagawa, Takanari FujII, Kenji Sugai, Kaoru Imai, Tami Uster, David Chitayat, Shelly Weiss, Hirofumi Kashii, Ryosuke Kusano, Ayumi Matsumoto, Kazuyuki Nakamura, Yoshinobu Oyazato, Mari Maeno, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kayoko Saito, Kiyoshi Hayasaka, Naomichi Matsumoto and Hirotomo Saitsu

    Version of Record online : 26 APR 2013, DOI: 10.1111/epi.12200