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There are 16970 results for: content related to: Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

  1. You have free access to this content
    A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice

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    Volume 13, Issue 6, June 2012, Pages: 869–879, Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvaël Fraysse, Laura Briñas, Bernard Prudhon, Josiane Castells, Damien Freyssenet, Gisèle Bonne, Pascale Guicheney and Marc Bitoun

    Version of Record online : 3 APR 2012, DOI: 10.1111/j.1600-0854.2012.01348.x

  2. Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: 1419–1427, Marc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, Jorge A. Bevilacqua, Adrien Herledan, Vehary Sakanyan, Andoni Urtizberea, Luis Cartier, Norma B. Romero and Pascale Guicheney

    Version of Record online : 7 JUL 2009, DOI: 10.1002/humu.21086

  3. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 741–747, Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, Valerie Biancalana, J. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Amaya, John Trounce, Jocelyn Laporte, Shehla Mohammed, Caroline Sewry, Julian Raiman and Heinz Jungbluth

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33296

  4. Respiratory assessment in centronuclear myopathies

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 315–326, Barbara K. Smith, Melissa Goddard and Martin K. Childers

    Version of Record online : 5 AUG 2014, DOI: 10.1002/mus.24249

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    Family with centronuclear myopathy as a result of a novel p.R369G DNM2 mutation

    Neurology and Clinical Neuroscience

    Volume 3, Issue 4, July 2015, Pages: 161–162, Keiko Toyooka, Kumiko Kubo, Harutoshi Fujimura, Sabro Sakoda, Kayo Tominaga and Ichizo Nishino

    Version of Record online : 3 MAR 2015, DOI: 10.1111/ncn3.176

  6. Centronuclear Myopathies

    Muscle Disease: Pathology and Genetics, Second edition

    Norma Beatriz Romero, Jocelyn Laporte, Pages: 134–144, 2013

    Published Online : 8 JUL 2013, DOI: 10.1002/9781118635469.ch13

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    Dynamin-2 in nervous system disorders

    Journal of Neurochemistry

    Volume 128, Issue 2, January 2014, Pages: 210–223, Arlek M. González-Jamett, Valentina Haro-Acuña, Fanny Momboisse, Pablo Caviedes, Jorge A. Bevilacqua and Ana M. Cárdenas

    Version of Record online : 23 OCT 2013, DOI: 10.1111/jnc.12455

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    Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy

    Neurology and Clinical Neuroscience

    Volume 3, Issue 4, July 2015, Pages: 131–133, Yuko Kawasaki, Ichiro Naba, Shingo Azuma, Keiko Yaka, Masayuki Moriya, Misa Nakano, Ichizo Nishino and Chikao Tatsumi

    Version of Record online : 29 JAN 2015, DOI: 10.1111/ncn3.162

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    Common Membrane Trafficking Defects of Disease-Associated Dynamin 2 Mutations

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    Volume 12, Issue 11, November 2011, Pages: 1620–1633, Ya-Wen Liu, Vasyl Lukiyanchuk and Sandra L. Schmid

    Version of Record online : 5 AUG 2011, DOI: 10.1111/j.1600-0854.2011.01250.x

  10. A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2002–2011, Jill A. Fahrner, Raymond Liu, Michael Scott Perry, Jessica Klein and David C. Chan

    Version of Record online : 4 MAY 2016, DOI: 10.1002/ajmg.a.37721

  11. ECEL1 mutation causes fetal arthrogryposis multiplex congenita

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 731–743, N. Dohrn, V.Q. Le, A. Petersen, P. Skovbo, I.S. Pedersen, A. Ernst, H. Krarup and M.B. Petersen

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.37018

  12. RYR1 mutations are a common cause of congenital myopathies with central nuclei

    Annals of Neurology

    Volume 68, Issue 5, November 2010, Pages: 717–726, J.M. Wilmshurst, S. Lillis, H. Zhou, K. Pillay, H. Henderson, W. Kress, C.R. Müller, A. Ndondo, V. Cloke, T. Cullup, E. Bertini, C. Boennemann, V. Straub, R. Quinlivan, J.J. Dowling, S. Al- Sarraj, S. Treves, S. Abbs, A.Y. Manzur, C.A. Sewry, F. Muntoni and H. Jungbluth

    Version of Record online : 13 SEP 2010, DOI: 10.1002/ana.22119

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    Dnm3os, a non-coding RNA, is required for normal growth and skeletal development in mice

    Developmental Dynamics

    Volume 237, Issue 12, December 2008, Pages: 3738–3748, Tokumitsu Watanabe, Takahiro Sato, Tomokazu Amano, Yumiko Kawamura, Naohiro Kawamura, Hiroshi Kawaguchi, Naohide Yamashita, Hiroki Kurihara and Takashi Nakaoka

    Version of Record online : 4 NOV 2008, DOI: 10.1002/dvdy.21787

  14. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

    Annals of Neurology

    Volume 62, Issue 6, December 2007, Pages: 666–670, Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B. Romero and Pascale Guicheney

    Version of Record online : 11 OCT 2007, DOI: 10.1002/ana.21235

  15. You have full text access to this OnlineOpen article
    N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

    EMBO Molecular Medicine

    Volume 6, Issue 11, November 2014, Pages: 1455–1475, Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet-Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte and Edgar R Gomes

    Version of Record online : 29 SEP 2014, DOI: 10.15252/emmm.201404436

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    Membrane Traffic and Muscle: Lessons from Human Disease

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    Volume 9, Issue 7, July 2008, Pages: 1035–1043, James J. Dowling, Elizabeth M. Gibbs and Eva L. Feldman

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1600-0854.2008.00716.x

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    Age-dependent expression of DNMT1 and DNMT3B in PBMCs from a large European population enrolled in the MARK-AGE study

    Aging Cell

    Volume 15, Issue 4, August 2016, Pages: 755–765, Fabio Ciccarone, Marco Malavolta, Roberta Calabrese, Tiziana Guastafierro, Maria Giulia Bacalini, Anna Reale, Claudio Franceschi, Miriam Capri, Antti Hervonen, Mikko Hurme, Beatrix Grubeck-Loebenstein, Bernhard Koller, Jürgen Bernhardt, Christiane Schӧn, P. Eline Slagboom, Olivier Toussaint, Ewa Sikora, Efstathios S. Gonos, Nicolle Breusing, Tilman Grune, Eugène Jansen, Martijn Dollé, María Moreno-Villanueva, Thilo Sindlinger, Alexander Bürkle, Michele Zampieri and Paola Caiafa

    Version of Record online : 11 MAY 2016, DOI: 10.1111/acel.12485

  18. You have full text access to this OnlineOpen article
    Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

    Human Mutation

    Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, Paola Goffrini and Daniele Ghezzi

    Version of Record online : 11 JUL 2016, DOI: 10.1002/humu.23033

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    Dynamin-Dependent Biogenesis, Cell Cycle Regulation and Mitochondrial Association of Peroxisomes in Fission Yeast

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    Volume 9, Issue 3, March 2008, Pages: 353–365, Isabelle Jourdain, Dharani Sontam, Chad Johnson, Clément Dillies and Jeremy S. Hyams

    Version of Record online : 10 DEC 2007, DOI: 10.1111/j.1600-0854.2007.00685.x

  20. DNA methylation plays a crucial role during early Nasonia development

    Insect Molecular Biology

    Volume 21, Issue 1, February 2012, Pages: 129–138, M. V. Zwier, E. C. Verhulst, R. D. Zwahlen, L. W. Beukeboom and L. van de Zande

    Version of Record online : 28 NOV 2011, DOI: 10.1111/j.1365-2583.2011.01121.x