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There are 505 results for: content related to: Novel mutations in the anoctamin 5 gene ( ANO5 ) associated with limb-girdle muscular dystrophy 2L

  1. You have free access to this content
    First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene

    Neurology and Clinical Neuroscience

    Volume 3, Issue 4, July 2015, Pages: 150–152, Hiroshi Kida, Ken Sano, Akiko Yorita, Shiroh Miura, Mitsuyoshi Ayabe, Yukiko Hayashi, Ichizo Nishino and Takayuki Taniwaki

    Version of Record online : 3 MAR 2015, DOI: 10.1111/ncn3.175

  2. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

    Muscle & Nerve

    Volume 50, Issue 4, October 2014, Pages: 610–613, Rajat Lahoria, Thomas L. Winder, Jie Lui, Mohammed A. Al-Owain and Margherita Milone

    Version of Record online : 30 AUG 2014, DOI: 10.1002/mus.24302

  3. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1111–1118, Anna Sarkozy, Debbie Hicks, Judith Hudson, Steve H. Laval, Rita Barresi, David Hilton-Jones, Marcus Deschauer, Elizabeth Harris, Laura Rufibach, Esther Hwang, Rumaisa Bashir, Maggie C. Walter, Sabine Krause, Peter van den Bergh, Isabel Illa, Isabelle Pénisson-Besnier, Liesbeth De Waele, Doug Turnbull, Michela Guglieri, Bertold Schrank, Benedikt Schoser, Jürgen Seeger, Herbert Schreiber, Dieter Gläser, Michelle Eagle, Geraldine Bailey, Richard Walters, Cheryl Longman, Fiona Norwood, John Winer, Francesco Muntoni, Michael Hanna, Mark Roberts, Laurence A. Bindoff, Charlotte Brierley, Robert G. Cooper, David A. Cottrell, Nick P. Davies, Andrew Gibson, Gráinne S. Gorman, Simon Hammans, Andrew P. Jackson, Aijaz Khan, Russell Lane, John McConville, Meriel McEntagart, Ali Al-Memar, John Nixon, Jay Panicker, Matt Parton, Richard Petty, Christopher J. Price, Wojtek Rakowicz, Partha Ray, Anthony H. Schapira, Robert Swingler, Chris Turner, Kathryn R. Wagner, Paul Maddison, Pamela J. Shaw, Volker Straub, Kate Bushby and Hanns Lochmüller

    Version of Record online : 12 JUN 2013, DOI: 10.1002/humu.22342

  4. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy

    Muscle & Nerve

    Volume 45, Issue 5, May 2012, Pages: 740–742, Joachim Schessl, Wolfram Kress and Benedikt Schoser

    Version of Record online : 12 APR 2012, DOI: 10.1002/mus.23281

  5. ANO5-muscular dystrophy: clinical, pathological and molecular findings

    European Journal of Neurology

    Volume 20, Issue 10, October 2013, Pages: 1383–1389, T. Liewluck, T. L. Winder, E. L. Dimberg, B. A. Crum, C. J. Heppelmann, Y. Wang, H. R. Bergen III and M. Milone

    Version of Record online : 12 MAY 2013, DOI: 10.1111/ene.12191

  6. Aerobic training in patients with anoctamin 5 myopathy and hyperckemia

    Muscle & Nerve

    Volume 50, Issue 1, July 2014, Pages: 119–123, Christoffer R. Vissing, Nicolai Preisler, Edith Husu, Kira P. Prahm and John Vissing

    Version of Record online : 5 MAY 2014, DOI: 10.1002/mus.24112

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    Functions of volume-sensitive and calcium-activated chloride channels

    IUBMB Life

    Volume 66, Issue 4, April 2014, Pages: 257–267, Else Kay Hoffmann, Niels Bjerre Holm and Ian Henry Lambert

    Version of Record online : 28 APR 2014, DOI: 10.1002/iub.1266

  8. You have free access to this content
    Expression and function of epithelial anoctamins

    Experimental Physiology

    Volume 97, Issue 2, February 2012, Pages: 184–192, Karl Kunzelmann, Rainer Schreiber, Arthur Kmit, Walailak Jantarajit, Joana Raquel Martins, Diana Faria, Patthara Kongsuphol, Jiraporn Ousingsawat and Yuemin Tian

    Version of Record online : 13 OCT 2011, DOI: 10.1113/expphysiol.2011.058206

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    Anoctamin/TMEM16 family members are Ca2+-activated Cl channels

    The Journal of Physiology

    Volume 587, Issue 10, May 2009, Pages: 2127–2139, H. Criss Hartzell, Kuai Yu, Qinhuan Xiao, Li-Ting Chien and Zhiqiang Qu

    Version of Record online : 14 MAY 2009, DOI: 10.1113/jphysiol.2008.163709

  10. COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 49–55, A. M. McInerney-Leo, E. L. Duncan, P. J. Leo, B. Gardiner, L. A. Bradbury, J. E. Harris, G. R. Clark, M. A. Brown and A. Zankl

    Version of Record online : 15 AUG 2014, DOI: 10.1111/cge.12440

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    Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

    Journal of Bone and Mineral Research

    Volume 28, Issue 2, February 2013, Pages: 246–259, Harald WA Ehlen, Milana Chinenkova, Markus Moser, Hans-Markus Munter, Yvonne Krause, Stefanie Gross, Bent Brachvogel, Manuela Wuelling, Uwe Kornak and Andrea Vortkamp

    Version of Record online : 15 JAN 2013, DOI: 10.1002/jbmr.1751

  12. A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis

    Journal of Bone and Mineral Research

    Tim Rolvien, Till Koehne, Uwe Kornak, Wolfgang Lehmann, Michael Amling, Thorsten Schinke and Ralf Oheim

    Version of Record online : 9 SEP 2016, DOI: 10.1002/jbmr.2980

  13. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

    European Journal of Neurology

    Volume 20, Issue 6, June 2013, Pages: 968–974, W. H. J. P. Linssen, W. G. de Voogt, M. Krahn, R. Bernard, N. Levy, J. H. J. Wokke, H. B. Ginjaar and M. de Visser

    Version of Record online : 26 MAR 2013, DOI: 10.1111/ene.12129

  14. Sample size considerations in human muscle architecture studies

    Muscle & Nerve

    Volume 45, Issue 5, May 2012, Pages: 743–745, Lori J. Tuttle, Samuel R. Ward and Richard L. Lieber

    Version of Record online : 12 APR 2012, DOI: 10.1002/mus.23283

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    Calcium concentration jumps reveal dynamic ion selectivity of calcium-activated chloride currents in mouse olfactory sensory neurons and TMEM16b-transfected HEK 293T cells

    The Journal of Physiology

    Volume 588, Issue 21, November 2010, Pages: 4189–4204, Claudia Sagheddu, Anna Boccaccio, Michele Dibattista, Giorgia Montani, Roberto Tirindelli and Anna Menini

    Version of Record online : 29 OCT 2010, DOI: 10.1113/jphysiol.2010.194407

  16. LGMD2L with bone affection: Overlapping phenotype of dominant and recessive ANO5-induced disease

    Muscle & Nerve

    Volume 46, Issue 5, November 2012, Pages: 829–830, Nanna Witting, Morten Duno, Alfred Peter Born and John Vissing

    Version of Record online : 10 OCT 2012, DOI: 10.1002/mus.23440

  17. Histopathology of gastrointestinal stromal tumor

    Journal of Surgical Oncology

    Volume 104, Issue 8, 15 December 2011, Pages: 865–873, Markku Miettinen and Jerzy Lasota

    Version of Record online : 8 NOV 2011, DOI: 10.1002/jso.21945

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    A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis

    Arthritis Care & Research

    Volume 66, Issue 2, February 2014, Pages: 328–333, Doris G. Leung, Harold A. Taylor, Amanda S. Lindy, Monica J. Basehore and Andrew L. Mammen

    Version of Record online : 28 JAN 2014, DOI: 10.1002/acr.22156

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    Putative pore-loops of TMEM16/anoctamin channels affect channel density in cell membranes

    The Journal of Physiology

    Volume 591, Issue 14, July 2013, Pages: 3487–3505, Aiste Adomaviciene, Keith J. Smith, Hannah Garnett and Paolo Tammaro

    Version of Record online : 29 MAY 2013, DOI: 10.1113/jphysiol.2013.251660

  20. You have free access to this content
    The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels

    Experimental Physiology

    Volume 97, Issue 2, February 2012, Pages: 177–183, Paolo Scudieri, Elvira Sondo, Loretta Ferrera and Luis J. V. Galietta

    Version of Record online : 11 NOV 2011, DOI: 10.1113/expphysiol.2011.058198