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There are 30574 results for: content related to: Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A

  1. You have free access to this content
    Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction

    Genes to Cells

    Volume 19, Issue 11, November 2014, Pages: 830–841, Koichi Ojima, Yasuko Ono, Shoji Hata, Satoru Noguchi, Ichizo Nishino and Hiroyuki Sorimachi

    Version of Record online : 23 SEP 2014, DOI: 10.1111/gtc.12181

  2. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

    Muscle & Nerve

    Volume 33, Issue 3, March 2006, Pages: 424–432, Markéta Hermanová, Eva Zapletalová, Jana Sedláčková, Táňa Chrobáková, Ondřej Letocha, Iva Kroupová, Josef Zámečník, Petr Vondráček, Radim Mazanec, Taťána Maříková, Stanislav Voháňka and Lenka Fajkusová

    Version of Record online : 21 DEC 2005, DOI: 10.1002/mus.20480

  3. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

    Muscle & Nerve

    Volume 52, Issue 2, August 2015, Pages: 163–173, Marina Fanin and Corrado Angelini

    Version of Record online : 29 MAY 2015, DOI: 10.1002/mus.24682

  4. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Version of Record online : 7 AUG 2013, DOI: 10.1002/humu.22379

  5. Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

    Human Mutation

    Volume 24, Issue 1, July 2004, Pages: 52–62, M. Fanin, L. Fulizio, A.C. Nascimbeni, M. Spinazzi, G. Piluso, V.M. Ventriglia, G. Ruzza, G. Siciliano, C.P. Trevisan, L. Politano, V. Nigro and C. Angelini

    Version of Record online : 27 MAY 2004, DOI: 10.1002/humu.20058

  6. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

    Clinical Genetics

    Volume 72, Issue 6, December 2007, Pages: 582–592, M Krahn, C Pécheux, F Chapon, C Béroud, V Drouin-Garraud, P Laforet, NB Romero, I Penisson-Besnier, R Bernard, JA Urtizberea, F Leturcq and N Lévy

    Version of Record online : 1 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00906.x

  7. CAPN3 mutations in patients with idiopathic eosinophilic myositis

    Annals of Neurology

    Volume 59, Issue 6, June 2006, Pages: 905–911, Martin Krahn, Adolfo Lopez De Munain, Nathalie Streichenberger, Rafaëlle Bernard, Christophe Pécheux, Hervé Testard, José L. Pena-Segura, Eugenia Yoldi, Ana Cabello, Norma B. Romero, Juan J. Poza, Sandrine Bouillot-Eimer, Xavier Ferrer, Maria Goicoechea, Federico Garcia-Bragado, France Leturcq, J. Andoni Urtizberea and Nicolas Lévy

    Version of Record online : 10 APR 2006, DOI: 10.1002/ana.20833

  8. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 2, 1 March 2004, Pages: 152–156, Nina Canki-Klain, Astrid Milic, Biserka Kovac, Anuska Trlaja, Damir Grgicevic, Niko Zurak, Michel Fardeau, France Leturcq, Jean-Claude Kaplan, J. Andoni Urtizberea, Luisa Politano, Giulio Piluso and Josue Feingold

    Version of Record online : 14 JUL 2003, DOI: 10.1002/ajmg.a.20408

  9. MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B

    Cell Biochemistry and Function

    Volume 34, Issue 6, August 2016, Pages: 414–422, M. Aguennouz, C. Lo Giudice, N. Licata, C. Rodolico, O. Musumeci, M. Fanin, A. Migliorato, M. Ragusa, V. Macaione, R. M. Di Giorgio, C. Angelini and A. Toscano

    Version of Record online : 25 AUG 2016, DOI: 10.1002/cbf.3202

  10. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

    American Journal of Medical Genetics

    Volume 82, Issue 5, 19 February 1999, Pages: 392–398, Maria Rita Passos-Bueno, Mariz Vainzof, Eloisa S. Moreira and Mayana Zatz

    Version of Record online : 19 FEB 1999, DOI: 10.1002/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0

  11. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 448–453, Oihane Jaka, Margarita Azpitarte, Coro Paisán-Ruiz, Miren Zulaika, Leire Casas-Fraile, Raúl Sanz, Nathalie Trevisiol, Nicolas Levy, Marc Bartoli, Martin Krahn, Adolfo López de Munain and Amets Sáenz

    Version of Record online : 5 AUG 2014, DOI: 10.1002/mus.24263

  12. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

    Muscle & Nerve

    Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Giorgio Tasca, Enzo Ricci, Mauro Monforte, Monica Sciacco, Chiara Fiorillo, Sandra Gandossini, Carlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin and Giacomo Pietro Comi

    Version of Record online : 28 OCT 2016, DOI: 10.1002/mus.25192

  13. Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

    PROTEOMICS

    Volume 6, Issue 22, No. 22 November 2006, Pages: 6075–6084, Niaz Cohen, Elena Kudryashova, Irina Kramerova, Louise V. B. Anderson, Jacques S. Beckmann, Katherine Bushby and Melissa J. Spencer

    Version of Record online : 19 OCT 2006, DOI: 10.1002/pmic.200600199

  14. You have free access to this content
    Early onset calpainopathy with normal non-functional calpain 3 level

    Developmental Medicine & Child Neurology

    Volume 48, Issue 4, April 2006, Pages: 304–306, R Lanzillo, S Aurino, M Fanin, M Aguennoz, F Vitale;, C Fiorillo, E Del Giudice, V Nigro and L Santoro

    Version of Record online : 2 MAR 2007, DOI: 10.1017/S001216220600065X

  15. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

    Human Mutation

    Volume 29, Issue 2, February 2008, Pages: 258–266, Michela Guglieri, Francesca Magri, Maria Grazia D'Angelo, Alessandro Prelle, Lucia Morandi, Carmelo Rodolico, Rachele Cagliani, Marina Mora, Francesco Fortunato, Andreina Bordoni, Roberto Del Bo, Serena Ghezzi, Serena Pagliarani, Sabrina Lucchiari, Sabrina Salani, Chiara Zecca, Costanza Lamperti, Dario Ronchi, Mohammed Aguennouz, Patrizia Ciscato, Claudia Di Blasi, Alessandra Ruggieri, Isabella Moroni, Anna Turconi, Antonio Toscano, Maurizio Moggio, Nereo Bresolin and Giacomo P. Comi

    Version of Record online : 9 NOV 2007, DOI: 10.1002/humu.20642

  16. 550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A—clinically misdiagnosed cases

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 399–400, Bilyana Georgieva, Albena Todorova, Ivailo Tournev, Vanyo Mitev, Panagiotis Plageras and Ivo Kremensky

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30809

  17. Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective

    Muscle & Nerve

    Volume 47, Issue 6, June 2013, Pages: 931–937, Arunkanth Ankala, Jordan N. Kohn, Rashna Dastur, Pradnya Gaitonde, Satish V. Khadilkar and Madhuri R. Hegde

    Version of Record online : 10 MAY 2013, DOI: 10.1002/mus.23763

  18. Clinical and pathological features in 15 Chinese patients with calpainopathy

    Muscle & Nerve

    Volume 43, Issue 3, March 2011, Pages: 402–409, Su-Shan Luo, Jian-Ying Xi, Jia-Hong Lu, Chong-Bo Zhao, Wen-Hua Zhu, Jie Lin, Yin Wang, Hui-Min Ren, Bo Yin and Urtizberea J. Andoni

    Version of Record online : 9 DEC 2010, DOI: 10.1002/mus.21908

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    Transcriptional and translational effects of intronic CAPN3 gene mutations

    Human Mutation

    Volume 31, Issue 9, September 2010, Pages: E1658–E1669, Anna Chiara Nascimbeni, Marina Fanin, Elisabetta Tasca and Corrado Angelini

    Version of Record online : 15 JUL 2010, DOI: 10.1002/humu.21320

  20. Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

    Muscle & Nerve

    Volume 44, Issue 5, November 2011, Pages: 710–714, Amets Sáenz, Yasuko Ono, Hiroyuki Sorimachi, Maria Goicoechea, France Leturcq, Lorea Blázquez, Federico García-Bragado, Alberto Marina, Juan José Poza, Margarita Azpitarte, Naoko Doi, Miguel Urtasun, Jean-Claude Kaplan and Adolfo López De Munain

    Version of Record online : 17 OCT 2011, DOI: 10.1002/mus.22194