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There are 43977 results for: content related to: Limb Girdle Muscular Dystrophies

  1. The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis

    Muscle & Nerve

    Accepted manuscript online: 17 MAY 2016, 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

    DOI: 10.1002/mus.25192

  2. 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

  3. 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

  4. Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C

    Neuropathology and Applied Neurobiology

    Volume 25, Issue 3, June 1999, Pages: 244–253, Hassoni and Cullen

    Version of Record online : 4 JAN 2002, DOI: 10.1046/j.1365-2990.1999.00169.x

  5. Limb Girdle Muscular Dystrophies

    European Handbook of Neurological Management

    F. Norwood, M. de Visser, B. Eymard, H. Lochmüller, K. Bushby, Pages: 376–385, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753279.ch26

  6. Sarcoglycans in muscular dystrophy

    Microscopy Research and Technique

    Volume 48, Issue 3-4, 1 - 15 February 2000, Pages: 167–180, Andrew A. Hack, Margaret E. Groh and Elizabeth M. McNally

    Version of Record online : 1 FEB 2000, DOI: 10.1002/(SICI)1097-0029(20000201/15)48:3/4<167::AID-JEMT5>3.0.CO;2-T

  7. Limb–Girdle Dystrophies

    Neuromuscular Disorders

    Michela Guglieri, Kate Bushby, Pages: 57–73, 2011

    Published Online : 6 SEP 2011, DOI: 10.1002/9781119973331.ch8

  8. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

    Annals of Neurology

    Volume 42, Issue 2, August 1997, Pages: 222–229, Pervin Dincer, France Leturcq, Isabelle Richard, Federica Piccolo, Dilek Yalnizoàlu, Claudia De Toma, Zuhal Akçören, Odile Broux, Nathalie Deburgrave, Lydie Brenguier, Carinne Roudaut, J. Andoni Urtizberea, Daniel Jung, Ersin Tan, Marc Jeanpierre, Kevin P. Campbell, Jean-Claude Kaplan, Jacques S. Beckmann and Prof Haluk Topaloàlu

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410420214

  9. You have full text access to this OnlineOpen article
    A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 2, March 2015, Pages: 92–98, Samiah A. Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q. Rosales, Ana Maria Gomez, Sarah Lewis, Sayaka Hashimoto, Julie Gastier-Foster, Peter Kang, Basil Darras, Louis Kunkel, Jose Carlo, Zarife Sahenk, Steven A. Moore, Robert Pyatt and Jerry R. Mendell

    Version of Record online : 8 JAN 2015, DOI: 10.1002/mgg3.125

  10. Molecular Genetics of Limb-Girdle Muscular Dystrophies

    Standard Article

    eLS

    Massimiliano Filosto, Mauro Scarpelli and Alessandro Padovani

    Published Online : 14 MAY 2015, DOI: 10.1002/9780470015902.a0022407

  11. Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

    Muscle & Nerve

    Volume 21, Issue 5, May 1998, Pages: 584–590, A.J. van der Kooi, H.B. Ginjaar, H.F.M. Busch, J.H.J. Wokke, P.G. Barth and M. de Visser

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4598(199805)21:5<584::AID-MUS4>3.0.CO;2-4

  12. Molecular basis of muscular dystrophies

    Muscle & Nerve

    Volume 23, Issue 10, October 2000, Pages: 1456–1471, Ronald D. Cohn and Kevin P. Campbell

    Version of Record online : 20 SEP 2000, DOI: 10.1002/1097-4598(200010)23:10<1456::AID-MUS2>3.0.CO;2-T

  13. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb–girdle muscular dystrophies

    Annals of Neurology

    Volume 48, Issue 6, December 2000, Pages: 902–912, Federica Piccolo, Steven A. Moore, Gwendolyn C. Ford and Kevin P. Campbell

    Version of Record online : 23 MAR 2001, DOI: 10.1002/1531-8249(200012)48:6<902::AID-ANA11>3.0.CO;2-Z

  14. Mutations in the caveolin-3 gene: When are they pathogenic?

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 303–307, Flavia de Paula, Mariz Vainzof, Andrea L.F. Bernardino, Elizabeth McNally, Louis M. Kunkel and Mayana Zatz

    Version of Record online : 21 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1168>3.0.CO;2-O

  15. A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt

    Muscle & Nerve

    Accepted manuscript online: 2 MAR 2016, Hemakumar M. Reddy, Sherifa A. Hamed, Monkol Lek, Satomi Mitsuhashi, Elicia Estrella, Michael D. Jones, Lane J. Mahoney, Anna R. Duncan, Kyungah Cho, Daniel G. MacArthur, Louis M. Kunkel and Peter B. Kang

    DOI: 10.1002/mus.25094

  16. C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community

    Clinical Genetics

    Volume 66, Issue 5, November 2004, Pages: 467–472, B Georgieva, A Todorova, I Tournev, V Mitev and I Kremensky

    Version of Record online : 21 SEP 2004, DOI: 10.1111/j.1399-0004.2004.00335.x

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    High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia

    Human Mutation

    Volume 15, Issue 3, March 2000, Page: 295, T.V. Pogoda, I.N. Krakhmaleva, N.A. Lipatova, N.I. Shakhovskaya, S.S. Shishkin and S.A. Limborska

    Version of Record online : 10 FEB 2000, DOI: 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU15>3.0.CO;2-8

  18. Prenatal diagnosis of limb-girdle muscular dystrophy type 2C

    Prenatal Diagnosis

    Volume 18, Issue 12, December 1998, Pages: 1300–1303, P. Dinçer, F. Piccolo, F. Leturcq, J. C. Kaplan, M. Jeanpierre and H. Topaloǧlu

    Version of Record online : 4 MAY 1999, DOI: 10.1002/(SICI)1097-0223(199812)18:12<1300::AID-PD436>3.0.CO;2-H

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    Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

    FEBS Letters

    Volume 381, Issue 1-2, February 26, 1996, Pages: 15–20, Daniel Jung, France Leturcq, Yoshihide Sunada, Franck Duclos, Fernando M.S. Tomé, Carolyn Moomaw, Luciano Merlini, Kemal Azibi, Malika Chaouch, Clive Slaughter, Michel Fardeau, Jean-Claude Kaplan and Kevin P. Campbell

    Version of Record online : 30 NOV 1999, DOI: 10.1016/0014-5793(96)00056-7

  20. You have free access to this content
    EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

    European Journal of Neurology

    Volume 14, Issue 12, December 2007, Pages: 1305–1312, F. Norwood, M. De Visser, B. Eymard, H. Lochmüller and K. Bushby

    Version of Record online : 15 NOV 2007, DOI: 10.1111/j.1468-1331.2007.01979.x