Search Results

There are 8080468 results for: content related to: An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

  1. 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

  2. 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

  3. Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A

    Muscle & Nerve

    Volume 46, Issue 5, November 2012, Pages: 723–729, Su-Shan Luo, Jian-Ying Xi, Wen-Hua Zhu, Chong-Bo Zhao, Jia-Hong Lu, Jie Lin, Yin Wang, Jun Lu and Kai Qiao

    Version of Record online : 24 AUG 2012, DOI: 10.1002/mus.23381

  4. You have free access to this content
    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

  5. 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

  6. 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

  7. Index to Volume 7

    Journal of the Royal Anthropological Institute

    Volume 7, Issue 4, December 2001, Pages: 831–841,

    Version of Record online : 20 DEC 2002, DOI: 10.1111/1467-9655.00094

  8. Letters to the Editor

    Dermatologic Surgery

    Volume 25, Issue 3, March 1999, Pages: 256–258,

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1524-4725.1999.025003256.x

  9. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

    Clinical Genetics

    Volume 82, Issue 3, September 2012, Pages: 232–239, M Fanin, A Anichini, D Cassandrini, C Fiorillo, S Scapolan, C Minetti, M Cassanello, MA Donati, G Siciliano, A D'Amico, F Lilliu, C Bruno and C Angelini

    Version of Record online : 12 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01786.x

  10. Books Received

    Journal of the Royal Anthropological Institute

    Volume 7, Issue 1, March 2001, Pages: 203–206,

    Version of Record online : 28 JUN 2008, DOI: 10.1111/1467-9655.00058

  11. You have free access to this content
    Autologous stem cell transplantation for anaplastic large-cell lymphomas: results of a prospective trial

    British Journal of Haematology

    Volume 109, Issue 4, June 2000, Pages: 736–742, E. Deconinck, T. Lamy, C. Foussard, F. Gaillard, V. Delwail, P. Colombat, P. Casassus, A. Lemevel, A. Brion, N. Milpied and for the Groupe Ouest-est d'Etude des Leucémies et Autres Maladies du Sang (GOELAMS)

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2141.2000.02098.x

  12. Notice

    Nephrology

    Volume 6, Issue 1, February 2001, Page: 45,

    Version of Record online : 7 JUL 2008, DOI: 10.1046/j.1440-1797.2001.00024.x

  13. 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

  14. Contents

    Congenital Anomalies

    Volume 44, Issue 4, December 2004, Pages: J56–J57,

    Version of Record online : 3 DEC 2004, DOI: 10.1111/j.1741-4520.2004.00051.x

  15. Culture and Psychiatric Education

    Australasian Psychiatry

    Volume 8, Issue 3, September 2000, Pages: 204–206, I. Harry Minas

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1440-1665.2000.0266c.x

  16. You have free access to this content
    Index

    Clinical Genetics

    Volume 64, Issue 6, December 2003, Page: no,

    Version of Record online : 18 NOV 2003, DOI: 10.1046/j.1399-0004.2003.v64_i6_index.x

  17. Tropical Logging and Human Invasions

    Conservation Biology

    Volume 15, Issue 1, February 2001, Pages: 4–5,

    Version of Record online : 18 JUL 2008, DOI: 10.1111/j.1523-1739.2001.00_11-2.x

  18. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques

    Neuropathology

    Volume 28, Issue 3, June 2008, Pages: 264–268, Hanna K. Kolski, Cynthia Hawkins, Mayana Zatz, Flavia De Paula, Doug Biggar, Ben Alman and Jiri Vajsar

    Version of Record online : 20 NOV 2007, DOI: 10.1111/j.1440-1789.2007.00871.x

  19. Book Reviews

    Journal of Nursing Management

    Volume 8, Issue 4, July 2000, Pages: 251–254,

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1365-2834.2000.008004251.x

  20. You have free access to this content
    Book Reviews

    BJU International

    Volume 85, Issue 7, May 2000, Page: 975, W.G. Robertson

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1464-410x.2000.085007975.x