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There are 22650 results for: content related to: Inherited neuromuscular disorders: Pathway to diagnosis

  1. Congenital myopathies

    Muscle & Nerve

    Volume 17, Issue 2, February 1994, Pages: 131–144, John B. Bodensteiner

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880170202

  2. American Association of Neuromuscular & Electrodiagnostic Medicine: Annual Meeting Abstracts, New Orleans, Louisiana Ⴠ September 14–17, 2016

    Muscle & Nerve

    Volume 54, Issue 3, September 2016, Pages: 524–652,

    Version of Record online : 16 AUG 2016, DOI: 10.1002/mus.25265

  3. Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth

    American Journal of Medical Genetics

    Volume 94, Issue 1, 4 September 2000, Pages: 68–74, Herbert H. Pomerance, Enid Gilbert-Barness, Maria Gieron-Korthals, Atilano G. Lacson, John Barnes and Raymond Fernandez

    Version of Record online : 6 SEP 2000, DOI: 10.1002/1096-8628(20000904)94:1<68::AID-AJMG14>3.0.CO;2-Z

  4. You have full text access to this OnlineOpen article
    Treating pediatric neuromuscular disorders: The future is now

    American Journal of Medical Genetics Part A

    James J. Dowling, Hernan D. Gonorazky, Ronald D. Cohn and Craig Campbell

    Version of Record online : 10 SEP 2017, DOI: 10.1002/ajmg.a.38418

  5. Familial mixed congenital myopathy with rigid spine phenotype

    Muscle & Nerve

    Volume 20, Issue 4, April 1997, Pages: 411–417, Heinz Reichmann, Hans H. Goebel, Christiane Schneider and Klaus V. Toyka

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4598(199704)20:4<411::AID-MUS2>3.0.CO;2-D

  6. Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

    Muscle & Nerve

    Volume 51, Issue 5, May 2015, Pages: 767–772, Jonathan D. Marra, Kristin E. Engelstad, Arunkanth Ankala, Kurenai Tanji, Jahannaz Dastgir, Darryl C. De Vivo, Bradford Coffee and Claudia A. Chiriboga

    Version of Record online : 17 FEB 2015, DOI: 10.1002/mus.24528

  7. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  8. You have free access to this content
    Myopathology in times of modern imaging

    Neuropathology and Applied Neurobiology

    Volume 43, Issue 1, February 2017, Pages: 24–43, H. Jungbluth

    Version of Record online : 15 MAR 2017, DOI: 10.1111/nan.12385

  9. Multi-minicore disease–searching for boundaries: Phenotype analysis of 38 cases

    Annals of Neurology

    Volume 48, Issue 5, November 2000, Pages: 745–757, Ana Ferreiro, Brigitte Estournet, Danielle Chateau, Norma B. Romero, Cécile Laroche, Sylvie Odent, Annick Toutain, Ana Cabello, Daniel Fontan, Heloísa G. Dos Santos, Charles-Antoine Haenggeli, Enrico Bertini, Jon-Andoni Urtizberea, Pascale Guicheney and Michel Fardeau

    Version of Record online : 4 APR 2001, DOI: 10.1002/1531-8249(200011)48:5<745::AID-ANA8>3.0.CO;2-F

  10. You have free access to this content
    Abstracts

    Developmental Medicine & Child Neurology

    Volume 54, Issue s4, June 2012, Pages: 5–212,

    Version of Record online : 7 MAY 2012, DOI: 10.1111/j.1469-8749.2012.04283.x

  11. 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

  12. Prevalence of congenital myopathies in a representative pediatric united states population

    Annals of Neurology

    Volume 70, Issue 4, October 2011, Pages: 662–665, Kimberly Amburgey, Nancy McNamara, Lindsey R. Bennett, M. Eileen McCormick, Gyula Acsadi and James J. Dowling

    Version of Record online : 25 OCT 2011, DOI: 10.1002/ana.22510

  13. You have free access to this content
    Congenital myopathies – a comprehensive update of recent advancements

    Acta Neurologica Scandinavica

    Volume 119, Issue 5, May 2009, Pages: 281–292, M. C. Sharma, D. Jain, C. Sarkar and H. H. Goebel

    Version of Record online : 30 DEC 2008, DOI: 10.1111/j.1600-0404.2008.01126.x

  14. A Case of Congenital Myopathy without Specific Features

    Pediatrics International

    Volume 29, Issue 3, June 1987, Pages: 455–460, Nobutada Tachi, Shizue Hosoya, Mutsuko Watanabe, Shuji Wakai and Ryoji Minami

    Version of Record online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1987.tb00345.x

  15. Congenital myopathies at their molecular dawning

    Muscle & Nerve

    Volume 27, Issue 5, May 2003, Pages: 527–548, Hans H. Goebel

    Version of Record online : 4 MAR 2003, DOI: 10.1002/mus.10322

  16. Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3–p25.3

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2508–2515, Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, Alireza Tavasoli, Paul P. Van Veldhoven, Carine Bonnard, Yeng Ting Ng, Charles B. Majoie, Bruno Reversade and Raoul C. Hennekam

    Version of Record online : 20 JUL 2015, DOI: 10.1002/ajmg.a.37248

  17. Congenital Disorders of the Muscle

    International Neurology: A Clinical Approach

    Robert P. Lisak, Daniel D. Truong, William M. Carroll, Roongroj Bhidayasiri, Pages: 457–460, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444317008.ch120

  18. EMG evaluation of the floppy infant: Differential diagnosis and technical aspects

    Muscle & Nerve

    Volume 13, Issue 4, April 1990, Pages: 338–347, Dr. H. Royden Jones Jr

    Version of Record online : 13 OCT 2004, DOI: 10.1002/mus.880130410

  19. Congenital Myopathies

    Pediatrics International

    Volume 33, Issue 2, April 1991, Pages: 247–255, Hans Hilmar Goebel

    Version of Record online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1991.tb01550.x

  20. RYR1-related myopathies: a wide spectrum of phenotypes throughout life

    European Journal of Neurology

    Volume 22, Issue 7, July 2015, Pages: 1094–1112, M. Snoeck, B. G. M. van Engelen, B. Küsters, M. Lammens, R. Meijer, J. P. F. Molenaar, J. Raaphorst, C. C. Verschuuren-Bemelmans, C. S. M. Straathof, L. T. L. Sie, I. F. de Coo, W. L. van der Pol, M. de Visser, H. Scheffer, S. Treves, H. Jungbluth, N. C. Voermans and E.-J. Kamsteeg

    Version of Record online : 11 MAY 2015, DOI: 10.1111/ene.12713