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There are 7781115 results for: content related to: Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

  1. Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients

    Muscle & Nerve

    Volume 43, Issue 4, April 2011, Pages: 574–577, Espen Homleid Alseth, Angelina Hatlø Maniaol, Ahmed Elsais, Hanne Linda Nakkestad, Chantal Tallaksen, Nils Erik Gilhus and Geir Olve Skeie

    Version of Record online : 8 FEB 2011, DOI: 10.1002/mus.21919

  2. Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1474–1484, Angela Abicht, Marina Dusl, Constanze Gallenmüller, Velina Guergueltcheva, Ulrike Schara, Adele Della Marina, Eva Wibbeler, Sybille Almaras, Violeta Mihaylova, Maja von der Hagen, Angela Huebner, Amina Chaouch, Juliane S. Müller and Hanns Lochmüller

    Version of Record online : 27 JUN 2012, DOI: 10.1002/humu.22130

  3. Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction

    Annals of the New York Academy of Sciences

    Volume 1132, Issue 1, June 2008, Pages: 99–103, David Beeson, Richard Webster, Judith Cossins, Daniel Lashley, Hayley Spearman, Susan Maxwell, Clarke R. Slater, John Newsom-Davis, Jacqueline Palace and Angela Vincent

    Version of Record online : 28 JUN 2008, DOI: 10.1196/annals.1405.049

  4. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering

    Muscle & Nerve

    Volume 28, Issue 3, September 2003, Pages: 293–301, Ricardo A. Maselli, Vanessa Dunne, Samuel Ignacio Pascual-Pascual, Constance Bowe, Mark Agius, Rochelle Frank and Robert L. Wollmann

    Version of Record online : 10 JUL 2003, DOI: 10.1002/mus.10433

  5. Synaptic dysfunction in congenital myasthenic syndromes

    Annals of the New York Academy of Sciences

    Volume 1275, Issue 1, December 2012, Pages: 63–69, David Beeson

    Version of Record online : 20 DEC 2012, DOI: 10.1111/nyas.12000

  6. Blends of polycarbonate and polysulphone–polydimethyl–siloxane block copolymers: analysis of compatibility and impact strength

    Journal of Applied Polymer Science

    Volume 73, Issue 10, 6 September 1999, Pages: 1823–1834, S. S. Pesetskii, B. Jurkowski, I. P. Storozcuk and V. N. Koval

    Version of Record online : 18 JUN 1999, DOI: 10.1002/(SICI)1097-4628(19990906)73:10<1823::AID-APP1>3.0.CO;2-7

  7. Usefulness of a new indicator test for the diagnosis of peripheral and autonomic neuropathy in patients with diabetes mellitus

    Diabetic Medicine

    Volume 24, Issue 12, December 2007, Pages: 1375–1380, S. Liatis, K. Marinou, N. Tentolouris, S. Pagoni and N. Katsilambros

    Version of Record online : 17 OCT 2007, DOI: 10.1111/j.1464-5491.2007.02280.x

  8. Critical Review of Resident Assessment Protocols

    Journal of the American Geriatrics Society

    Volume 54, Issue 4, April 2006, Pages: 659–666, David Dosa, Barbara Bowers and David R. Gifford

    Version of Record online : 20 FEB 2006, DOI: 10.1111/j.1532-5415.2006.00654.x

  9. Late presentations of congenital myasthenic syndromes: How many do we miss?

    Muscle & Nerve

    Nidhi Garg, Con Yiannikas, Todd A. Hardy, Katsiaryna Belaya, Jonathan Cheung, David Beeson and Stephen W. Reddel

    Version of Record online : 9 JUL 2016, DOI: 10.1002/mus.25085

  10. Evidence for an Association between Human Acetylcholine Receptor and Rapsyn

    Annals of the New York Academy of Sciences

    Volume 841, Issue 1, May 1998, Pages: 14–16, ALEXANDRA BUCKEL, ESTHER JAMES, LESLIE JACOBSON, JEIKE BIEWENGA, DAVID BEESON and ANGELA VINCENT

    Version of Record online : 7 FEB 2006, DOI: 10.1111/j.1749-6632.1998.tb10906.x

  11. Attention Felons: Evaluating Project Safe Neighborhoods in Chicago

    Journal of Empirical Legal Studies

    Volume 4, Issue 2, July 2007, Pages: 223–272, Andrew V. Papachristos, Tracey L. Meares and Jeffrey Fagan

    Version of Record online : 18 JUN 2007, DOI: 10.1111/j.1740-1461.2007.00096.x

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    Molecular dynamics simulations of the Ras:Raf and Rap:Raf complexes

    Proteins: Structure, Function, and Bioinformatics

    Volume 35, Issue 1, 1 April 1999, Pages: 89–100, Jun Zeng, Herbert R. Treutlein and Thomas Simonson

    Version of Record online : 21 SEP 1999, DOI: 10.1002/(SICI)1097-0134(19990401)35:1<89::AID-PROT9>3.0.CO;2-S

  13. Evaluating Florida's Medicaid Provider Services Network Demonstration

    Health Services Research

    Volume 43, Issue 1p2, February 2008, Pages: 384–400, R. Paul Duncan, Christy H. Lemak, W. Bruce Vogel, Christopher E. Johnson, Allyson G. Hall and Colleen K. Porter

    Version of Record online : 16 AUG 2007, DOI: 10.1111/j.1475-6773.2007.00768.x

  14. Prevalence and clinicopathologic findings of antiphospholipid syndrome nephropathy in Thai systemic lupus erythematosus patients who underwent renal biopsies

    Nephrology

    Volume 12, Issue 5, October 2007, Pages: 474–480, BOONYARIT CHEUNSUCHON, PIMPATTANA RUNGKAEW, RATANA CHAWANASUNTORAPOJ, ANIRUT PATTARAGARN and PAISAL PARICHATIKANOND

    Version of Record online : 10 MAY 2007, DOI: 10.1111/j.1440-1797.2007.00792.x

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    A fail-safe system for the ribosome under zinc-limiting conditions in Bacillus subtilis

    Molecular Microbiology

    Volume 63, Issue 1, January 2007, Pages: 294–307, Yousuke Natori, Hideaki Nanamiya, Genki Akanuma, Saori Kosono, Toshiaki Kudo, Kozo Ochi and Fujio Kawamura

    Version of Record online : 9 NOV 2006, DOI: 10.1111/j.1365-2958.2006.05513.x

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    Increased ratio of rapsyn to ACh receptor stabilizes postsynaptic receptors at the mouse neuromuscular synapse

    The Journal of Physiology

    Volume 562, Issue 3, February 2005, Pages: 673–685, Othon L. Gervásio and William D. Phillips

    Version of Record online : 20 JAN 2005, DOI: 10.1113/jphysiol.2004.077685

  17. Congenital Myasthenic Syndromes: Multiple Molecular Targets at the Neuromuscular Junction

    Annals of the New York Academy of Sciences

    Volume 998, Issue 1, September 2003, Pages: 138–160, ANDREW G. ENGEL, KINJI OHNO, XIN-MING SHEN and STEVEN M. SINE

    Version of Record online : 24 JAN 2006, DOI: 10.1196/annals.1254.016

  18. Alterations in ciliary neurotrophic factor signaling in rapsyn deficient mice

    Journal of Neuroscience Research

    Volume 64, Issue 6, 15 June 2001, Pages: 575–581, Selena E. Bartlett, Glen B. Banks, Anna J. Reynolds, Mike J. Waters, Ian A. Hendry and Peter G. Noakes

    Version of Record online : 1 JUN 2001, DOI: 10.1002/jnr.1109

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    Rapsyn Variants in Ciliary Ganglia and Their Possible Effects on Clustering of Nicotinic Receptors

    Journal of Neurochemistry

    Volume 73, Issue 4, October 1999, Pages: 1399–1408, William G. Conroy and Darwin K. Berg

    Version of Record online : 17 JAN 2002, DOI: 10.1046/j.1471-4159.1999.0731399.x

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    Assembly and clustering of acetylcholine receptors containing GFP-tagged ε or γ subunits

    European Journal of Biochemistry

    Volume 268, Issue 8, April 2001, Pages: 2209–2217, Sven Gensler, Andreas Sander, Alon Korngreen, Giovanna Traina, Günther Giese and Veit Witzemann

    Version of Record online : 20 DEC 2001, DOI: 10.1046/j.1432-1327.2001.02093.x