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There are 5526 results for: content related to: Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa

  1. A large animal model of spinal muscular atrophy and correction of phenotype

    Annals of Neurology

    Volume 77, Issue 3, March 2015, Pages: 399–414, Sandra I. Duque, W. David Arnold, Philipp Odermatt, Xiaohui Li, Paul N. Porensky, Leah Schmelzer, Kathrin Meyer, Stephen J. Kolb, Daniel Schümperli, Brian K. Kaspar and Arthur H. M. Burghes

    Version of Record online : 9 FEB 2015, DOI: 10.1002/ana.24332

  2. Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

    Annals of Neurology

    Volume 79, Issue 2, February 2016, Pages: 217–230, Eilidh Somers, Robert D. Lees, Katie Hoban, James N. Sleigh, Haiyan Zhou, Francesco Muntoni, Kevin Talbot, Thomas H. Gillingwater and Simon H. Parson

    Version of Record online : 13 JAN 2016, DOI: 10.1002/ana.24549

  3. Spinal muscular atrophy: Development and implementation of potential treatments

    Annals of Neurology

    Volume 74, Issue 3, September 2013, Pages: 348–362, W. David Arnold and Arthur H. M. Burghes

    Version of Record online : 9 OCT 2013, DOI: 10.1002/ana.23995

  4. You have free access to this content
    Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

    Annals of Human Genetics

    Volume 77, Issue 5, September 2013, Pages: 435–463, Dian K. Nurputra, Poh San Lai, Nur Imma F. Harahap, Satoru Morikawa, Tomoto Yamamoto, Noriyuki Nishimura, Yuji Kubo, Atsuko Takeuchi, Toshio Saito, Yasuhiro Takeshima, Yumi Tohyama, Stacey KH Tay, Poh Sim Low, Kayoko Saito and Hisahide Nishio

    Version of Record online : 23 JUL 2013, DOI: 10.1111/ahg.12031

  5. Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches

    Unit

    Current Protocols in Human Genetics

    9:9.27.1–9.27.13

    Thomas W. Prior and Narasimhan Nagan

    Published Online : 1 JAN 2016, DOI: 10.1002/0471142905.hg0927s88

  6. You have full text access to this OnlineOpen article
    SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

    Human Mutation

    Volume 32, Issue 2, February 2011, Pages: 220–230, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, Johan Palmfeldt, Henriette Skovgaard Andersen, Niels Gregersen and Brage Storstein Andresen

    Version of Record online : 25 JAN 2011, DOI: 10.1002/humu.21419

  7. QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons

    Journal of Neuroscience Research

    Volume 85, Issue 12, September 2007, Pages: 2657–2667, Honglai Zhang, Lei Xing, Robert H. Singer and Gary J. Bassell

    Version of Record online : 23 APR 2007, DOI: 10.1002/jnr.21308

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    Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: An animal model for therapeutic studies

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 2268–2278, Monique A. Lorson, Lee D. Spate, Randall S. Prather and Christian L. Lorson

    Version of Record online : 23 JUL 2008, DOI: 10.1002/dvdy.21642

  9. Spinal muscular atrophy: Recent advances and future prospects

    Muscle & Nerve

    Volume 26, Issue 1, July 2002, Pages: 4–13, Sophie Nicole, Carmen Cifuentes Diaz, Tony Frugier and Judith Melki

    Version of Record online : 15 APR 2002, DOI: 10.1002/mus.10110

  10. You have full text access to this OnlineOpen article
    A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 2, July 2013, Pages: 113–117, Susan M. Kirwin, Kathy M. B. Vinette, Iris L. Gonzalez, Hind Al Abdulwahed, Nouriya Al-Sannaa and Vicky L. Funanage

    Version of Record online : 30 MAY 2013, DOI: 10.1002/mgg3.10

  11. Energy Failure

    Annals of Neurology

    Volume 74, Issue 4, October 2013, Pages: 506–516, Divya Pathak, Amandine Berthet and Ken Nakamura

    Version of Record online : 26 NOV 2013, DOI: 10.1002/ana.24014

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    The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

    The EMBO Journal

    Volume 29, Issue 7, April 7, 2010, Pages: 1235–1247, Simona Pedrotti, Pamela Bielli, Maria Paola Paronetto, Fabiola Ciccosanti, Gian Maria Fimia, Stefan Stamm, James L Manley and Claudio Sette

    Version of Record online : 25 FEB 2010, DOI: 10.1038/emboj.2010.19

  13. Brain–computer interface boosts motor imagery practice during stroke recovery

    Annals of Neurology

    Volume 77, Issue 5, May 2015, Pages: 851–865, Floriana Pichiorri, Giovanni Morone, Manuela Petti, Jlenia Toppi, Iolanda Pisotta, Marco Molinari, Stefano Paolucci, Maurizio Inghilleri, Laura Astolfi, Febo Cincotti and Donatella Mattia

    Version of Record online : 27 MAR 2015, DOI: 10.1002/ana.24390

  14. You have full text access to this OnlineOpen article
    Cell-surface central nervous system autoantibodies: Clinical relevance and emerging paradigms

    Annals of Neurology

    Volume 76, Issue 2, August 2014, Pages: 168–184, Sarosh R. Irani, Jeffrey M. Gelfand, Adam Al-Diwani and Angela Vincent

    Version of Record online : 10 JUL 2014, DOI: 10.1002/ana.24200

  15. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy

    Pediatrics International

    Volume 50, Issue 3, June 2008, Pages: 346–351, Van Khanh Tran, 1 Teguh Haryo Sasongko, 2 Dang Diem Hong, 4 Nguyen Thi Hoan, 3 Vu Chi Dung, 3 Myeong Jin Lee, 2 , 2 Yasuhiro Takeshima, 1 Masafumi Matsuo and 1 Hisahide Nishio 2

    Version of Record online : 29 MAY 2008, DOI: 10.1111/j.1442-200X.2008.02590.x

  16. Developing therapies for spinal muscular atrophy

    Annals of the New York Academy of Sciences

    Volume 1366, Issue 1, February 2016, Pages: 5–19, Mary H. Wertz and Mustafa Sahin

    Version of Record online : 14 JUL 2015, DOI: 10.1111/nyas.12813

  17. SMN in spinal muscular atrophy and snRNP biogenesis

    Wiley Interdisciplinary Reviews: RNA

    Volume 2, Issue 4, July/August 2011, Pages: 546–564, Tristan H. Coady and Christian L. Lorson

    Version of Record online : 17 FEB 2011, DOI: 10.1002/wrna.76

  18. Leigh syndrome: One disorder, more than 75 monogenic causes

    Annals of Neurology

    Volume 79, Issue 2, February 2016, Pages: 190–203, Nicole J. Lake, Alison G. Compton, Shamima Rahman and David R. Thorburn

    Version of Record online : 15 DEC 2015, DOI: 10.1002/ana.24551

  19. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis

    ELECTROPHORESIS

    Volume 31, Issue 14, July 2010, Pages: 2396–2404, Chun-Chi Wang, Jan-Gowth Chang, Yen-Ling Chen, Yuh-Jyh Jong and Shou-Mei Wu

    Version of Record online : 16 JUN 2010, DOI: 10.1002/elps.201000124

  20. Genetic risk assessment in carrier testing for spinal muscular atrophy

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 301–307, Shuji Ogino, Debra G.B. Leonard, Hanna Rennert, Warren J. Ewens and Robert B. Wilson

    Version of Record online : 17 MAY 2002, DOI: 10.1002/ajmg.10425