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There are 1429687 results for: content related to: The Startle syndrome

  1. Glycine receptor mouse mutants: model systems for human hyperekplexia

    British Journal of Pharmacology

    Volume 170, Issue 5, November 2013, Pages: 933–952, Natascha Schaefer, Georg Langlhofer, Christoph J Kluck and Carmen Villmann

    Article first published online : 15 OCT 2013, DOI: 10.1111/bph.12335

  2. Major and minor form of hereditary hyperekplexia

    Movement Disorders

    Volume 17, Issue 4, July/August 2002, Pages: 826–830, Marina A.J. Tijssen, Monique N. Vergouwe, J. Gert van Dijk, Michelle Rees, Rune R. Frants and Peter Brown

    Article first published online : 29 MAR 2002, DOI: 10.1002/mds.10168

  3. Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene

    Movement Disorders

    Volume 18, Issue 12, December 2003, Pages: 1538–1541, Marina A.J. Tijssen, Peter Brown, David MacManus, Mary A. McLean and Charles Davie

    Article first published online : 17 SEP 2003, DOI: 10.1002/mds.10613

  4. Functional characterization of compound heterozygosity for GlyRα1 mutations in the startle disease hyperekplexia

    European Journal of Neuroscience

    Volume 16, Issue 2, July 2002, Pages: 186–196, Ruth Rea, Marina A. Tijssen, Colin Herd, Rune R. Frants and Dimitri M. Kullmann

    Article first published online : 9 AUG 2002, DOI: 10.1046/j.1460-9568.2002.02054.x

  5. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

    Annals of Neurology

    Volume 46, Issue 4, October 1999, Pages: 634–638, M. N. Vergouwe, M. A. J. Tijssen, A. C. B. Peters, R. Wielaard and R. R. Frants

    Article first published online : 17 MAY 2001, DOI: 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9

  6. Other Jerks and Startles

    Hyperkinetic Movement Disorders: Differential Diagnosis and Treatment

    Codrin Lungu, Mark Hallett, Pages: 236–256, 2012

    Published Online : 24 FEB 2012, DOI: 10.1002/9781444346183.ch16

  7. Hyperekplexia in the first year of life

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1293–1296, Marina A. J. Koning-Tijssen and O. F. Brouwer

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1293::AID-MDS1047>3.0.CO;2-K

  8. Physiological abnormalities in hereditary hyperekplexia

    Annals of Neurology

    Volume 32, Issue 1, July 1992, Pages: 41–50, Joseph Matsumoto, Peter Fuh, Michael Nigro and Dr. Mark Hallett

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410320108

  9. Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

    Movement Disorders

    Volume 20, Issue 12, December 2005, Pages: 1626–1629, Eliecer Coto, Daniel Armenta, Raúl Espinosa, Joaquín Argente, Mónica G. Castro and Victoria Alvarez

    Article first published online : 2 AUG 2005, DOI: 10.1002/mds.20637

  10. Trigeminally induced startle in children with hyperekplexia

    Movement Disorders

    Volume 20, Issue 4, April 2005, Pages: 484–489, Katsuhiko Oguro, Keiko Hirano and Hideo Aiba

    Article first published online : 6 DEC 2004, DOI: 10.1002/mds.20333

  11. Mutational analysis of familial and sporadic hyperekplexia

    Annals of Neurology

    Volume 38, Issue 1, July 1995, Pages: 85–91, Dr Rita Shiang, Stephen G. Ryan, Ya-Zhen Zhu, Thomas J. Fielder, Richard J. Allen, Alan Fryer, Sumimasa Yamashita, Peter O'Connell and John J. Wasmuth

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410380115

  12. You have free access to this content
    Corticospinal transmission to leg motoneurones in human subjects with deficient glycinergic inhibition

    The Journal of Physiology

    Volume 544, Issue 2, October 2002, Pages: 631–640, J. B. Nielsen, M. A. J. Tijssen, N. L. Hansen, C. Crone, N. T. Petersen, P. Brown, J. G. Van Dijk and J. C. Rothwell

    Article first published online : 22 JUL 2004, DOI: 10.1113/jphysiol.22.024091

  13. You have free access to this content
    Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway

    British Journal of Pharmacology

    Volume 165, Issue 7, April 2012, Pages: 2113–2123, Qiang Shan, Lu Han and Joseph W Lynch

    Article first published online : 9 MAR 2012, DOI: 10.1111/j.1476-5381.2011.01701.x

  14. Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia

    Movement Disorders

    Volume 23, Issue 4, 15 March 2008, Pages: 610–613, Hoon-Chul Kang, Su Jeong You, Myung Jae Chey, Jong Sam Baik, Jong-Won Kim and Chang-Seok Ki

    Article first published online : 3 JAN 2008, DOI: 10.1002/mds.21909

  15. Milestones in myoclonus

    Movement Disorders

    Volume 26, Issue 6, May 2011, Pages: 1142–1148, Hiroshi Shibasaki and Philip D. Thompson

    Article first published online : 27 MAY 2011, DOI: 10.1002/mds.23673

  16. Bilateral inguinal hernia repair in a child with hyperekplexia

    Pediatric Anesthesia

    Volume 17, Issue 11, November 2007, Pages: 1099–1101, BRIAN EPPRIGHT and JAMES F MAYHEW

    Article first published online : 25 SEP 2007, DOI: 10.1111/j.1460-9592.2007.02326.x

  17. Can intravenous immunoglobulin improve antibody-mediated botulinum toxin therapy failure?

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1279–1281, Dirk Dressler, Uwe Zettl, Reiner Benecke and Hans Bigalke

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1279::AID-MDS1040>3.0.CO;2-4

  18. Modafinil treatment of pramipexole-associated somnolence

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1269–1271, Robert A. Hauser, Mervat N. Wahba, Theresa A. Zesiewicz and W. McDowell Anderson

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1269::AID-MDS1036>3.0.CO;2-R

  19. Lack of association between cytochrome P450 2E1 gene polymorphisms and Parkinson's disease in a Chinese population

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1267–1269, Jian Wang, Zhuolin Liu and Piu Chan

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1267::AID-MDS1035>3.0.CO;2-W

  20. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1282–1284, Maria Teresa Dotti, Carla Battisti, Alessandro Malandrini, Antonio Federico, Justin P. Rubio, Giuseppe Circiarello and Anthony P. Monaco

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO;2-2