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There are 7345 results for: content related to: Novel mutation in GLRB in a large family with hereditary hyperekplexia

  1. You have free access to this content
    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. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

    Developmental Medicine & Child Neurology

    Volume 57, Issue 4, April 2015, Pages: 372–377, Jun Mine, Takeshi Taketani, Kazushi Yoshida, Fusako Yokochi, Junpei Kobayashi, Koichi Maruyama, Etsuro Nanishi, Mayumi Ono, Atsushi Yokoyama, Hidee Arai, Shiho Tamaura, Yasuhiro Suzuki, Shusuke Otsubo, Takashi Hayashi, Masahiko Kimura, Kazuko Kishi and Seiji Yamaguchi

    Article first published online : 30 OCT 2014, DOI: 10.1111/dmcn.12617

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. Neuroacanthocytosis presenting as Parkinsonism

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1271–1273, S. Bostantjopoulou, Z. Katsarou, A. Kazis and C. Vadikolia

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1271::AID-MDS1037>3.0.CO;2-T

  9. The Startle syndrome

    Movement Disorders

    Volume 17, Issue S2, 31 January 2002, Pages: S79–S82, Peter Brown

    Article first published online : 30 JAN 2002, DOI: 10.1002/mds.10066

  10. 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

  11. Persistence of rhythmic movement disorder beyond childhood: A videotape demonstration

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1296–1298, Svenja Happe, Peter Lüdemann and E. Bernd Ringelstein

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1296::AID-MDS1048>3.0.CO;2-E

  12. 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

  13. 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

  14. Treatment of persistent hemiballism with botulinum toxin type A

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1281–1282, D. Dressler, M. Wittstock and R. Benecke

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1218::AID-MDS1041>3.0.CO;2-K

  15. 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

  16. 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

  17. Nicotine-sensitive writer's cramp

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1276–1279, Nagako Murase, Ryuji Kaji, Takashi Sakamoto, Hineki Shimazu, Shinnichi Matumoto, Nobuo Kohar, Hiroshi Shibasaki and Jun Kimura

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1276::AID-MDS1039>3.0.CO;2-I

  18. Startle Disease of Hyperekplexia

    Developmental Medicine & Child Neurology

    Volume 35, Issue 11, November 1993, Pages: 1015–1018, Neil Gordon

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1993.tb11585.x

  19. 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

  20. Radiation-induced ‘Meige Syndrome’

    Movement Disorders

    Volume 15, Issue 6, November 2000, Pages: 1287–1288, Stacey K. Jankelowitz and Paul D. Clouston

    Article first published online : 17 JAN 2001, DOI: 10.1002/1531-8257(200011)15:6<1287::AID-MDS1045>3.0.CO;2-P