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There are 12887 results for: content related to: Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

  1. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 4, 15 February 2006, Pages: 392–397, Luis A. Aguirre, Ignacio del Castillo, Alfons Macaya, Carme Medá, Manuela Villamar, Miguel A. Moreno-Pelayo and Felipe Moreno

    Article first published online : 12 JAN 2006, DOI: 10.1002/ajmg.a.31079

  2. The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome

    Movement Disorders

    Volume 27, Issue 8, July 2012, Pages: 1034–1040, Ainhi D. Ha, Kaitlyn L. Parratt, Nanna D. Rendtorff, Marianne Lodahl, Karl Ng, Dominic B. Rowe, Carolyn M. Sue, Michael W. Hayes, Lisbeth Tranebjærg and Victor S.C. Fung

    Article first published online : 26 JUN 2012, DOI: 10.1002/mds.25033

  3. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome

    Annals of Neurology

    Volume 50, Issue 4, October 2001, Pages: 537–540, Russell H. Swerdlow and G. Frederick Wooten

    Article first published online : 10 AUG 2001, DOI: 10.1002/ana.1160

  4. XLMR genes: Update 1998

    American Journal of Medical Genetics

    Volume 83, Issue 4, 2 April 1999, Pages: 237–247, H. Lubs, P. Chiurazzi, J. Arena, C. Schwartz, L. Tranebjaerg and G. Neri

    Article first published online : 24 MAR 1999, DOI: 10.1002/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8

  5. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 795–803, Maja Kojovic, Isabel Pareés, Tania Lampreia, Karolina Pienczk-Reclawowicz, Georgia Xiromerisiou, Ignacio Rubio-Agusti, Milica Kramberger, Miryam Carecchio, Anas M. Alazami, Francesco Brancati, Jaroslaw Slawek, Zvezdan Pirtosek, Enza Maria Valente, Fowzan S. Alkuraya, Mark J. Edwards and Kailash P. Bhatia

    Article first published online : 15 FEB 2013, DOI: 10.1002/mds.25394

  6. Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami Greenwood study

    American Journal of Medical Genetics

    Volume 64, Issue 1, 12 July 1996, Pages: 169–175, H. A. Lubs, C. E. Schwartz, R. E. Stevenson and J. F. Arena

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960712)64:1<169::AID-AJMG29>3.0.CO;2-K

  7. Sex-linked deafness

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 14–23, MB Petersen, Q Wang and PJ Willems

    Article first published online : 14 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00913.x

  8. You have free access to this content
    Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991)

    American Journal of Medical Genetics

    Volume 38, Issue 2-3, 1 February - 1 March 1991, Pages: 173–185, LaVelle M. Spano and John M. Opitz

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320380203

  9. First Report of a Filipino with Mohr-Tranebjaerg Syndrome

    Movement Disorders Clinical Practice

    Johanna Melissa Penamora-Destriza, Aloysius Domingo, Thomas G.P.M. Schmidt, Ana Westenberger, Christine Klein and Raymond Rosales

    Article first published online : 26 AUG 2015, DOI: 10.1002/mdc3.12210

  10. Prevalence of fra(X) in the county of Funen in Denmark is lower than expected

    American Journal of Medical Genetics

    Volume 51, Issue 4, 15 July 1994, Pages: 423–427, L. Tranebjaerg, S. Hilling, J. Jessen, D. Lind and M. S. Hansen

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320510424

  11. X-linked dystonia-deafness syndrome

    Movement Disorders

    Volume 13, Issue 2, March 1998, Pages: 303–308, Michael W. Hayes, Robert A. Ouvrier, William Evans, Ernest Somerville and Professor John G. L. Morris

    Article first published online : 4 NOV 2004, DOI: 10.1002/mds.870130217

  12. Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

    Movement Disorders

    Volume 19, Issue 10, October 2004, Pages: 1241–1243, Stefan H. Kreisel, Johannes Binder, Johannes C. Wöhrle, Joachim K. Krauss, Sabine Hofmann, Matthias F. Bauer, Michael G. Hennerici and Hansjörg Bäzner

    Article first published online : 26 MAY 2004, DOI: 10.1002/mds.20150

  13. You have free access to this content
    The genetic basis of long QT and short QT syndromes: A mutation update

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1486–1511, Paula L. Hedley, Poul Jørgensen, Sarah Schlamowitz, Romilda Wangari, Johanna Moolman-Smook, Paul A. Brink, Jørgen K. Kanters, Valerie A. Corfield and Michael Christiansen

    Article first published online : 14 AUG 2009, DOI: 10.1002/humu.21106

  14. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness

    Pediatric Allergy and Immunology

    Volume 12, Issue 2, April 2001, Pages: 107–111, Darko Richter, Mary Ellen Conley, Jurg Rohrer, Laurie A. Myers, Katarina Zahradka, Jadranka Keleč Ić, Jadranka Sertić and Ana Stavljenić -Rukavina

    Article first published online : 21 DEC 2001, DOI: 10.1034/j.1399-3038.2001.0129999107.x

  15. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1298–1313, Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner-Glindzicz, Sarah B. Emery, Marilyn B. Mets, Toril Fagerheim, Kristina Eriksson, Lars Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgaard, Marci M. Lesperance and Lisbeth Tranebjaerg

    Article first published online : 28 APR 2011, DOI: 10.1002/ajmg.a.33970

  16. Sudden infant death syndrome not caused by Norwegian Jervell and Lange-Nielsen mutations

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 4, 1 May 2005, Pages: 459–460, Marianne Arnestad, Åshild Vege, Torleiv Ole Rognum and Christina Vogt Isaksen

    Article first published online : 9 FEB 2005, DOI: 10.1002/ajmg.a.30614

  17. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 894–905, Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach, Jean-Pierre Fryns, Hanne Rose, Liliana Grozdanova, Ivan Ivanov, Kathelijn Keymolen, Christina Fagerberg, Lisbeth Tranebjaerg, Flemming Skovby and Margarita Stefanova

    Article first published online : 10 APR 2009, DOI: 10.1002/ajmg.a.32814

  18. You have free access to this content
    9th International workshop on Fragile X syndrome and X-linked mental retardation

    American Journal of Medical Genetics

    Volume 94, Issue 5, 23 October 2000, Pages: 345–360, Jean-Pierre Fryns, Martine Borghgraef, Ted W. Brown, Jamel Chelly, Gene S. Fisch, Ben Hamel, André Hanauer, Didier Lacombe, Ligun Luo, James N. MacPherson, Jean-Louis Mandel, Claude Moraine, John Mulley, David Nelson, Ben Oostra, Michael Partington, Ger J.A. Ramakers, Hans-Hilger Ropers, François Rousseau, Charles Schwartz, Peter Steinbach, Claude Stoll, Lisbeth Tranebjaerg, Gillian Turner, Hans Van Bokhoven, Angela Vianna-Morgante, Laurent Villard and Stephen T. Warren

    Article first published online : 19 OCT 2000, DOI: 10.1002/1096-8628(20001023)94:5<345::AID-AJMG1>3.0.CO;2-Z

  19. Beneficial effect of deep brain stimulation of GPi in a patient with dystonia-deafness phenotype

    Movement Disorders

    Volume 24, Issue 3, 15 February 2009, Pages: 465–466, Petra Havránková, Robert Jech, Jan Roth, Dušan Urgošík and Evžen Růžička

    Article first published online : 2 DEC 2008, DOI: 10.1002/mds.22317

  20. XLMR genes: Update 1994

    American Journal of Medical Genetics

    Volume 51, Issue 4, 15 July 1994, Pages: 542–549, Giovanni Neri, Pietro Chiurazzi, J. Fernando Arena and Herbert A. Lubs

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320510451