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There are 105522 results for: content related to: A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

  1. Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus

    Movement Disorders

    Volume 25, Issue 4, 15 March 2010, Pages: 514–516, Kathleen L. Poston, Robert A. McGovern, Jill S. Goldman, Elise Caccappolo and Pietro Mazzoni

    Article first published online : 8 JAN 2010, DOI: 10.1002/mds.22929

  2. Unilateral thalamic stimulation safely improved fragile X–associated tremor ataxia: A case report

    Movement Disorders

    Volume 27, Issue 6, May 2012, Pages: 797–799, Suhan Senova, Béchir Jarraya, Hiro Iwamuro, Naoki Tani, Naoufel Ouerchefani, Hélène Lepetit, Jean-Marc Gurruchaga, Pierre Brugières, Emmanuelle Apartis, Thomas de Broucker and Stéphane Palfi

    Article first published online : 27 JAN 2012, DOI: 10.1002/mds.24923

  3. You have free access to this content
    Expanded clinical phenotype of women with the FMR1 premutation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1009–1016, Sarah M. Coffey, Kylee Cook, Nicole Tartaglia, Flora Tassone, Danh V. Nguyen, Ruiqin Pan, Hannah E. Bronsky, Jennifer Yuhas, Mariya Borodyanskaya, Jim Grigsby, Melanie Doerflinger, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32060

  4. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 38–46, W Chonchaiya, DV Nguyen, J Au, L Campos, EM Berry-Kravis, K Lohse, Y Mu, A Utari, C Hervey, L Wang, P Sorensen, K Cook, L Gane, F Tassone and RJ Hagerman

    Article first published online : 14 APR 2010, DOI: 10.1111/j.1399-0004.2010.01448.x

  5. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 3, April 2010, Pages: 775–785, P.E. Adams, J.S. Adams, D.V. Nguyen, D. Hessl, J.A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S.M. Rivera, J. Grigsby, L. Zhang, C. DeCarli, P.J. Hagerman and R.J. Hagerman

    Article first published online : 11 NOV 2009, DOI: 10.1002/ajmg.b.31046

  6. MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

    Genes, Brain and Behavior

    Volume 12, Issue 6, August 2013, Pages: 595–603, M. I. Alvarez-Mora, L. Rodriguez-Revenga, I. Madrigal, F. Torres-Silva, E. Mateu-Huertas, E. Lizano, M. R. Friedländer, E. Martí, X. Estivill and M. Milà

    Article first published online : 24 JUL 2013, DOI: 10.1111/gbb.12061

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    The FMR1 gene and fragile X-associated tremor/ataxia syndrome

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 6, 5 September 2009, Pages: 782–798, J.R. Brouwer, R. Willemsen and B.A. Oostra

    Article first published online : 22 DEC 2008, DOI: 10.1002/ajmg.b.30910

  8. You have free access to this content
    Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

    Genes, Brain and Behavior

    Volume 11, Issue 5, July 2012, Pages: 577–585, F. Tassone, C. M. Greco, M. R. Hunsaker, A. L. Seritan, R. F. Berman, L. W. Gane, S. Jacquemont, K. Basuta, L.-W. Jin, P. J. Hagerman and R. J. Hagerman

    Article first published online : 6 APR 2012, DOI: 10.1111/j.1601-183X.2012.00779.x

  9. Hyperintensity in the basis pontis: Atypical neuroradiological findings in a woman with FXTAS

    Movement Disorders

    Volume 25, Issue 5, 15 April 2010, Pages: 649–650, Germán Morís, Mónica Arias, Maria Valle López and Victoria Álvarez

    Article first published online : 3 MAR 2010, DOI: 10.1002/mds.22811

  10. Immune-mediated disorders among women carriers of fragile X premutation alleles

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2473–2481, Tri Indah Winarni, Weerasak Chonchaiya, Tanjung Ayu Sumekar, Paul Ashwood, Guadalupe Mendoza Morales, Flora Tassone, Danh V. Nguyen, Sultana M.H. Faradz, Judy Van de Water, Kylee Cook, Alyssa Hamlin, Yi Mu, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35569

  11. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1304–1309, Alyssa A. Hamlin, Dina Sukharev, Luis Campos, Yi Mu, Flora Tassone, David Hessl, Danh V. Nguyen, Danuta Loesch and Randi J. Hagerman

    Article first published online : 23 APR 2012, DOI: 10.1002/ajmg.a.35323

  12. Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

    Genes, Brain and Behavior

    Volume 14, Issue 3, March 2015, Pages: 251–259, R. C. Birch, D. R. Hocking, K. M. Cornish, J. C. Menant, N. Georgiou-Karistianis, D. E. Godler, W. Wen, A. Hackett, C. Rogers and J. N. Trollor

    Article first published online : 25 MAR 2015, DOI: 10.1111/gbb.12204

  13. The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 263–268, T I Winarni, F E P Mundhofir, A Ediati, M Belladona, W M Nillesen, H G Yntema, B C J Hamel, S M H Faradz and R J Hagerman

    Article first published online : 6 JUN 2012, DOI: 10.1111/j.1399-0004.2012.01899.x

  14. A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 629–635, Dalila Aguilar, Kathryn E. Sigford, Kultida Soontarapornchai, Danh V. Nguyen, Patrick E. Adams, Jennifer M. Yuhas, Flora Tassone, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32211

  15. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 74–77, Y Liu, TI Winarni, L Zhang, F Tassone and RJ Hagerman

    Article first published online : 17 OCT 2012, DOI: 10.1111/cge.12026

  16. Posterior Subthalamic Area Deep Brain Stimulation for Fragile X–Associated Tremor/Ataxia Syndrome

    Neuromodulation: Technology at the Neural Interface

    Volume 17, Issue 8, December 2014, Pages: 721–723, Genko Oyama, Atsushi Umemura, Yasushi Shimo, Natsuko Nishikawa, Asuka Nakajima, Takayuki Jo, Madoka Nakajima, Hisato Ishii, Daisuke Yamada, Masashi Takanashi, Hajime Arai, Eiji Nanba and Nobutaka Hattori

    Article first published online : 14 FEB 2014, DOI: 10.1111/ner.12150

  17. Case report: Dystonia in a fragile X carrier

    Movement Disorders

    Volume 29, Issue 7, June 2014, Pages: E4–E5, Lin Zhang, Dina Sukharev, Andrea Schneider, John M. Olichney, Andreea Seritan and Randi J. Hagerman

    Article first published online : 5 APR 2011, DOI: 10.1002/mds.23600

  18. Fragile X–associated tremor ataxia syndrome sine tremor

    Movement Disorders

    Volume 26, Issue 10, 15 August 2011, Pages: 1960–1962, Nin Bajaj, Derek Soon and Niall Quinn

    Article first published online : 31 MAY 2011, DOI: 10.1002/mds.23718

  19. Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1543–1546, Edmund C. Jenkins, Flora Tassone, Lingling Ye, Hong Gu, Man Xi, Milen Velinov, W. Ted Brown, Randi J. Hagerman and Paul J. Hagerman

    Article first published online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32342

  20. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 139B, Issue 1, 5 November 2005, Pages: 115–121, David Hessl, Flora Tassone, Danuta Z. Loesch, Elizabeth Berry-Kravis, Maureen A. Leehey, Louise W. Gane, Ingrid Barbato, Cathlin Rice, Emma Gould, Deborah A. Hall, James Grigsby, Jacob A. Wegelin, Susan Harris, Foster Lewin, Dahlia Weinberg, Paul J. Hagerman and Randi J. Hagerman

    Article first published online : 23 SEP 2005, DOI: 10.1002/ajmg.b.30241