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There are 211221 results for: content related to: Plasma phenylalanine level in dopa-responsive dystonia

  1. High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 4, June 2010, Pages: 903–908, Yah-Huei Wu-Chou, Tu-Hsueh Yeh, Chuan-Yu Wang, Juei-Jueng Lin, Chin-Chang Huang, Hsiu-Chen Chang, Szu-Chia Lai, Rou-Shayn Chen, Yi-Hsin Weng, Chia-Ling Huang and Chin-Song Lu

    Article first published online : 15 JAN 2010, DOI: 10.1002/ajmg.b.31058

  2. Dopa-responsive dystonia: Recent advances and remaining issues to be addressed

    Movement Disorders

    Volume 14, Issue 5, September 1999, Pages: 709–715, Yoshiaki Furukawa and Stephen J. Kish

    Article first published online : 16 JAN 2001, DOI: 10.1002/1531-8257(199909)14:5<709::AID-MDS1001>3.0.CO;2-T

  3. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Article first published online : 19 JUN 2012, DOI: 10.1002/mds.25051

  4. Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

    Movement Disorders

    Volume 27, Issue 11, 15 September 2012, Pages: 1451–1456, Jessie Theuns, David Crosiers, Luc Debaene, Karen Nuytemans, Bram Meeus, Kristel Sleegers, Dirk Goossens, Ellen Corsmit, Ellen Elinck, Karin Peeters, Maria Mattheijssens, Barbara Pickut, Jurgen Del-Favero, Sebastiaan Engelborghs, Peter Paul De Deyn, Patrick Cras and Christine Van Broeckhoven

    Article first published online : 13 SEP 2012, DOI: 10.1002/mds.25147

  5. Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 514–516, Mitsuhiro Kato, Eiji Nanba, Shinjiro Akaboshi, Takashi Shiihara, Aiko Ito, Tomomi Honma, Kenji Tsuburaya and Kiyoshi Hayasaka

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<514::AID-ANA16>3.0.CO;2-H

  6. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 540–543, Marjo S. Van Der Knaap, Nanda M. Verhoeven, Petra Maaswinkel-Mooij, Petra J. W. Pouwels, Wim Onkenhout, Els A. J. Peeters, Sylvia Stöckler-Ipsiroglu and Cornelius Jakobs

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<540::AID-ANA23>3.0.CO;2-K

  7. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 517–520, Yoshiaki Furukawa, Mark Guttman, Steven P. Sparagana, Joel M. Trugman, Keith Hyland, Philip Wyatt, Anthony E. Lang, Guy A. Rouleau, Mitsunobu Shimadzu and Stephen J. Kish

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B

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    Generation of human artificial chromosomes expressing naturally controlled guanosine triphosphate cyclohydrolase I gene

    Genes to Cells

    Volume 7, Issue 10, October 2002, Pages: 1021–1032, Masashi Ikeno, Hidehito Inagaki, Keiko Nagata, Miwa Morita, Hiroshi Ichinose and Tuneko Okazaki

    Article first published online : 27 SEP 2002, DOI: 10.1046/j.1365-2443.2002.00580.x

  9. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia

    Annals of Neurology

    Volume 51, Issue 5, May 2002, Pages: 637–641, Yoshiaki Furukawa, Gregory Kapatos, John W. Haycock, Julian Worsley, Henry Wong, Stephen J. Kish and Torbjoern G. Nygaard

    Article first published online : 1 APR 2002, DOI: 10.1002/ana.10175

  10. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency

    Annals of Neurology

    Volume 55, Issue 1, January 2004, Pages: 147–148, Yoshiaki Furukawa, Stephen J. Kish and Stanley Fahn

    Article first published online : 30 DEC 2003, DOI: 10.1002/ana.10820

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    Optimization of continuous in vivo DOPA production and studies on ectopic DA synthesis using rAAV5 vectors in Parkinsonian rats

    Journal of Neurochemistry

    Volume 111, Issue 2, October 2009, Pages: 355–367, Tomas Björklund, Hélène Hall, Nathalie Breysse, Charlotte Soneson, Thomas Carlsson, Ronald J. Mandel, Manolo Carta and Deniz Kirik

    Article first published online : 17 AUG 2009, DOI: 10.1111/j.1471-4159.2009.06340.x

  12. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 528–531, Hiroyuki Morino, Toshitaka Kawarai, Yuishin Izumi, Toshinari Kazuta, Masaya Oda, Osamu Komure, Fukashi Udaka, Masakuni Kameyama, Shigenobu Nakamura and Hideshi Kawakami

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<528::AID-ANA20>3.0.CO;2-R

  13. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Article first published online : 6 JUN 2014, DOI: 10.1002/mds.25914

  14. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 536–540, Focke Ziemssen, Eckhart Sindern, J. Michael Schröder, Yoon S. Shin, Jahen Zange, Manfred W. Kilimann, Jean-Pierre Malin and Matthias Vorgerd

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K

  15. Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 544–549, Valerie Askanas, W. King Engel, Renate B. Alvarez, Blas Frangione, Jorge Ghiso and Ruben Vidal

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<544::AID-ANA24>3.0.CO;2-D

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    The neurobiology of tetrahydrobiopterin biosynthesis: A model for regulation of GTP cyclohydrolase I gene transcription within nigrostriatal dopamine neurons

    IUBMB Life

    Volume 65, Issue 4, April 2013, Pages: 323–333, Gregory Kapatos

    Article first published online : 4 MAR 2013, DOI: 10.1002/iub.1140

  17. Milestones in dystonia

    Movement Disorders

    Volume 26, Issue 6, May 2011, Pages: 1106–1126, Laurie J. Ozelius, Naomi Lubarr and Susan B. Bressman

    Article first published online : 27 MAY 2011, DOI: 10.1002/mds.23775

  18. Nitration of manganese superoxide dismutase in cerebrospinal fluids is a marker for peroxynitrite-mediated oxidative stress in neurodegenerative diseases

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 524–527, Koji Aoyama, Kazuo Matsubara, Yasunori Fujikawa, Yukio Nagahiro, Keiko Shimizu, Nobuyuki Umegae, Nobumasa Hayase, Hiroshi Shiono and Shotai Kobayashi

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<524::AID-ANA19>3.0.CO;2-5

  19. A novel congenital myopathy with apoptotic changes

    Annals of Neurology

    Volume 47, Issue 4, April 2000, Pages: 531–536, Koji Ikezoe, Chuanzhu Yan, Takashi Momoi, Chikako Imoto, Narihiro Minami, Masamichi Ariga, Kenji Nihei and Ikuya Nonaka

    Article first published online : 26 APR 2001, DOI: 10.1002/1531-8249(200004)47:4<531::AID-ANA21>3.0.CO;2-S

  20. Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 392–394, S Karkheiran, B Hubert, HN Moghaddam, H Darvish and C Paisán-Ruiz

    Article first published online : 9 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01915.x