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Paper Details

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Neurology
87
2015
A726T, ADCY5, ADCY5 mutations, ADCY5-related dyskinesia, C1, C2, adenylate, adenylate cyclase 5, allele, axial hypotonia, chorea, choreiform or dystonic movements, dyskinesia, dystonia, episodic movement disorder, facial and hand dystonia, hyperkinetic abnormal movements, hyperkinetic disorder, hypotonia, intermittent facial dyskinesia, limb hypertonia, myoclonus, p.M1029K, p.R418Q, p.R418W, paroxysmal nocturnal or diurnal dyskinesia, patients
Author NameAffiliation
Dong-Hui Chenand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Jennifer Friedmanand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Olena Korvatskaand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Emily S Bonkowskiand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Fuki M Hisamaand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Phillip D Swansonand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Laura M Amendolaand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Michael O Dorschnerand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Michael O Dorschnerand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Evan E Eichlerand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Evan E Eichlerand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Ali Torkamaniand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Thomas D Birdand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
Wendy H Raskindand Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle Inserm (A.M., U 7 CNRS (A.M., UMR 7225 Sorbonne Universite (A.M., UMR S 7 Institut du Cerveau et de la Moelle Epiniere (A.M., University of California, San Diego Rady Childrens Hospital (J.R.F.), CA Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Universite de Strasbourg Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) (M.A., INSERM-U964/CNRS-UMR7104/Universite de Strasbourg, France Phoenix Children's Hospital (S.B.), AZ CHU de Bordeaux (N.D.-P.), Lucile Packard Children's Hospital, Stanford University, CA Johns Hopkins All Children's Hospital (S.W.), FL The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute
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