T B Doyle, M P Hayes, D H Chen, W H Raskind, V J Watts. Biochem Pharmacol 2019
Times Cited: 13
Times Cited: 13
Times Cited
Times Co-cited
Similarity
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ying-Zhang Chen, Jennifer R Friedman, Dong-Hui Chen, Guy C-K Chan, Cinnamon S Bloss, Fuki M Hisama, Sarah E Topol, Andrew R Carson, Phillip H Pham, Emily S Bonkowski,[...]. Ann Neurol 2014
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Phenotypic insights into ADCY5-associated disease.
Florence C F Chang, Ana Westenberger, Russell C Dale, Martin Smith, Hardev S Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A Ouvrier, Neil Mahant, Bernadette C Hanna,[...]. Mov Disord 2016
Florence C F Chang, Ana Westenberger, Russell C Dale, Martin Smith, Hardev S Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A Ouvrier, Neil Mahant, Bernadette C Hanna,[...]. Mov Disord 2016
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PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
Flavia Niccolini, Niccolo E Mencacci, Tayyabah Yousaf, Eugenii A Rabiner, Vincenzo Salpietro, Gennaro Pagano, Bettina Balint, Stephanie Efthymiou, Henry Houlden, Roger N Gunn,[...]. Mov Disord 2018
Flavia Niccolini, Niccolo E Mencacci, Tayyabah Yousaf, Eugenii A Rabiner, Vincenzo Salpietro, Gennaro Pagano, Bettina Balint, Stephanie Efthymiou, Henry Houlden, Roger N Gunn,[...]. Mov Disord 2018
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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic,[...]. Parkinsonism Relat Disord 2017
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic,[...]. Parkinsonism Relat Disord 2017
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A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Raphael Carapito, Nicodème Paul, Meiggie Untrau, Marion Le Gentil, Louise Ott, Ghada Alsaleh, Pierre Jochem, Mirjana Radosavljevic, Cédric Le Caignec, Albert David,[...]. Mov Disord 2015
Raphael Carapito, Nicodème Paul, Meiggie Untrau, Marion Le Gentil, Louise Ott, Ghada Alsaleh, Pierre Jochem, Mirjana Radosavljevic, Cédric Le Caignec, Albert David,[...]. Mov Disord 2015
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Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Ying-Zhang Chen, Mark M Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E Eichler, Deborah A Nickerson, Thomas D Bird,[...]. Arch Neurol 2012
Ying-Zhang Chen, Mark M Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E Eichler, Deborah A Nickerson, Thomas D Bird,[...]. Arch Neurol 2012
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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Christine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, Reetta Hinttala, Jan-Philip Schülke, Manju A Kurian, Ian M Carr, Alexander F Markham, David T Bonthron, Christopher Watson,[...]. Am J Hum Genet 2016
Christine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, Reetta Hinttala, Jan-Philip Schülke, Manju A Kurian, Ian M Carr, Alexander F Markham, David T Bonthron, Christopher Watson,[...]. Am J Hum Genet 2016
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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Vincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Conceicao Bettencourt, Niccolò E Mencacci, Christine Klein,[...]. Mov Disord 2018
Vincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Conceicao Bettencourt, Niccolò E Mencacci, Christine Klein,[...]. Mov Disord 2018
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R'Bibo, David S Lynch, Bettina Balint, Michèl A A P Willemsen, Matthew E Adams, Sarah Wiethoff, Kazunori Suzuki,[...]. Am J Hum Genet 2016
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R'Bibo, David S Lynch, Bettina Balint, Michèl A A P Willemsen, Matthew E Adams, Sarah Wiethoff, Kazunori Suzuki,[...]. Am J Hum Genet 2016
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ADCY5 mutations are another cause of benign hereditary chorea.
Niccolo E Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden,[...]. Neurology 2015
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Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner,[...]. Mov Disord 2017
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner,[...]. Mov Disord 2017
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Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.
Matthew J Barrett, Eli S Williams, Chelsea Chambers, Radhika Dhamija. Neurol Genet 2017
Matthew J Barrett, Eli S Williams, Chelsea Chambers, Radhika Dhamija. Neurol Genet 2017
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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H Raskind, Emmanuel Roze. Mov Disord 2016
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ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds. Neurogenetics 2017
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds. Neurogenetics 2017
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Motor dysfunction in type 5 adenylyl cyclase-null mice.
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ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski, Holly A Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim,[...]. Neurology 2015
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Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A Kühn, Juliane Spiegler, Anthony E Lang,[...]. J Pediatr 2017
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Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Lucia Abela, Manju A Kurian. J Inherit Metab Dis 2018
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Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Marisela E Dy, Florence C F Chang, Sol De Jesus, Irina Anselm, Neil Mahant, Pamela Zeilman, Lance H Rodan, Kelly D Foote, Wen-Hann Tan, Emad Eskandar,[...]. J Child Neurol 2016
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Saeed A Bohlega, Hussam Abou-Al-Shaar, Amaal AlDakheel, Huda Alajlan, Balsam S Bohlega, Brian F Meyer, Dorota Monies, Edward J Cupler, Amr M Al-Saif. Parkinsonism Relat Disord 2019
Saeed A Bohlega, Hussam Abou-Al-Shaar, Amaal AlDakheel, Huda Alajlan, Balsam S Bohlega, Brian F Meyer, Dorota Monies, Edward J Cupler, Amr M Al-Saif. Parkinsonism Relat Disord 2019
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Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.
Aurélie Méneret, Domitille Gras, Eavan McGovern, Emmanuel Roze. Ann Intern Med 2019
Aurélie Méneret, Domitille Gras, Eavan McGovern, Emmanuel Roze. Ann Intern Med 2019
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Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.
Sinem Tunc, Norbert Brüggemann, Magdalena K Baaske, Corinna Hartmann, Karen Grütz, Ana Westenberger, Christine Klein, Alexander Münchau, Tobias Bäumer. Parkinsonism Relat Disord 2017
Sinem Tunc, Norbert Brüggemann, Magdalena K Baaske, Corinna Hartmann, Karen Grütz, Ana Westenberger, Christine Klein, Alexander Münchau, Tobias Bäumer. Parkinsonism Relat Disord 2017
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Mutations in GNAL cause primary torsion dystonia.
Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E Lang, Tsao-Wei Liang, Richard M Trosch, Sierra White,[...]. Nat Genet 2013
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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Diane Doummar, Christel Dentel, Romane Lyautey, Julia Metreau, Boris Keren, Nathalie Drouot, Ludivine Malherbe, Viviane Bouilleret, Jérémie Courraud, Maria Paola Valenti-Hirsch,[...]. Eur J Hum Genet 2020
Diane Doummar, Christel Dentel, Romane Lyautey, Julia Metreau, Boris Keren, Nathalie Drouot, Ludivine Malherbe, Viviane Bouilleret, Jérémie Courraud, Maria Paola Valenti-Hirsch,[...]. Eur J Hum Genet 2020
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Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.
Anne J E Waalkens, Fleur Vansenne, Annemarie H van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J de Koning, Marina A J Tijssen. Neurol Genet 2018
Anne J E Waalkens, Fleur Vansenne, Annemarie H van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J de Koning, Marina A J Tijssen. Neurol Genet 2018
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Methylphenidate Can Improve Chorea in NKX2.1 and ADCY5 Mutation-positive Patients-A Report of Two Children.
J Tübing, J Bohnenpoll, J Spiegler, G Gillessen-Kaesbach, T Bäumer, C Max, J Sperner, C Klein, A Münchau. Mov Disord Clin Pract 2018
J Tübing, J Bohnenpoll, J Spiegler, G Gillessen-Kaesbach, T Bäumer, C Max, J Sperner, C Klein, A Münchau. Mov Disord Clin Pract 2018
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Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum?
Nirosen Vijiaratnam, Rachel Newby, Peter A Kempster. J Clin Neurosci 2018
Nirosen Vijiaratnam, Rachel Newby, Peter A Kempster. J Clin Neurosci 2018
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Cytosolic adenylyl cyclase defines a unique signaling molecule in mammals.
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Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.
Aurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, Pauline Dodet, Diane Doummar, Florence Riant, Christine Tranchant, Valérie Fraix, Mathieu Anheim, Asya Ekmen,[...]. J Clin Sleep Med 2019
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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
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A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.
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Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.
Bettina Balint, Elena Antelmi, Niccolò E Mencacci, Amit Batla, Sofia H Eriksson, Matthew C Walker, Adolfo M Bronstein, Kailash P Bhatia. Parkinsonism Relat Disord 2018
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.