PMC Articles for MedGen (Select 1790407) - PMC

Select item 106654741.

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

Audrey Pontrucher, Magalie Barth, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan

Front Neurol. 2023; 14: 1266686. Published online 2023 Nov 9. doi: 10.3389/fneur.2023.1266686

PMCID:: PMC10665474

Article PDF–181K

Select item 99838222.

Effects of theophylline on ADCY5 activation—From cellular studies to improved therapeutic options for ADCY5-related dyskinesia patients

Dirk Tänzler, Marc Kipping, Marcell Lederer, Wiebke F. Günther, Christian Arlt, Stefan Hüttelmaier, Andreas Merkenschlager, Andrea Sinz

PLoS One. 2023; 18(3): e0282593. Published online 2023 Mar 3. doi: 10.1371/journal.pone.0282593

PMCID:: PMC9983822

Article PDF–1.3M

Select item 96241103.

Retrospective Study from a Single Center in Poland of Postoperative Outcomes of Muscle Strength in Patients After Surgical Suturing of the Achilles Tendon Using a Kessler’s Suture and 28 Weeks of Supervised Postoperative Physiotherapy

Łukasz Sikorski, Andrzej Czamara

Med Sci Monit. 2022; 28: e938267-1–e938267-19. Prepublished online 2022 Oct 12. Published online 2022 Oct 27. doi: 10.12659/MSM.938267

PMCID:: PMC9624110

Article PDF–450K

Select item 95289284.

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso

Yully Andrea Rangel, Eugenia Espinosa

Biomedica. 2022 Sep; 42(3): 429–434. Spanish. Published online 2022 Sep 2. doi: 10.7705/biomedica.6296

PMCID:: PMC9528928

Article PDF–57K

Select item 93770575.

ADCY5-related dyskinesia: a case report

Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Meng-Han Tsai

Neurol Res Pract. 2022; 4: 39. Published online 2022 Aug 15. doi: 10.1186/s42466-022-00204-w

PMCID:: PMC9377057

Article PDF–1.2M

Select item 84017006.

A Novel Anti-Noise Fault Diagnosis Approach for Rolling Bearings Based on Convolutional Neural Network Fusing Frequency Domain Feature Matching Algorithm

Xiangyu Zhou, Shanjun Mao, Mei Li

Sensors (Basel) 2021 Aug; 21(16): 5532. Published online 2021 Aug 17. doi: 10.3390/s21165532

PMCID:: PMC8401700

Article PDF–9.2M

Select item 83548587.

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli-Avella, Krishna K. Kandaswamy, Suliman Khan, Natalia Ordonez-Herrera, Kornelia Tripolszki, Christian Beetz, Maria Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al-Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed A. Albalwi, Abdulrahman Faiz Alswaid, Zuhair N. Al-Hassnan, Malak Ali Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al-Gazali, Huma Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Abbas Al-Sannaa, Aisha M. AlShamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

Genet Med. 2021; 23(8): 1551–1568. Published online 2021 Apr 19. doi: 10.1038/s41436-021-01159-0

PMCID:: PMC8354858

Article PDF–1.1M

Select item 69626668.

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia

Dong‐Hui Chen, Caitlin S. Latimer, Min Spencer, Prasanthi Karna, Luis F. Gonzalez‐Cuyar, Marie Y. Davis, C. Dirk Keene, Thomas D. Bird, Wendy H. Raskind

Mov Disord Clin Pract. 2020 Jan; 7(1): 70–77. Published online 2019 Dec 14. doi: 10.1002/mdc3.12873

PMCID:: PMC6962666

Article PDF–10M

Select item 67498149.

Nirosen Vijiaratnam, Kailash P. Bhatia, Anthony E. Lang, Wendy H. Raskind, Alberto J. Espay

Mov Disord Clin Pract. 2019 Sep; 6(7): 512–520. Published online 2019 Aug 19. doi: 10.1002/mdc3.12816

PMCID:: PMC6749814

Article PDF–453K

Select item 662251310.

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, Eavan McGovern, Marie Vidailhet, Isabelle Arnulf, Smaranda Leu-Semenescu

J Clin Sleep Med. 2019 Jul 15; 15(7): 1021–1029. Published online 2019 Jul 15. doi: 10.5664/jcsm.7886

PMCID:: PMC6622513

Article PDF–637K

Select item 647001111.

Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia

TB Doyle, MP Hayes, DH Chen, WH Raskind, VJ Watts

Biochem Pharmacol. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Biochem Pharmacol. 2019 May; 163: 169–177. Published online 2019 Feb 14. doi: 10.1016/j.bcp.2019.02.005

PMCID:: PMC6470011

Article PDF–1.4M

Select item 535938312.

Andrew G. L. Douglas, Gaia Andreoletti, Kevin Talbot, Simon R. Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C. Foulds

Neurogenetics. 2017; 18(2): 111–117. Published online 2017 Feb 22. doi: 10.1007/s10048-017-0510-z

PMCID:: PMC5359383

Article PDF–780K

Select item 495000313.

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, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598

PMCID:: PMC4950003

Article PDF–366K

Select item 467675314.

Dong-Hui Chen, Aurélie Méneret, Jennifer R. Friedman, Olena Korvatska, Alona Gad, Emily S. Bonkowski, Holly A. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon-Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

Neurology. 2015 Dec 8; 85(23): 2026–2035. doi: 10.1212/WNL.0000000000002058

PMCID:: PMC4676753

Article PDF–671K

Select item 450193715.

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, Nicholas W. Wood, Kailash P. Bhatia

Neurology. 2015 Jul 7; 85(1): 80–88. doi: 10.1212/WNL.0000000000001720

PMCID:: PMC4501937

Article PDF–651K

Select item 445732316.

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, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott-Van Zeeland, Qi Chen, Samuel Levy, Eric J. Topol, Daniel Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani

Ann Neurol. Author manuscript; available in PMC 2015 Jun 5.

Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 542–549. Published online 2014 Mar 13. doi: 10.1002/ana.24119

PMCID:: PMC4457323

Article PDF–1.6M

Select item 350868017.

Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in Adenylate 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, Wendy H. Raskind

Arch Neurol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Arch Neurol. 2012 May; 69(5): 630–635. doi: 10.1001/archneurol.2012.54

PMCID:: PMC3508680

Article PDF–1.0M

Select item 311672218.

Familial Dyskinesia and Facial Myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

Wendy H. Raskind, Mark Matsushita, Beate Peter, Jeffrey Biberston, John Wolff, Hillary Lipe, Ruben Burbank, Thomas D. Bird

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2011 Jun 16.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5; 150B(4): 570–574. doi: 10.1002/ajmg.b.30879

PMCID:: PMC3116722

Article PDF–104K

Select item 49163819.

X-linked recessive bulbospinal neuronopathy: a report of ten cases.

A E Harding, P K Thomas, M Baraitser, P G Bradbury, J A Morgan-Hughes, J R Ponsford

J Neurol Neurosurg Psychiatry. 1982 Nov; 45(11): 1012–1019. doi: 10.1136/jnnp.45.11.1012

PMCID:: PMC491638

Article PDF–2.2M

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