PMC Links for Books (Select 3320148) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 69626662.

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

Abstract Article PDF–10M

Select item 67498143.

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

Abstract Article PDF–453K

Select item 67462084.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Marissa Dean, Ludwine Messiaen, Gregory M. Cooper, Michelle D. Amaral, Salman Rashid, Bruce R. Korf, David G. Standaert

Neurology. 2019 Sep 10; 93(11): 510–514. doi: 10.1212/WNL.0000000000008089

PMCID:: PMC6746208

Article PDF–239K

Select item 58205965.

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 Feb; 4(1): e214. Published online 2018 Jan 24. doi: 10.1212/NXG.0000000000000214

PMCID:: PMC5820596

Article PDF–70K

Select item 56127686.

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus

Matthew J. Barrett, Eli S. Williams, Chelsea Chambers, Radhika Dhamija

Neurol Genet. 2017 Oct; 3(5): 193. Published online 2017 Sep 25. doi: 10.1212/NXG.0000000000000193

PMCID:: PMC5612768

Article PDF–85K

Select item 55495077.

Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci

Parkinsonism Relat Disord. 2017 Aug; 41: 37–43. doi: 10.1016/j.parkreldis.2017.05.004

PMCID:: PMC5549507

Abstract Article PDF–408K

Select item 53182688.

Wendy H. Raskind, Jennifer R. Friedman, Emmanuel Roze, Aurélie Méneret, Dong-Hui Chen, Thomas D. Bird

Mov Disord. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Mov Disord. 2017 Feb; 32(2): 305–306. Published online 2016 Dec 9. doi: 10.1002/mds.26888

PMCID:: PMC5318268

Article PDF–279K

Select item 49500039.

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

Abstract Article PDF–366K

Select item 483329110.

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, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan M. Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas W. Wood, Kailash P. Bhatia

Am J Hum Genet. 2016 Apr 7; 98(4): 763–771. Published online 2016 Apr 7. doi: 10.1016/j.ajhg.2016.02.015

PMCID:: PMC4833291

Abstract Article PDF–1.2M

Select item 472429611.

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. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Mov Disord. 2016 Jan; 31(1): 147–148. Published online 2015 Dec 21. doi: 10.1002/mds.26494

PMCID:: PMC4724296

Article PDF–370K

Select item 467675312.

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

Abstract Article PDF–671K

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 450193714.

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

Abstract Article PDF–651K

Select item 445732315.

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

Abstract Article PDF–1.6M

Select item 365555316.

Modulation of β-Adrenergic Receptor Signaling in Heart Failure and Longevity: Targeting Adenylyl Cyclase Type 5

David Ho, Lin Yan, Kousaku Iwatsubo, Dorothy E. Vatner, Stephen F. Vatner

Heart Fail Rev. Author manuscript; available in PMC 2013 May 16.

Published in final edited form as: Heart Fail Rev. 2010 Sep; 15(5): 495–512. doi: 10.1007/s10741-010-9183-5

PMCID:: PMC3655553

Abstract Article PDF–1.0M

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

Abstract Article PDF–1.0M

Select item 331031118.

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

Connie Marras, Katja Lohmann, Anthony Lang, Christine Klein

Neurology. 2012 Mar 27; 78(13): 1016–1024. doi: 10.1212/WNL.0b013e31824d58ab

PMCID:: PMC3310311

Abstract Article PDF–350K

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