Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Mary D, King"'
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous group of movement disorders characterized by episodic involuntary movements (dystonia, dyskinesia, chorea and/or ataxia). Historically, PxMDs were classified clinicall
Externí odkaz:
https://doaj.org/article/51376402139c43eba1f2a4cb3676b11b
Autor:
Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen
Publikováno v:
Stem Cell Research, Vol 46, Iss , Pp 101853- (2020)
De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is
Externí odkaz:
https://doaj.org/article/c4ca157931014b44bd20b9cee5fada78
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0b2b7f5942fbcfd8d506aab27f2811
https://doi.org/10.1212/wnl.0000000000201492
https://doi.org/10.1212/wnl.0000000000201492
Autor:
Susan, Harvey, Nicholas M, Allen, Mary D, King, Bryan, Lynch, Sally A, Lynch, Mary, O'Regan, Declan, O'Rourke, Amre, Shahwan, David, Webb, Kathleen M, Gorman, S, Tirupathi
Publikováno v:
Developmental Medicine & Child Neurology. 64:780-788
To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long-term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland.This was a 10-year retro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c3c2b61cf37bf91e57d99e60366b30
https://doi.org/10.1111/dmcn.15153
https://doi.org/10.1111/dmcn.15153
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
ObjectiveKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.MethodsWe screened 893 individuals with developmental and epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fb9401b8e581a3f6ee5547c636a436
https://hal.archives-ouvertes.fr/hal-03817762
https://hal.archives-ouvertes.fr/hal-03817762
Publikováno v:
Archives of disease in childhood - Education & practice edition. 106:71-77
Dystonia is a hyperkinetic movement disorder characterised by sustained or intermittent muscle contractions causing abnormal movements, postures or both. Dystonia is a challenging condition to diagnose and treat. Dystonia is often under-recognised in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b729126dc0e753b034148ae3915df2c
https://doi.org/10.1136/archdischild-2019-318131
https://doi.org/10.1136/archdischild-2019-318131
Autor:
Darach Crimmins, Dominick J. H. McCabe, Peter Boers, David Williams, Sean M. Murphy, Mary O'Regan, Peter J. Kelly, Mohsen Javadpour, Ronan J. Doherty, Desmond O'Neill, Christopher McGuigan, Simon Cronin, Bryan Lynch, Niall Tubridy, John Caird, David Webb, Joan T. Moroney, Mary D. King
Publikováno v:
Irish Journal of Medical Science (1971 -). 190:335-344
There are no previously published reports regarding the epidemiology and characteristics of moyamoya disease or syndrome in Ireland. To examine patient demographics, mode of presentation and the outcomes of extracranial-intracranial bypass surgery in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::497251d5c762c1423568a6589a5f7ab6
https://doi.org/10.1007/s11845-020-02280-w
https://doi.org/10.1007/s11845-020-02280-w
Publikováno v:
European Journal of Paediatric Neurology. 24:117-122
Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a142d59d7b006a800f9e82a9c61b37
https://doi.org/10.1016/j.ejpn.2019.12.016
https://doi.org/10.1016/j.ejpn.2019.12.016
Autor:
Bassett Ds, Kathleen M. Gorman, Colin H. Peters, Peter C. Ruben, Richard E. Rosch, Mary D. King, Bryan Lynch, Laura Jones
Publikováno v:
Brain Communications. 3
Pathogenic variants in the voltage-gated sodium channel gene (SCN1A) are amongst the most common genetic causes of childhood epilepsies. There is considerable heterogeneity in both the types of causative variants and associated phenotypes; a recent e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce658b9c558ab18bf051d74cd13f5e30
https://doi.org/10.1093/braincomms/fcab235
https://doi.org/10.1093/braincomms/fcab235
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
Externí odkaz:
https://doaj.org/article/a5c2a9a5ae1d4309b4ff3807c966e1af