Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Tracey D, Graves"'
Autor:
Rhys H. Thomas, Amy Hunter, Lyndsey Butterworth, Catherine Feeney, Tracey D. Graves, Sarah Holmes, Pushpa Hossain, Jo Lowndes, Jenny Sharpe, Sheela Upadhyaya, Kristin N. Varhaug, Marcela Votruba, Russell Wheeler, Kristina Staley, Shamima Rahman
Publikováno v:
Journal of Inherited Metabolic Disease. 45:796-803
Primary mitochondrial disorders encompass a wide range of clinical presentations and a spectrum of severity. They currently lack effective disease-modifying therapies and have a high mortality and morbidity rate. It is therefore essential to know tha
Autor:
Tracey D, Graves, Robert C, Griggs, Brian N, Bundy, Joanna C, Jen, Robert W, Baloh, Michael G, Hanna, Jennifer, Lloyd
Publikováno v:
Cerebellum (London, England).
Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in KCNA1. Patients have childhood onset of intermittent attacks of ataxia, dizziness or imbalance. In order to quantify the natural history of EA1, its effect
Autor:
Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg, Dimitri M. Kullmann
Publikováno v:
Neurobiology of Disease, Vol 32, Iss 1, Pp 10-15 (2008)
Premature stop codons in CACNA1A, which encodes the α1A subunit of neuronal P/Q-type (CaV2.1) Ca2+ channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic h
Externí odkaz:
https://doaj.org/article/21e51697b439456988627ed3288dc518
Autor:
Tracey D, Graves
Publikováno v:
Neuropsychiatric disease and treatment. 14
Autor:
Mohammed K. Salajegheh, Robert W. Baloh, Joanna C. Jen, Richard J. Barohn, Robert C. Griggs, Tracey D. Graves, Yoon Hee Cha, Michael G. Hanna, Angelika F. Hahn, Brian N. Bundy
Publikováno v:
Brain. 137:1009-1018
Episodic ataxia type 1 is considered a rare neuronal ion channel disorder characterized by brief attacks of unsteadiness and dizziness with persistent myokymia. To characterize the natural history, develop outcome measures for future clinical trials,
Autor:
David Burke, Carolyn M. Sue, Michael G. Hanna, Dimitri M. Kullmann, Paola Giunti, Sanjeev Rajakulendran, Tracey D. Graves, Robyn Labrum, Stella Veronica Tan, Susan E. Tomlinson, Doris-Eva Bamiou, Stephanie Schorge
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Background and objective Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unrepor
Autor:
Sanjeev Rajakulendran, Sameer M. Zuberi, Stephanie Schorge, Dimitri M. Kullmann, Tracey D. Graves, Huw R. Morris, Michael G. Hanna
Publikováno v:
Neurology. 75:367-372
Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and othe
Autor:
Dimitrios Kotzadimitriou, Rosalyn Davies, Stephanie Schorge, Tracey D. Graves, Dimitri M. Kullmann, Michael G. Hanna, Mary B. Davis, L. H. Eunson, Sanjeev Rajakulendran, Robyn Labrum, Nicholas W. Wood
Publikováno v:
The Journal of Physiology. 588:1905-1913
Mutations in CACNA1A, which encodes the principal subunit of the P/Q calcium channel, underlie episodic ataxia type 2 (EA2). In addition, some patients with episodic ataxia complicated by epilepsy have been shown to harbour CACNA1A mutations, raising
Autor:
L. H. Eunson, E. E. Kors, Paola Imbrici, Tracey D. Graves, Michael G. Hanna, Michel D. Ferrari, Peter J. Goadsby, Rune R. Frants, Joost Haan, Dimitri M. Kullmann, Arn M. J. M. van den Maagdenberg, Gisela M. Terwindt
Publikováno v:
Neurobiology of Disease, Vol 32, Iss 1, Pp 10-15 (2008)
Premature stop codons in CACNA1A, which encodes the alpha(1A) subunit of neuronal P/Q-type (Ca(V)2.1) Ca(2+) channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and
Autor:
Sarah K. Tate, Reetta Kälviäinen, Nicholas W. Wood, Kevin Murphy, Anne Mari Kantanen, David A. Hosford, Kevin V. Shianna, Stephanie L. Chissoe, Bronwyn E. Grinton, Peter Kinirons, Nicole M. Walley, Tracey D. Graves, Alice Stanton, Chantal Depondt, Michael E. Weale, Massimo Pandolfo, Leslie J. Sheffield, Samuel F. Berkovic, Norman Delanty, Terence J. O'Brien, Curtis Gumbs, Sanjay M. Sisodiya, Michael G. Hanna, Dongliang Ge, James O. McNamara, Rinki Singh, John Lynch, David Goldstein, Kristl Claeys, Cassandra Szoeke, Colin P. Doherty, Gianpiero L. Cavalleri, Ingrid E. Scheffer, Josemir W. Sander, Rachel A. Gibson, John C. Mulley, Rodney A. Radtke, Kristen N. Linney, John S. Duncan, Kai Eriksson, Deirdre O'Rourke
Publikováno v:
The lancet neurology
Summary Background The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy. Methods W