Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Susan E Tomlinson"'
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia. Methods The splicing impact of c.507
Externí odkaz:
https://doaj.org/article/c5bd7cb544b846f1b7533864122581bf
Autor:
Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J. Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Publikováno v:
Am J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2ce1a54ab6a28d5b8c22400a3dfae7
https://doi.org/10.1016/j.ajhg.2022.11.015
https://doi.org/10.1016/j.ajhg.2022.11.015
Autor:
Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C. Davies, Penny Snell, Liam G Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F Bennett, Jacob E Munro, Kathie J. Ngo, Luke Chen, Mathew J Wallis, Ernest G Butler, Kishore R Kumar, Kathy HC Wu, Susan E Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee-Archer, Egor Dolzhenko, Michael A. Eberle, Leslie J Roberts, Brent L Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J Lockhart
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified a novel intronic GAA repeat expansion in the gene encoding Fibroblast Growth Factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bc48b7503322811a8b3b992e80c2acb
https://doi.org/10.1101/2022.10.21.22281020
https://doi.org/10.1101/2022.10.21.22281020
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073CT (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia.The splicing impact of c.5073CT was assessed using an in vit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb5d91164c8d239438bdb65c4c4a093
https://doi.org/10.1002/mgg3.1923
https://doi.org/10.1002/mgg3.1923
Autor:
Gabriele S. Merki-Feld, Deborah Bateson, Susan E. Tomlinson, Kevin McGeechan, Raymond Garrick, Bruce J. Brew, Samantha Warhurst, Christopher Rofe
Publikováno v:
Cephalalgia. 38:754-764
Background Migraine is highly prevalent in women (18%). Peak morbidity affects their most productive years, coinciding with peak fertility. Hormonal contraception is often tailored for migraine prevention. Estrogen-containing contraceptives may be co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1bd7f571d9b91aa3638b52d797179f2
https://doi.org/10.1177/0333102417710636
https://doi.org/10.1177/0333102417710636
Autor:
Danqing Zhu, Sophie Devery, Melina Ellis, Kathy H C Wu, Susan E. Tomlinson, Phillip D. Cremer, Andrea Cortese, Natalia Dominik, Penelope J Spring, Henry Houlden, Michel Tchan, Simon Hawke, Stephanie Efthymiou, Marina L. Kennerson, Karl Ng, Stephen Tisch, Mary M. Reilly, Kishore R. Kumar, Garth A. Nicholson, Marion Stoll
Publikováno v:
Brain. 143:e82-e82
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bc54e55ec4b830a08e5d6b8a2ce0bdd
https://doi.org/10.1093/brain/awaa244
https://doi.org/10.1093/brain/awaa244
Autor:
Yu-ichi Noto, William Huynh, James Howells, Susanna B. Park, Susan E. Tomlinson, Matthew C. Kiernan, Nidhi Garg, Judith M. Spies, Steve Vucic, Emily K. Mathey, Arun V. Krishnan, Con Yiannikas, John D. Pollard, Neil G. Simon
Publikováno v:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 129(10)
To improve understanding of disease pathophysiology in anti-myelin-associated glycoprotein (anti-MAG) neuropathy to guide further treatment approaches.Anti-MAG neuropathy patients underwent clinical assessments, nerve conduction and excitability stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e296a3bdc8802a82c8d89e571a0c557
https://pubmed.ncbi.nlm.nih.gov/30144659
https://pubmed.ncbi.nlm.nih.gov/30144659
Publikováno v:
Neuropharmacology. 132
With the rapid evolution of understanding of neurological channelopathies comes a need for sensitive tools to evaluate patients in clinical practice. Neurological channelopathies with a single-gene basis can manifest as seizures, headache, ataxia, ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc26c95fdc4fbfed4ea641ea0966febf
https://pubmed.ncbi.nlm.nih.gov/28476643
https://pubmed.ncbi.nlm.nih.gov/28476643
Autor:
Michelle A. Farrar, Susan E. Tomlinson, Cindy S.-Y. Lin, Samuel F. Berkovic, Georgina Hollingsworth, Kate A. Carey, James Howells, David Burke, Matthew C. Kiernan, Ingrid E. Scheffer, Susanna B. Park, John A. Lawson
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 90:A4.1-A4
IntroductionMutations in SCN1A encoding the Nav1.1 subunit of the neuronal sodium channel underlie the devastating epilepsy of Dravet’s syndrome.1 The mechanism by which Nav1.1 dysfunction causes seizures is not clear. In vitro and in silico channe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75e74d4bd925603d108954780d901e01
https://doi.org/10.1136/jnnp-2019-anzan.9
https://doi.org/10.1136/jnnp-2019-anzan.9
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f624a8dc430c06a87ee6bcd2cc2b1e
https://doi.org/10.1136/jnnp-2012-304131
https://doi.org/10.1136/jnnp-2012-304131