Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Tanya M. Bardakjian"'
Autor:
Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. Amado
Publikováno v:
Biology, Vol 13, Iss 2, p 93 (2024)
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel t
Externí odkaz:
https://doaj.org/article/10e85a1fa617400bbfe8c2f15de2799c
Autor:
Nathaniel M. Robbins, Jillian R. Ozmore, Thomas L. Winder, Pedro Gonzalez-Alegre, Tanya M. Bardakjian
Publikováno v:
Case Reports in Neurological Medicine, Vol 2020 (2020)
Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation
Externí odkaz:
https://doaj.org/article/9ee1004b67d44a0fa97d356d195f83fe
Publikováno v:
Tremor and Other Hyperkinetic Movements, Pp 1-4 (2018)
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. P
Externí odkaz:
https://doaj.org/article/99cbbee7c42341d6acd3d6368626cd0a
Autor:
Cheng-Tsung Hsiao, Thomas F. Tropea, Ssu-Ju Fu, Tanya M. Bardakjian, Pedro Gonzalez-Alegre, Bing-Wen Soong, Chih-Yung Tang, Chung-Jiuan Jeng
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 8247 (2021)
Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism un
Externí odkaz:
https://doaj.org/article/996c415dc9fb4ba39ba616c08338fe0b
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent target
Externí odkaz:
https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c
Publikováno v:
Journal of Huntington's Disease
Background Advances in molecular therapeutic approaches in the last decade are translating into the design of non-traditional clinical trials. In order to improve their feasibility, it is important to understand the attitudes of potential participant
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K. Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M. Bardakjian, Adele S. Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C. Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B. Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J. Jackson, Gabriele Gillessen-Kaesbach, Han G. Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R. FitzPatrick
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1002114.].
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa850ffce69513cac6e0692e7a9996ba
https://hdl.handle.net/11424/286224
https://hdl.handle.net/11424/286224
Autor:
Steven S. Scherer, Jessica Richardson, Lois Dankwa, Steve Courel, William W. Motley, Mena Scavina, Tanya M. Bardakjian, Stephan Züchner
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88ca47499241a3cfcf81e018adf9461
https://europepmc.org/articles/PMC6415944/
https://europepmc.org/articles/PMC6415944/
Autor:
Jeffrey B. Kopp, Brian P. Brooks, E. Lauren Doss, Eva H. Baker, Tanya S. Glaser, Bronwyn J. Bateman, Delphine Blain, Wadih M. Zein, Nancy Huynh, Carmen C. Brewer, David M. Lang, Irene H. Maumenee, Tanya M. Bardakjian, Suvimol Hill
Publikováno v:
American Journal of Ophthalmology. 156:1159-1168.e4
Purpose To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma. Design Cross-sectional observational study. Methods setting: Single-center ophthalmic genetics clinic. study population: Ninety-n