Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Mary G Sweeney"'
Autor:
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145500 (2016)
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism
Externí odkaz:
https://doaj.org/article/ec6375b1818241cab0f1ce4c29b4eb0c
Autor:
Rajesh P Menon, Suran Nethisinghe, Serena Faggiano, Tommaso Vannocci, Human Rezaei, Sally Pemble, Mary G Sweeney, Nicholas W Wood, Mary B Davis, Annalisa Pastore, Paola Giunti
Publikováno v:
PLoS Genetics, Vol 9, Iss 7, p e1003648 (2013)
At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold
Externí odkaz:
https://doaj.org/article/160e066247634585a377f084b98468ee
Autor:
Dimitri M. Kullmann, Mary G. Sweeney, Andrea Haworth, Richa Sud, S. McCall, Roope Männikkö, K. Suetterlin, Dipa Jayaseelan, Emma Matthews, James Burge, Stephanie Schorge, Doreen Fialho, Michael G. Hanna
Publikováno v:
Brain. 145:607-620
High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical and genetic counsel
Autor:
Enrico Bugiardini, M. Parton, C Woodward, Robert D S Pitceathly, Henry Houlden, Tony Brooks, Mary G. Sweeney, James M. Polke, Shamima Rahman, Mary M. Reilly, Ruth M Brown, Elena Remzova, Isabel Pareés, Federico Gago, Garry K. Brown, Michael G. Hanna, Alejandro Horga, Andreea Manole, Iain P. Hargreaves, Alberto Mills
Publikováno v:
Human Genetics
Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivi
Autor:
Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct
Autor:
Aisling Carr, Tina Nanji, Mary M. Reilly, James M. Polke, Henry Houlden, Julian Blake, James Holt, Mary G. Sweeney, Jennifer Vaughan, Ana L. Pelayo-Negro, Julia Rankin, Jacob Wilson, Matilde Laura
Publikováno v:
Journal of the Peripheral Nervous System. 20:67-71
Mitofusin 2 (MFN2) mutations are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). The majority are inherited in an autosomal dominant manner but recessive and semi-dominant kindreds have also been described. We previously reported
Autor:
Kathrin Reetz, Wolfgang Nachbauer, Ana Sofia Costa, Thomas Klopstock, Marta Panzeri, Alexandra Durr, Michael H Parkinson, Katrin Bürk, Javier Arpa, Jörg B. Schulz, Lorenzo Nanetti, Kathrin Fedosov, Manuel Dafotakis, Chantal Depondt, Imis Dogan, Thomas Klockgether, Massimo Pandolfo, Sylvia Boesch, Perrine Charles, Ilaria Giordano, Ludger Schöls, Jennifer Müller vom Hagen, Ivan Karin, Paola Giunti, Mary G. Sweeney, Irene Sanz-Gallego, Caterina Mariotti
Publikováno v:
The lancet / Neurology 14(2), 174-182 (2015). doi:10.1016/S1474-4422(14)70321-7
Summary Background Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedrei
Autor:
Carl Fratter, Ese E. Mudanohwo, Gordon T. Plant, Pedro Zapater, Henry Houlden, C Woodward, Mary G. Sweeney, Julian Blake, Michael G. Hanna, Robert D S Pitceathly, Mary M. Reilly, Alejandro Horga
Publikováno v:
Brain
Mitochondrial ophthalmoplegia is a genetically heterogeneous disorder. Horga et al. investigate whether peripheral neuropathy can predict the underlying genetic defect in patients with progressive external ophthalmoplegia. Results indicate that neuro
Autor:
Christos Proukakis, Alan M. Pittman, Michaela Auer-Grumbach, Henry Houlden, Kevin G. Shields, Mary M. Reilly, James M. Polke, Alejandro Horga, Joshua Hersheson, Stephan Züchner, Matilde Laura, Zane Jaunmuktane, Mary G. Sweeney, Yo Tsen Liu, John C. Janssen, Deborah Hughes, Sebastian Brandner
Publikováno v:
Neurology. 83:612-619
Objective: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2). Methods: K
Autor:
Mary G. Sweeney, Iain P. Hargreaves, Yehani Wedatilake, Robert D S Pitceathly, Henry Houlden, Matthew E. Hurles, Jim Stalker, Shamima Rahman, Sebahattin Cirak, James M. Polke, A Sailer, Francesco Muntoni, A. Reghan Foley, Jan-Willem Taanman, Cathy E. Woodward, Michael G. Hanna
Publikováno v:
Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)
Cell Reports, Vol 4, Iss 2, p 402 (2013)
Cell Reports
Cell Reports, Vol 4, Iss 2, p 402 (2013)
Cell Reports
Summary The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency