Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions()

por Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C.
Publicado 2014

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

por Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria
Publicado 2012

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

por Nethisinghe, Suran, Pigazzini, Maria Lucia, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Manso, Katarina, Moore, David, Warner, Jon, Davis, Mary B., Giunti, Paola
Publicado en Front Cell Neurosci (2018)

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

por Kullar, Peter, Alston, Charlotte L., Ball, Sarah, Blakely, Emma L., Differ, Ann-Marie, Fratter, Carl, Sweeney, Mary G., Taylor, Robert W., Chinnery, Patrick F.
Publicado en Hearing Balance Commun (2016)

The Role of Interruptions in polyQ in the Pathology of SCA1

por Menon, Rajesh P., Nethisinghe, Suran, Faggiano, Serena, Vannocci, Tommaso, Rezaei, Human, Pemble, Sally, Sweeney, Mary G., Wood, Nicholas W., Davis, Mary B., Pastore, Annalisa, Giunti, Paola
Publicado 2013

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

por Tomlinson, Susan E., Tan, S. Veronica, Burke, David, Labrum, Robyn W., Haworth, Andrea, Gibbons, Vaneesha S., Sweeney, Mary G., Griggs, Robert C., Kullmann, Dimitri M., Bostock, Hugh, Hanna, Michael G.
Publicado en Brain (2016)

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

por Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, Joanna, Rahman, Shamima
Publicado en J Inherit Metab Dis (2014)

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

por Horga, Alejandro, Pitceathly, Robert D. S., Blake, Julian C., Woodward, Catherine E., Zapater, Pedro, Fratter, Carl, Mudanohwo, Ese E., Plant, Gordon T., Houlden, Henry, Sweeney, Mary G., Hanna, Michael G., Reilly, Mary M.
Publicado en Brain (2014)

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

por Pitceathly, Robert D. S., Morrow, Jasper M., Sinclair, Christopher D. J., Woodward, Cathy, Sweeney, Mary G., Rahman, Shamima, Plant, Gordon T., Ali, Nadeem, Bremner, Fion, Davagnanam, Indran, Yousry, Tarek A., Hanna, Michael G., Thornton, John S.
Publicado en Eur Radiol (2015)

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

por Rajakulendran, Sanjeev, Pitceathly, Robert D. S., Taanman, Jan-Willem, Costello, Harry, Sweeney, Mary G., Woodward, Cathy E., Jaunmuktane, Zane, Holton, Janice L., Jacques, Thomas S., Harding, Brian N., Fratter, Carl, Hanna, Michael G., Rahman, Shamima
Publicado en PLoS One (2016)

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

por Hensman Moss, Davina J., Poulter, Mark, Beck, Jon, Hehir, Jason, Polke, James M., Campbell, Tracy, Adamson, Garry, Mudanohwo, Ese, McColgan, Peter, Haworth, Andrea, Wild, Edward J., Sweeney, Mary G., Houlden, Henry, Mead, Simon, Tabrizi, Sarah J.
Publicado 2014

Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform

por Elson, Joanna L., Sweeney, Mary G., Procaccio, Vincent, Yarham, John W., Salas, Antonio, Kong, Qing-Peng, van der Westhuizen, Francois H., Pitceathly, Robert D.S., Thorburn, David R., Lott, Marie T., Wallace, Douglas C., Taylor, Robert W., McFarland, Robert
Publicado en Hum Mutat (2012)

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

por Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Publicado 2013

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

por Liu, Yo-Tsen, Laurá, Matilde, Hersheson, Joshua, Horga, Alejandro, Jaunmuktane, Zane, Brandner, Sebastian, Pittman, Alan, Hughes, Deborah, Polke, James M., Sweeney, Mary G., Proukakis, Christos, Janssen, John C., Auer-Grumbach, Michaela, Zuchner, Stephan, Shields, Kevin G., Reilly, Mary M., Houlden, Henry
Publicado 2014

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism()

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado en Neurobiol Aging (2015)

Erratum to “The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism” [Neurobiol. Aging 36 (2015) 122...

por Schottlaender, Lucia V., Polke, James M., Ling, Helen, MacDoanld, Nicola D., Tucci, Arianna, Nanji, Tina, Pittman, Alan, de Silva, Rohan, Holton, Janice L., Revesz, Tamas, Sweeney, Mary G., Singleton, Andy B., Lees, Andrew J., Bhatia, Kailash P., Houlden, Henry
Publicado en Neurobiol Aging (2015)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

por Nethisinghe, Suran, Lim, Wei N., Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P., Bhatia, Kailash P., Wood, Nicholas W., Hardy, John, Polke, James M., Veneziano, Liana, Brusco, Alfredo, Davis, Mary B., Giunti, Paola
Publicado en Front Cell Neurosci (2018)

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

por Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., Hanna, Michael G.
Publicado en Hum Genet (2019)

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

por Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Publicado en Am J Hum Genet (2016)