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 em 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 em 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 no 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 no 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 em 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 no 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 no 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 no 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 no 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 no 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 em 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 no 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 em 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 em 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 em 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 no 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 no 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 no 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 no 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 no Am J Hum Genet (2016)