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

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

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

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

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

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

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

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

The Role of Interruptions in polyQ in the Pathology of SCA1

le 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
Foilsithe 2013

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

le 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.
Foilsithe in Brain (2016)

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

le 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
Foilsithe in J Inherit Metab Dis (2014)

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

le 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.
Foilsithe in Brain (2014)

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

le 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.
Foilsithe in Eur Radiol (2015)

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

le 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
Foilsithe in PLoS One (2016)

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

le 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.
Foilsithe 2014

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

le 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
Foilsithe in Hum Mutat (2012)

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

le 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.
Foilsithe 2013

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

le 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.
Foilsithe 2013

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

le 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
Foilsithe 2014

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

le 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
Foilsithe in 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...

le 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
Foilsithe in Neurobiol Aging (2015)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

le 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
Foilsithe in Front Cell Neurosci (2018)

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

le 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.
Foilsithe in Hum Genet (2019)

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

le 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
Foilsithe in Am J Hum Genet (2016)