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

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

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

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

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

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

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

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

The Role of Interruptions in polyQ in the Pathology of SCA1

nork 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
Argitaratua 2013

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

nork 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.
Argitaratua izan da Brain (2016)

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

nork 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
Argitaratua izan da J Inherit Metab Dis (2014)

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

nork 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.
Argitaratua izan da Brain (2014)

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

nork 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.
Argitaratua izan da Eur Radiol (2015)

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

nork 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
Argitaratua izan da PLoS One (2016)

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

nork 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.
Argitaratua 2014

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

nork 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
Argitaratua izan da Hum Mutat (2012)

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

nork 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.
Argitaratua 2013

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

nork 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.
Argitaratua 2013

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

nork 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
Argitaratua 2014

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

nork 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
Argitaratua izan da 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...

nork 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
Argitaratua izan da Neurobiol Aging (2015)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

nork 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
Argitaratua izan da Front Cell Neurosci (2018)

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

nork 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.
Argitaratua izan da Hum Genet (2019)

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

nork 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
Argitaratua izan da Am J Hum Genet (2016)