Statistical characteristics of finger-tapping data in Huntington’s disease

por Antoniades, Chrystalina A., Ober, Jan, Hicks, Stephen, Siuda, Gill, Carpenter, R. H. S., Kennard, Christopher, Nemeth, Andrea H.
Publicado 2012

Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6

por Panouillères, Muriel T. N., Joundi, Raed A., Benitez-Rivero, Sonia, Cheeran, Binith, Butler, Christopher R., Németh, Andrea H., Miall, R. Chris, Jenkinson, Ned
Publicado 2017

Author Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6

por Panouillères, Muriel T. N., Joundi, Raed A., Benitez-Rivero, Sonia, Cheeran, Binith, Butler, Christopher R., Németh, Andrea H., Miall, R. Chris, Jenkinson, Ned
Publicado 2018

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

por Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Publicado 2021

Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant

por Gill, Jaidip S, Hardy, Steven A, Blakely, Emma L, Hopton, Sila, Nemeth, Andrea H, Fratter, Carl, Poulton, Joanna, Taylor, Robert W, Downes, Susan M
Publicado 2017

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

por Wong, Maggie M. K., Hoekstra, Stephanie D., Vowles, Jane, Watson, Lauren M., Fuller, Geraint, Németh, Andrea H., Cowley, Sally A., Ansorge, Olaf, Talbot, Kevin, Becker, Esther B. E.
Publicado 2018

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

por Ng, Yi Shiau, Hardy, Steven A., Shrier, Venice, Quaghebeur, Gerardine, Mole, David R., Daniels, Matthew J., Downes, Susan M., Freebody, Jane, Fratter, Carl, Hofer, Monika, Nemeth, Andrea H., Poulton, Joanna, Taylor, Robert W.
Publicado 2016

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

por Vilema-Enríquez, Gabriela, Quinlan, Robert, Kilfeather, Peter, Mazzone, Roberta, Saqlain, Saba, del Molino del Barrio, Irene, Donato, Annalidia, Corda, Gabriele, Li, Fengling, Vedadi, Masoud, Németh, Andrea H., Brennan, Paul E., Wade-Martins, Richard
Publicado 2021

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

por Southgate, Laura, Dafou, Dimitra, Hoyle, Jacqueline, Li, Nan, Kinning, Esther, Critchley, Peter, Németh, Andrea H., Talbot, Kevin, Bindu, Parayil S., Sinha, Sanjib, Taly, Arun B., Raghavendra, Seetharam, Müller, Ferenc, Maher, Eamonn R., Trembath, Richard C.
Publicado 2010

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Publicado 2017

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

por Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H., Ormondroyd, Elizabeth, Patel, Smita Y., Pagnamenta, Alistair T., Taylor, Jenny C., Thomson, Kate L., Watkins, Hugh, Wilkie, Andrew O. M., Knight, Julian C.
Publicado 2019

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

por Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bishop, Paul N., Roberts, Stephen A., Leach, Rick, Tearle, Rick, Bayliss, Stuart, Ramsden, Simon C., Nemeth, Andrea H., Black, Graeme C.M.
Publicado 2016

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

por Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R.
Publicado 2019

De novo point mutations in patients diagnosed with ataxic cerebral palsy

por Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Publicado 2015

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

por Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Publicado 2013

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

por Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Publicado 2021

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

por Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Publicado 2012

The Phenotypic Continuum of ATP1A3-Related Disorders

por Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E., Németh, Andrea H., Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A., Cross, J. Helen, Balasubramanian, Meena
Publicado 2022