Clinical application of next-generation sequencing to the practice of neurology

le Rexach, Jessica, Lee, Hane, Martinez-Agosto, Julian A, Németh, Andrea H, Fogel, Brent L
Foilsithe in Lancet Neurol (2019)

Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa

le Anderson, David G., Németh, Andrea H., Fawcett, Katherine A., Sims, David, Miller, Jack, Krause, Amanda
Foilsithe in Mov Disord Clin Pract (2016)

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

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

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

le Lufino, Michele M.P., Silva, Ana M., Németh, Andrea H., Alegre-Abarrategui, Javier, Russell, Angela J., Wade-Martins, Richard
Foilsithe 2013

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

le Wadrup, Felicity, Holden, Simon, MacLeod, Rhona, Miedzybrodzka, Zosia, Németh, Andrea H., Owens, Shan, Pasalodos, Sara, Quarrell, Oliver, Clarke, Angus J.
Foilsithe in Eur J Hum Genet (2019)

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

le Panouillères, Muriel T. N., Joundi, Raed A., Benitez-Rivero, Sonia, Cheeran, Binith, Butler, Christopher R., Németh, Andrea H., Miall, R. Chris, Jenkinson, Ned
Foilsithe in Sci Rep (2017)

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

le Panouillères, Muriel T. N., Joundi, Raed A., Benitez-Rivero, Sonia, Cheeran, Binith, Butler, Christopher R., Németh, Andrea H., Miall, R. Chris, Jenkinson, Ned
Foilsithe in Sci Rep (2018)

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

le Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Clouston, Penny, Yu, Jing, MacLaren, Robert E., Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Foilsithe in JAMA Ophthalmol (2020)

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

le Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Foilsithe in BMC Ophthalmol (2021)

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

le Gill, Jaidip S, Hardy, Steven A, Blakely, Emma L, Hopton, Sila, Nemeth, Andrea H, Fratter, Carl, Poulton, Joanna, Taylor, Robert W, Downes, Susan M
Foilsithe in Br J Ophthalmol (2017)

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

le Németh, Andrea H., Bochukova, Elena, Dunne, Eimear, Huson, Susan M., Elston, John, Hannan, Mohammed A., Jackson, Matthew, Chapman, Cyril J., Taylor, A. Malcolm R.
Foilsithe 2000

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

le 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.
Foilsithe in Acta Neuropathol Commun (2018)

Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

le Jiménez de la Peña, Mar, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja-Pérez, Beatriz, Alcaraz, Luis A., Álvarez, Sara, Williams, Jonathan, Hagman, James R., Németh, Andrea H., Fernández-Jaén, Alberto
Foilsithe in Mol Syndromol (2021)

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

le 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.
Foilsithe in Neuromuscul Disord (2016)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

le 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.
Foilsithe in Am J Hum Genet (2017)

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

le 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
Foilsithe in J Biol Chem (2021)

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

le 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.
Foilsithe 2010

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

le 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.
Foilsithe in Am J Hum Genet (2017)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

le 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.
Foilsithe in Am J Hum Genet (2017)

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

le 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.
Foilsithe in Genome Med (2019)