Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
Webb, T. E. F., Poulter, M., Beck, J., Uphill, J., Adamson, G., Campbell, T., Linehan, J., Powell, C., Brandner, S., Pal, S., Siddique, D., Wadsworth, J. D., Joiner, S., Alner, K., Petersen, C., Hampson, S., Rhymes, C., Treacy, C., Storey, E., Geschwind, M. D., Nemeth, A. H., Wroe, S., Collinge, J., Mead, S.
Published in Brain (London, England : 1878) (01.10.2008)
Published in Brain (London, England : 1878) (01.10.2008)
Get full text
Journal Article
Alterations in the metabolic and cardiorespiratory response to exercise in Huntington's Disease
Steventon, J.J., Collett, J., Furby, H., Hamana, K., Foster, C., O'Callaghan, P., Dennis, A., Armstrong, R., Németh, A.H., Rosser, A.E., Murphy, K., Quinn, L., Busse, M., Dawes, H.
Published in Parkinsonism & related disorders (01.09.2018)
Published in Parkinsonism & related disorders (01.09.2018)
Get full text
Journal Article
Exercise testing and training in people with Huntington’s disease
Dawes, H, Collett, J, Debono, K, Quinn, L, Jones, K, Kelson, MJ, Simpson, SA, Playle, R, Backx, K, Wasley, D, Nemeth, AH, Rosser, A, Izardi, H, Busse, M
Published in Clinical rehabilitation (01.02.2015)
Published in Clinical rehabilitation (01.02.2015)
Get full text
Journal Article
Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21
Rubio, Justin P., Danek, Adrian, Stone, Caroline, Chalmers, Richard, Wood, Nicholas, Verellen, Christine, Ferrer, Xavier, Malandrini, Alessandro, Fabrizi, Gian M., Manfredi, Michela, Vance, Jefferey, Pericak-Vance, Margaret, Brown, Robert, Rudolf, Gabrielle, Picard, Fabienne, Alonso, Elisa, Brin, Mitchell, Németh, Andrea H., Farrall, Martin, Monaco, Anthony P.
Published in American journal of human genetics (01.10.1997)
Published in American journal of human genetics (01.10.1997)
Get full text
Journal Article
Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)
Németh, Andrea H., Nolte, Dagmar, Dunne, Eimear, Niemann, Stephan, Kostrzewa, Markus, Peters, Usha, Fraser, Eileen, Bochukova, Elena, Butler, Robin, Brown, Julie, Cox, Roger D., Levy, Elaine R., Ropers, Hans-Hilger, Monaco, Anthony P., Müller, Ulrich
Published in Genomics (San Diego, Calif.) (15.09.1999)
Published in Genomics (San Diego, Calif.) (15.09.1999)
Get full text
Journal Article
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Manfredi, Michela, Malandrini, Alessandro, Rampoldi, Luca, Ferrer, Xavier, Brown, Robert, Rudolf, Gabrielle, Németh, Andrea H, Alonso, Elisa, Vance, Jeffery, Wood, Nicholas W, Carrè, Sophie, Dobson-Stone, Carol, Danek, Adrian, Monaco, Anthony P, Rubio, Justin P, Verellen, Christine, Pericak-Vance, Margaret, Chalmers, Richard M, Fabrizi, Gian M
Published in Nature genetics (01.06.2001)
Published in Nature genetics (01.06.2001)
Get full text
Journal Article
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome
Glass, I A, Good, P, Coleman, M P, Fullwood, P, Giles, M G, Lindsay, S, Nemeth, A H, Davies, K E, Willshaw, H A, Fielder, A
Published in Journal of medical genetics (01.12.1993)
Published in Journal of medical genetics (01.12.1993)
Get full text
Journal Article
A prevalence study of primary dystonia in eight European countries
Published in Journal of neurology
(01.10.2000)
Get full text
Journal Article
Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature
Németh, Andrea H., Mills, Kerry R., Elston, John S., Williams, Adrian, Dunne, Eimear, Hyman, Nigel M.
Published in Movement disorders (01.09.1999)
Published in Movement disorders (01.09.1999)
Get full text
Journal Article
Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion
Németh, A H, Gallen, I W, Crocker, M, Levy, E, Maher, E
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
Get full text
Journal Article
A bidirectional YAC walk from the Norrie disease (NDP) locus
Black, Graeme C.M., Coleman, Michael P., Chen, Zheng-Yi, Nemeth, Andrea H., Davies, Kay E., Craig, Ian W.
Published in Genomics (San Diego, Calif.) (10.02.1995)
Published in Genomics (San Diego, Calif.) (10.02.1995)
Get full text
Journal Article
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
Get full text
Journal Article
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds
Lufino, Michele M P, Silva, Ana M, Németh, Andrea H, Alegre-Abarrategui, Javier, Russell, Angela J, Wade-Martins, Richard
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
Get full text
Journal Article
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration
Dunne, Eimear, Hyman, Nigel M., Huson, Susan M., Németh, Andrea H.
Published in Annals of neurology (01.05.1999)
Published in Annals of neurology (01.05.1999)
Get full text
Journal Article
A 1.8-Mb YAC Contig in Xp11.23: Identification of CpG Islands and Physical Mapping of CA Repeats in a Region of High Gene Density
Coleman, Michael P., Németh, Andrea H., Campbell, Louise, Raut, Chandrajit P., Weissenbach, Jean, Davies, Kay E.
Published in Genomics (San Diego, Calif.) (15.05.1994)
Published in Genomics (San Diego, Calif.) (15.05.1994)
Get full text
Journal Article
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34
Németh, Andrea H., Bochukova, Elena, Dunne, Eimear, Huson, Susan M., Elston, John, Hannan, Mohammed A., Jackson, Matthew, Chapman, Cyril J., Taylor, A. Malcolm R.
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
Get full text
Journal Article