Ese E. Mudanohwo
University College London
14 Papers
16 Citations
Ese E. Mudanohwo is an academic researcher from University College London. The author has contributed to research in topics: Mitochondrial disease & Trinucleotide repeat expansion. The author has an hindex of 10, co-authored 14 publications. Previous affiliations of Ese E. Mudanohwo include UCL Institute of Neurology.
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Papers
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
Vincent Plagnol,Mike A. Nalls,Jose Bras,Dena G. Hernandez,Dena G. Hernandez,M. Sharma,Una-Marie Sheerin,Mohamad Saad,Javier Simón-Sánchez,Claudia Schulte,Suzanne Lesage,Suzanne Lesage,Sigurlaug Sveinbjörnsdóttir,Philippe Amouyel,Philippe Amouyel,S. Arepalli,Roger A. Barker,C. Bellinguez,Yoav Ben-Shlomo,Henk W. Berendse,Daniela Berg,Kailash P. Bhatia,R. M. A. de Bie,Alessandro Biffi,Alessandro Biffi,B.R. Bloem,Zoltán Bochdanovits,Michael Bonin,Knut Brockmann,J. Brooks,David J. Burn,Gavin Charlesworth,Honglei Chen,Patrick F. Chinnery,Sean Chong,Carl E Clarke,Carl E Clarke,Mark R. Cookson,J. M. Cooper,Jean-Christophe Corvol,Carl Counsell,P. Damier,J. F. Dartigues,Panagiotis Deloukas,Günther Deuschl,David T. Dexter,K.D. van Dijk,Allissa Dillman,F. Durif,Alexandra Durr,Sarah Edkins,Jonathan R. Evans,Thomas Foltynie,Colin Freeman,Jianjun Gao,M. Gardner,J. R. Gibbs,J. R. Gibbs,A. Goate,Emma Gray,Rita Guerreiro,O. Gustafsson,Clare Elizabeth Harris,Garrett Hellenthal,J.J. van Hilten,Albert Hofman,Albert R. Hollenbeck,Janice L. Holton,Michele T.M. Hu,X. Huang,Heiko Huber,Gavin Hudson,Sarah E. Hunt,J. Huttenlocher,Thomas Illig,Palmi V. Jonsson,Cordelia Langford,Andrew J. Lees,Peter Lichtner,Patricia Limousin,Grisel Lopez,Delia Lorenz,Alisdair McNeill,C. Moorby,Matthew Moore,Huw R. Morris,Karen E. Morrison,Karen E. Morrison,Ese E. Mudanohwo,Sean S. O'Sullivan,J. P. Pearson,R. Pearson,Joel S. Perlmutter,H. Petursson,Matti Pirinen,Pierre Pollak,Bart Post,Simon C. Potter,Bernard Ravina,Tamas Revesz,O. Riess,Fernando Rivadeneira,Patrizia Rizzu,Mina Ryten,Stephen Sawcer,Peter Heutink,Nicholas W. Wood +106 more
TL;DR: Using a dataset of post-mortem brain samples assayed for gene expression and methylation, methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci are identified, suggesting potential molecular mechanisms and candidate genes at these risk loci.
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
Victoria Nesbitt,Robert D S Pitceathly,Douglass M. Turnbull,Robert W. Taylor,Mary G. Sweeney,Ese E. Mudanohwo,Shamima Rahman,Michael G. Hanna,Robert McFarland +8 more
TL;DR: The phenotypic spectrum associated with the m.3243A>G mtDNA mutation in MTTL1 is defined and guidelines for screening and for the management of confirmed cases are proposed.
222
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Davina J. Hensman Moss,Mark Poulter,Jon Beck,Jason Hehir,James M. Polke,Tracy Campbell,Garry Adamson,Ese E. Mudanohwo,Peter McColgan,A Haworth,Edward J. Wild,Mary G. Sweeney,Henry Houlden,Simon Mead,Sarah J. Tabrizi +14 more
TL;DR: The known phenotype of the C9orf72 expansion is extended in both age at onset and movement disorder symptoms, and a revised clinico-genetic algorithm is proposed for the investigation of HD phenocopy patients based on these data.
Huntington's disease phenocopies are clinically and genetically heterogeneous
Edward J. Wild,Ese E. Mudanohwo,Mary G. Sweeney,Susanne A. Schneider,Jon Beck,Kailash P. Bhatia,Martin N. Rossor,Mary B. Davis,Sarah J. Tabrizi +8 more
TL;DR: Patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients, as a definitive genetic diagnosis is currently possible in only a minority of cases.
129
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
Robert D S Pitceathly,Sinéad M. Murphy,E. Cottenie,Annapurna Chalasani,Mary G. Sweeney,Cathy E. Woodward,Ese E. Mudanohwo,Iain P. Hargreaves,Simon Heales,John M. Land,Janice L. Holton,Henry Houlden,Julian Blake,Julian Blake,Michael Champion,Frances Flinter,Stephanie A. Robb,Rupert Page,Michael Rose,Jacqueline Palace,Carol Crowe,Cheryl Longman,Michael P. Lunn,Shamima Rahman,Mary M. Reilly,Mary M. Reilly,Michael G. Hanna +26 more
TL;DR: Recognition that mutations in MT-ATP6 cause CMT2 enhances current understanding of the pathogenic basis of axonal neuropathy, and has important implications for diagnosis and genetic counseling.