E
Elizabeth M. C. Fisher
Researcher at UCL Institute of Neurology
Publications - 320
Citations - 23496
Elizabeth M. C. Fisher is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Chromosome 21 & Gene. The author has an hindex of 74, co-authored 298 publications receiving 21150 citations. Previous affiliations of Elizabeth M. C. Fisher include University of Sussex & King's College London.
Papers
More filters
Journal ArticleDOI
Genealogies of mouse inbred strains.
Jon A. Beck,S E Lloyd,Majid Hafezparast,Moyha Lennon-Pierce,Janan T. Eppig,Michael F. W. Festing,Elizabeth M. C. Fisher +6 more
TL;DR: It is proposed that all genealogical and genetic data on inbred strains be submitted to a common electronic database to ensure this valuable information resource is preserved and used efficiently.
Journal ArticleDOI
The sex-determining region of the human Y chromosome encodes a finger protein
David C. Page,Rebecca Mosher,Elizabeth M. Simpson,Elizabeth M. C. Fisher,Graeme Mardon,Jonathan R. Pollack,Barbara McGillivray,Albert de la Chapelle,Laura G. Brown +8 more
TL;DR: The possibility that the Y-encoded finger protein is the testis-determining factor is discussed, and models of sex determination accommodating the finding of a related locus on the X chromosome are proposed.
Journal ArticleDOI
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
Derek C. Rogers,Elizabeth M. C. Fisher,Steve D.M. Brown,Josephine Peters,A. J. Hunter,Joanne E. Martin +5 more
TL;DR: The SHIRPA procedure is developed, which utilizes standardized protocols for behavioral and functional assessment that provide a sensitive measure for quantifying phenotype expression in the mouse, and can be refined to test the function of specific neural pathways, which will contribute to a greater understanding of neurological disorders.
Journal ArticleDOI
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Gaia Skibinski,Nicholas Parkinson,Jeremy M Brown,Lisa Chakrabarti,Lisa Chakrabarti,Sarah L Lloyd,Holger Hummerich,Jørgen E. Nielsen,Jørgen E. Nielsen,John R. Hodges,Maria Grazia Spillantini,Tove Thusgaard,Sebastian Brandner,Arne Brun,Martin N. Rossor,Anders Gade,Anders Gade,Peter Johannsen,Sven Asger Sørensen,Susanne Gydesen,Elizabeth M. C. Fisher,John Collinge +21 more
TL;DR: A mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, is identified and it is shown that it results in aberrant mRNA splicing in tissue samples from affected members of this family.
Journal ArticleDOI
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport
Majid Hafezparast,Rainer Klocke,Christiana Ruhrberg,Andreas Marquardt,Azlina Ahmad-Annuar,Samantha Bowen,Giovanna Lalli,Abi S. Witherden,Holger Hummerich,Sharon E. Nicholson,P. Jeffrey Morgan,Ravi Oozageer,John V. Priestley,Sharon Averill,V.R. King,Simon T. Ball,Jo Peters,Takashi Toda,Ayumu Yamamoto,Yasushi Hiraoka,Martin Augustin,Dirk Korthaus,Sigrid Wattler,Philipp Wabnitz,Carmen Dickneite,Stefan Lampel,Florian Boehme,Gisela Peraus,Andreas Popp,Martina Rudelius,Juergen Schlegel,Helmut Fuchs,Martin Hrabé de Angelis,Giampietro Schiavo,David T. Shima,Andreas Russ,Gabriele Stumm,Joanne E. Martin,Elizabeth M. C. Fisher +38 more
TL;DR: It is shown that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology.