J
Joanne E. Martin
Researcher at Queen Mary University of London
Publications - 130
Citations - 8938
Joanne E. Martin is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Myopathy. The author has an hindex of 39, co-authored 130 publications receiving 8428 citations. Previous affiliations of Joanne E. Martin include Royal London Hospital & University of Oxford.
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Journal ArticleDOI
A mouse Mecp2-null mutation causes neurological symptoms that mimic rett syndrome
TL;DR: The overlapping delay before symptom onset in humans and mice raises the possibility that stability of brain function, not brain development per se, is compromised by the absence of MeCP2, and generates mice lacking Mecp2 using Cre-loxP technology.
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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.
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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.
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A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.
Patrick M. Nolan,Josephine Peters,Mark A. Strivens,Derek C. Rogers,Jim J. Hagan,Nigel K. Spurr,Ian C. Gray,Lucie Vizor,D Brooker,E Whitehill,R Washbourne,Tertius Hough,Simon Greenaway,M Hewitt,Xue Zhong Liu,Stefan L. McCormack,K Pickford,R Selley,Christine A. Wells,Zuzanna Tymowska-Lalanne,P. Roby,Peter H. Glenister,C Thornton,Caroline Thaung,J A Stevenson,Ruth M. Arkell,Philomena Mburu,Rachel E. Hardisty,Amy E. Kiernan,Alexandra Erven,Karen P. Steel,Stéphanie Voegeling,Jean-Louis Guénet,Carole D. Nickols,R Sadri,M Nasse,Adrian M. Isaacs,Kay E. Davies,M Browne,Elizabeth M. C. Fisher,Joanne E. Martin,Sohaila Rastan,Steve D.M. Brown,Jackie Hunter +43 more
TL;DR: A genome-wide, phenotype-driven screen for dominant mutations in the mouse is undertaken, which has led to a substantial increase in themouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics.
Journal ArticleDOI
Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity.
Peter Leigh,H. Whitwell,O. Garofalo,J. Buller,Michael Swash,Joanne E. Martin,Jean-Marc Gallo,Roy O. Weller,Brian H. Anderton +8 more
TL;DR: It is concluded that the presence of ubiquitin-IR inclusions in lower motor neurons represents a characteristic pathological feature of ALS in its various clinical forms.