Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansSuperoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosisSpecies-specific transcription in mice carrying human chromosome 21Down syndrome: searching for the genetic culpritsALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaAn ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathyCytoplasmic dynein nomenclature.Genetic analysis of the cytoplasmic dynein subunit families.Intracerebral haemorrhage in Down syndrome: protected or predisposed?The importance of understanding individual differences in Down syndromeDissecting Alzheimer disease in Down syndrome using mouse modelsA genetic cause of Alzheimer disease: mechanistic insights from Down syndromeDeficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.Hippocampal circuit dysfunction in the Tc1 mouse model of Down syndrome.Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant miceMutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibitionModification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS)Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactionsMouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcriptsThe legs at odd angles (Loa) mutation in cytoplasmic dynein ameliorates mitochondrial function in SOD1G93A mouse model for motor neuron disease.A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis.A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouseBehavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse.A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicityAn additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model.Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndromeA genome-wide investigation of SNPs and CNVs in schizophrenia.ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome.Correlation of clinical and molecular features in spinal bulbar muscular atrophy.Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia seriesDisruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.Generation of a panel of antibodies against proteins encoded on human chromosome 21.Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brainTrisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.
P50
Q21092490-41C7C12E-4A61-47FA-84A4-BADBABCEC156Q21136374-450F05CC-6489-442A-973F-65BACD27B255Q22065859-39C2C107-A8E0-4BC3-925C-AE631A3F0B59Q22241596-5B276292-439D-4A23-87AD-68B91A289378Q24294908-3F8F5779-7BD1-4ABB-81E0-0373531DA272Q24309521-1E15EB35-8EDF-40BC-853A-5198042D1B80Q24651733-DAA15853-7A2F-43B2-BD41-F22FEE7E4CC5Q24679473-3BE8923B-8C40-4EFF-B3FB-C159E0FEE3B9Q25255725-7835883F-D4E2-45F8-9A57-EDF785F5F800Q26745369-219AB812-4DD2-4BC1-A5A6-14B9B2566131Q26750601-6E216E6A-E586-4A55-9760-1A8E8EC8BC47Q26777254-01C51AF9-14EB-4A3C-AE9F-D2812AD32321Q26798983-FFE213C7-F97E-4C10-AF2D-0F30DE455BD1Q27300826-8F857A86-E01E-4B20-889A-251B282E05ADQ27312111-D47316E5-49D2-4C70-B244-9E95D55823CCQ27346517-4E43BAB9-C6BA-454D-8B10-00317B909B66Q28302883-530C243E-A54F-41B2-AFA8-BFDF5FB1CCC6Q28473111-0156B756-2A95-4CA7-A7D2-AA63AAC8992CQ30433555-471EDB34-0B88-4628-994A-C5E514CA1A35Q30435410-1980BFFA-EB97-4FDA-B124-06C922AD0751Q30435889-AEBA3DA5-C71D-4B4E-951A-84C2D7432894Q30473769-02D3D482-8C97-407E-BBF8-A98F73DFAFF2Q30486893-9ED02867-BCE1-46F1-85CC-732A71C02846Q30496927-F6119C99-2663-4E30-B458-D1266E50AE22Q30500276-B93A3AAA-B817-4784-960B-A0B93739181AQ30626279-CBE32E72-CDF5-4439-A7EA-3508571DD1E1Q33307796-EBBBBAE3-92DB-417C-817A-842A3F37E05CQ33404261-FDFB147A-3CC6-498F-8DA7-15CE78426EE3Q33406258-1D5D6D26-C3F2-443D-A1CD-00C1F270BF49Q33531784-39464497-41AB-461C-82A1-F7EB62BB55F1Q33788720-F175C4F9-E7CA-4094-98B0-9D6BBDFAA792Q33823373-E7471052-EC56-4F60-BC0C-C2C733A81D10Q33831290-BD726D06-39F6-4EDE-8D33-B4E16F776E1BQ33832871-6F92E1E2-1128-46A1-BD56-5050FD93A02FQ33922335-75CE2102-EC87-4D25-825A-F0507BAB54CEQ33990273-F91BFA4F-713B-428A-8459-F3E1EFBB4DB2Q34114019-156279B9-E4BB-4236-BD22-7A768DA79BADQ34190049-21BFEF95-5756-4D71-B765-0B91FB167FE7Q34324347-1944891B-A157-4EF3-B377-67EC704F8B9CQ34430274-89F0F81E-1E72-4E77-9729-BBE55B99F676
P50
description
British geneticist
@en
British geneticist
@en-ca
British geneticist
@en-gb
genetista británica
@es
moleculair bioloog
@nl
neuroscientifique britannique
@fr
عالمة وراثة بريطانية
@ar
name
Elizabeth Fisher
@ast
Elizabeth Fisher
@de
Elizabeth Fisher
@es
Elizabeth Fisher
@fr
Elizabeth Fisher
@nl
Elizabeth Fisher
@sl
Elizabeth M. C. Fisher
@en
type
label
Elizabeth Fisher
@ast
Elizabeth Fisher
@de
Elizabeth Fisher
@es
Elizabeth Fisher
@fr
Elizabeth Fisher
@nl
Elizabeth Fisher
@sl
Elizabeth M. C. Fisher
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altLabel
E Fisher
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E M C Fisher
@en
E. Fisher
@en
E. M. C. Fisher
@en
Elizabeth Fisher
@en
Elizabeth M C Fisher
@en
Elizabeth M.C. Fisher
@fr
Elizabeth Mary Claire Fisher
@en
Elizabeth Mary Claire Fisher
@fr
Fisher E
@en
prefLabel
Elizabeth Fisher
@ast
Elizabeth Fisher
@de
Elizabeth Fisher
@es
Elizabeth Fisher
@fr
Elizabeth Fisher
@nl
Elizabeth Fisher
@sl
Elizabeth M. C. Fisher
@en
P2080
P21
P31
P496
0000-0003-2850-9936