Elizabeth Fisher
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British geneticist
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Elizabeth Fisher 's Degrees
- Bachelors Biology University of Oxford
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(Suggest an Edit or Addition)According to Wikipedia, Elizabeth Mary Claire Fisher is a British geneticist and Professor at University College London. Her research investigates the degeneration of motor neurons during amyotrophic lateral sclerosis and Alzheimer's disease triggered by Down syndrome.
Elizabeth Fisher 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Genealogies of mouse inbred strains (2000) (839)
- The sex-determining region of the human Y chromosome encodes a finger protein (1987) (816)
- Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment (1997) (786)
- Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia (2005) (764)
- Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport (2003) (719)
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse (2000) (682)
- Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease (2007) (608)
- Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse (2003) (607)
- C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins (2014) (569)
- A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia (2009) (462)
- An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes (2005) (417)
- Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome (1990) (395)
- A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome (2015) (393)
- Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics (2003) (390)
- Molecular mapping of alzheimer‐type dementia in Down's syndrome (1998) (358)
- The origins and uses of mouse outbred stocks (2005) (357)
- Genetic Analysis of the Cytoplasmic Dynein Subunit Families (2006) (308)
- C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes (2012) (295)
- Species-Specific Transcription in Mice Carrying Human Chromosome 21 (2008) (292)
- Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans (2007) (272)
- Is SOD1 loss of function involved in amyotrophic lateral sclerosis? (2013) (256)
- A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice (2005) (254)
- Down syndrome—recent progress and future prospects (2009) (237)
- FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration (2010) (230)
- Evidence that a locus for familial psoriasis maps to chromosome 4q (1996) (218)
- Rodent models of amyotrophic lateral sclerosis. (2013) (208)
- Identification of multiple quantitative trait loci linked to prion disease incubation period in mice (2001) (204)
- SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice (2001) (199)
- Eighth International Workshop on Human Gene Mapping (1984) (195)
- Human haploinsufficiency — one for sorrow, two for joy (1994) (188)
- A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice (2009) (187)
- Cytoplasmic dynein nomenclature (2005) (185)
- Faculty Opinions recommendation of Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. (2011) (177)
- Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations (2010) (176)
- Turner syndrome: the case of the missing sex chromosome. (1993) (168)
- Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci. (1996) (161)
- Application of neurite orientation dispersion and density imaging (NODDI) to a tau pathology model of Alzheimer's disease (2016) (148)
- CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. (2008) (147)
- The importance of understanding individual differences in Down syndrome (2016) (145)
- Superoxide Dismutase 1 and tgSOD1G93A Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis (2010) (142)
- Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia (2013) (141)
- DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. (2008) (140)
- A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
- SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments (2011) (129)
- Down syndrome: searching for the genetic culprits (2011) (124)
- Rodent models in Down syndrome research: impact and future opportunities (2017) (121)
- Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource (2000) (118)
- Cytoplasmic dynein heavy chain: the servant of many masters (2013) (115)
- Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis (2018) (105)
- Species-specific pace of development is associated with differences in protein stability (2020) (105)
- SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology (2015) (104)
- Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. (2008) (101)
- The frequency and position of Alu repeats in cDNAs, as determined by database searching. (1995) (100)
- Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. (2012) (99)
- Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years (2018) (98)
- A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis (2011) (93)
- Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome (2013) (89)
- Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female (1990) (88)
- An 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 neuropathy (2009) (88)
- A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes (2016) (87)
- Tumour angiogenesis is reduced in the Tc1 mouse model of Down Syndrome (2010) (86)
- Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome (2009) (85)
- Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice (2017) (84)
- TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (2022) (83)
- Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP (2018) (83)
- Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP (2018) (83)
- Genomically humanized mice: technologies and promises (2011) (82)
- Down syndrome genetics: unravelling a multifactorial disorder. (1996) (81)
- TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander (2008) (78)
- A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3. (1998) (75)
- Quiet mutations in inbred strains of mice. (2007) (72)
- Correlation of clinical and molecular features in spinal bulbar muscular atrophy (2014) (71)
- Novel phenotypes identified by plasma biochemical screening in the mouse (2002) (70)
- Examination of the human prion protein-like gene Doppel for genetic susceptibility to sporadic and variant Creutzfeldt–Jakob disease (2000) (69)
- Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice (2002) (68)
- Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel (2015) (67)
- Humanising the mouse genome piece by piece (2019) (65)
- Modification of Superoxide Dismutase 1 (SOD1) Properties by a GFP Tag – Implications for Research into Amyotrophic Lateral Sclerosis (ALS) (2010) (65)
- Maintenance of mitochondrial morphology is linked to maintenance of the mitochondrial genome in Saccharomyces cerevisiae. (2002) (64)
- Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. (2020) (62)
- The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome (1987) (62)
- Health comorbidities and cognitive abilities across the lifespan in Down syndrome (2020) (62)
- Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome (2018) (61)
- Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis (2019) (59)
- Automatic Structural Parcellation of Mouse Brain MRI Using Multi-Atlas Label Fusion (2014) (59)
- Molecular Genetic Characterisation of Frontotemporal Dementia on Chromosome 3 (1999) (58)
- A Motor-Driven Mechanism for Cell-Length Sensing (2012) (58)
- Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. (2010) (58)
- The Grb2 binding domain of mSos1 is not required for downstream signal transduction (1995) (58)
- Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion (2015) (57)
- Microcell-mediated chromosome transfer (MMCT): small cells with huge potential (2003) (57)
- Microdissection and microcloning of the mouse X chromosome. (1985) (57)
- Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? (1994) (56)
- Tenth International Workshop on Human Gene Mapping (1988) (53)
- Tumour angiogenesis is reduced in the Tc1 mouse model of Down’s syndrome (2010) (53)
- A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity (2014) (52)
- Altered regulation of tau phosphorylation in a mouse model of down syndrome aging (2012) (52)
- Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse (2010) (50)
- Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy (2000) (48)
- Mouse Cytoplasmic Dynein Intermediate Chains: Identification of New Isoforms, Alternative Splicing and Tissue Distribution of Transcripts (2010) (48)
- MUTATIONS IN THE GABRB1 GENE PROMOTE ALCOHOL CONSUMPTION THROUGH INCREASED TONIC INHIBITION (2013) (47)
- Mouse autosomal trisomy: two's company, three's a crowd. (1999) (47)
- An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 (1995) (47)
- Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain (2013) (46)
- FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention (2020) (46)
- An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. (1995) (44)
- Dissecting Alzheimer disease in Down syndrome using mouse models (2015) (44)
- Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome (2010) (42)
- Large-scale pathways-based association study in amyotrophic lateral sclerosis. (2007) (41)
- Alterations to Dendritic Spine Morphology, but Not Dendrite Patterning, of Cortical Projection Neurons in Tc1 and Ts1Rhr Mouse Models of Down Syndrome (2013) (41)
- Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene (1997) (40)
- Mice, the Motor System, and Human Motor Neuron Pathology (2000) (39)
- Mouse models of neurodegeneration: Know your question, know your mouse (2019) (39)
- Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes (2020) (38)
- Hippocampal circuit dysfunction in the Tc1 mouse model of Down syndrome (2015) (38)
- Cytoplasmic dynein could be key to understanding neurodegeneration (2008) (38)
- Mouse models for neurological disease (2002) (37)
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
- Neurodegenerative Mutation in Cytoplasmic Dynein Alters Its Organization and Dynein-Dynactin and Dynein-Kinesin Interactions* (2010) (36)
- Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy☆ (2014) (33)
- Imaging the accumulation and suppression of tau pathology using multiparametric MRI (2016) (33)
- Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 gene. (1998) (33)
- Behavioral and Other Phenotypes in a Cytoplasmic Dynein Light Intermediate Chain 1 Mutant Mouse (2011) (32)
- Structural correlates of active-staining following magnetic resonance microscopy in the mouse brain (2011) (32)
- Intracerebral haemorrhage in Down syndrome: protected or predisposed? (2016) (32)
- Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2020) (31)
- Comparison of In Vivo and Ex Vivo MRI for the Detection of Structural Abnormalities in a Mouse Model of Tauopathy (2017) (30)
- Identification and characterization of a novel mouse prion gene allele (2004) (29)
- The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome (2011) (29)
- The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12 (2005) (29)
- Evidence for evolutionary divergence of activity-dependent gene expression in developing neurons (2016) (29)
- Unusual molecular characteristics of a repeat sequence island within a Giemsa-positive band on the mouse X chromosome. (1990) (28)
- The Legs at odd angles (Loa) Mutation in Cytoplasmic Dynein Ameliorates Mitochondrial Function in SOD1G93A Mouse Model for Motor Neuron Disease* (2010) (28)
- No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders (2003) (28)
- Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration (2018) (27)
- Increased Cerebral Vascular Reactivity in the Tau Expressing rTg4510 Mouse: Evidence against the Role of Tau Pathology to Impair Vascular Health in Alzheimer's Disease (2015) (27)
- Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization (2021) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- Towards a mutant map of the mouse – new models of neurological, behavioural, deafness, bone, renal and blood disorders (2004) (25)
- FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation (2020) (24)
- Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome (2019) (24)
- Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis (2013) (24)
- Mighty mice (2000) (22)
- DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. (2014) (21)
- Mouse models as a tool for understanding neurodegenerative diseases (2003) (21)
- ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2 (2010) (21)
- Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory (2016) (21)
- Gene expression dysregulation domains are not a specific feature of Down syndrome (2019) (21)
- Mapping GRB2, a signal transduction gene in the human and the mouse. (1994) (20)
- An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model (2007) (20)
- Quantitative Proteomics Characterization of a Mouse Embryonic Stem Cell Model of Down Syndrome*S (2009) (20)
- A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects (2014) (20)
- Localisation of receptor interacting protein140 (RIP140) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome (1998) (19)
- Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice (2012) (18)
- Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1G93A Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice (2009) (18)
- Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1) (1997) (18)
- The DAD1 protein, whose defect causes apoptotic cell death, maps to human chromosome 14. (1995) (18)
- Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma 2 in the human and the mouse. (1994) (18)
- Rps4 maps near the inactivation center on the mouse X chromosome. (1992) (17)
- Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia (2009) (17)
- New techniques to understand chromosome dosage: mouse models of aneuploidy. (2006) (17)
- The contribution of the mouse to advances in human genetics. (1997) (17)
- The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome (1996) (16)
- Ain't misbehavin' - it's genetic! (1996) (16)
- Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus (2019) (16)
- Mouse Models of Aneuploidy (2012) (16)
- Centennial of Wilhelm Waldeyer’s introduction of the term “chromosome” (1988) (16)
- A novel phenotype for the dynein heavy chain mutation Loa: Altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons (2012) (16)
- Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. (2002) (15)
- Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology. (1990) (15)
- New approaches for modelling sporadic genetic disease in the mouse (2009) (15)
- Down ’ s syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc 1 mouse (2010) (15)
- Prion disease incubation time is not affected in mice heterozygous for a dynein mutation. (2004) (15)
- The integration site of the APP transgene in the J20 mouse model of Alzheimer's disease. (2017) (15)
- Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions☆ (2014) (14)
- Uses for humanised mouse models in precision medicine for neurodegenerative disease (2019) (14)
- Translating molecular advances in Down syndrome and Fragile X syndrome into therapies (2017) (14)
- ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity (2021) (14)
- Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series (2010) (14)
- Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration (2015) (14)
- Fully-Automated μMRI Morphometric Phenotyping of the Tc1 Mouse Model of Down Syndrome (2016) (13)
- Aging rather than aneuploidy affects monoamine neurotransmitters in brain regions of Down syndrome mouse models (2017) (13)
- Frontotemporal Dementia Linked to Chromosome 3 (2004) (13)
- A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome (2021) (13)
- Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes. (1993) (12)
- An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the 'Legs at odd angles' (Loa) mutation. (2002) (12)
- High-resolution comparative physical mapping of mouse Chromosome 10 in the region of homology with human Chromosome 21 (1999) (11)
- Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome (2020) (11)
- Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis (2012) (10)
- Species-specific developmental timing is associated with global differences in protein stability in mouse and human (2019) (10)
- Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution. (1988) (10)
- Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5 (1995) (10)
- Graphical modelling of molecular networks underlying sporadic inclusion body myositis. (2013) (10)
- Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21 (2010) (9)
- No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach (2006) (9)
- High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. (1998) (9)
- Remote and Selective Control of Astrocytes by Magnetomechanical Stimulation (2021) (9)
- Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes (2021) (9)
- Maternal iron deficiency perturbs embryonic cardiovascular development in mice (2021) (9)
- CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. (2016) (8)
- FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration (2010) (8)
- NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease (2021) (8)
- DYNLRB1 is essential for dynein mediated transport and neuronal survival (2019) (8)
- Exploring the genetic origins of Treacher Collins syndrome (2011) (8)
- ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo (2018) (8)
- Perturbed hematopoiesis in the Tc 1 mouse model of Down syndrome (2010) (7)
- Prions and the prion disorders (1998) (7)
- The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease (2017) (6)
- Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models (2020) (6)
- The long-range mapping of mammalian chromosomes. (1988) (6)
- CHCHD 10 Pro 34 Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia (2016) (6)
- TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. (2018) (6)
- The gene that encodes the phosphatidylinositol-3 kinase regulatory subunit (p85 alpha) maps to chromosome 13 in the mouse. (1994) (5)
- FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion (2013) (5)
- Mapping the valosin-containing protein (VCP) gene on human Chromosome 9 and mouse Chromosome 4, and a likely pseudogene on the mouse X Chromosome (1997) (4)
- In vivo and ex vivo analyses of amyloid toxicity in the Tc1 mouse model of Down syndrome (2017) (4)
- Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome – a comprehensive morphometric analysis with active staining contrast-enhanced MRI (2020) (4)
- FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention (2019) (3)
- A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1 (1995) (3)
- The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration (1999) (3)
- Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models (2021) (3)
- Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2021) (3)
- Mouse models of aneuploidy to understand chromosome disorders (2021) (3)
- The SHB adaptor protein maps to human chromosome 9. (1994) (3)
- Correction: Mouse Cytoplasmic Dynein Intermediate Chains: Identification of New Isoforms, Alternative Splicing and Tissue Distribution of Transcripts (2010) (3)
- A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits (2021) (3)
- Three Novel Pigmentation Mutants Generated by Genome-Wide Random ENU Mutagenesis in the Mouse (2004) (3)
- A step forward on the path towards understanding osteoporosis (2011) (3)
- Maternal iron deficiency perturbs embryonic cardiovascular development (2020) (2)
- The use of mouse models to probe cytoplasmic dynein function (2018) (2)
- RNA-binding protein network alteration causes aberrant axon branching and growth phenotypes in FUS ALS mutant motoneurons (2020) (2)
- An unusual presentation for SOD1‐ALS: Isolated facial diplegia (2013) (2)
- Application of high-resolution landmark-free morphometrics to a mouse model of Down Syndrome reveals a tightly localised cranial phenotype (2019) (2)
- Abstracts of papers presented at the twelfth Genetical Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 5–7 December 2001 (2001) (2)
- A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome. (2021) (2)
- Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs (2020) (2)
- Abstracts of papers presented at the thirteenth Genetics Societys Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 27 and 28 November 2002 (2003) (2)
- Abstracts of papers presented at the eighteenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 29 and 30 November 2007: Sponsored by: The Genetics Society and Mammalian Genome (2008) (2)
- A landmark-free morphometrics pipeline: Application to characterise a Down syndrome model skull phenotype (2019) (1)
- Faculty Opinions recommendation of Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. (2011) (1)
- Generation of a panel of antibodies against proteins encoded on human chromosome 21 (2010) (1)
- Grey Matter Sublayer Thickness Estimation in the Mouse Cerebellum (2015) (1)
- A MUTATION OF THE CYTOPLASMIC DYNEIN HEAVY CHAIN GENE Dync1h1 CAUSES A SEVERE SENSORY NEUROPATHY (2009) (1)
- Deletion studies in the gammy mouse. (2003) (1)
- Mouse autosomal trisomy company, three's a crowd (1999) (1)
- O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene (2011) (1)
- A specific subtype of Infantile Parkinsonism‐dystonia identified (2011) (1)
- Genetic mapping of APP and amyloid-β biology modulation by trisomy 21 (2022) (1)
- Correction: Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1G93A Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice (2009) (1)
- Trisomy of human chromosome 21 enhances amyloid-beta 3 deposition independently of an extra copy of APP (vol 141, pg 2457, 2018) (2019) (1)
- The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model (2021) (1)
- Abstracts of papers presented at the fifteenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 22 and 23 November 2004 (2006) (1)
- Tensor based morphometry on the Tc 1 mouse model of Down syndrome highlights previously undetected phenotypes (2010) (1)
- Subject Index Vol. 17, 2004 (2004) (1)
- Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21 (1997) (1)
- Deletion at ITPR1 underlies ataxia in mice and humans (SCA15) (2005) (1)
- Three novel pigmentation mutants generated by genome-wide random ENU mutagenesis in the mouse: Short Communications (2004) (1)
- Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome (2004) (1)
- Pro fi lin 1 E 117 G is a moderate risk factor for amyotrophic lateral sclerosis (2013) (1)
- A homologue of the Drosophila Son of sevenless gene maps to mouse chromosome 17. (1993) (1)
- How does the genetic assassin select its neuronal target? (2011) (1)
- Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease (2019) (0)
- O1-04-02 Brain cortical thickness in an FTD3 patient and mutation carriers (2006) (0)
- DYNAMIC CONTRAST-ENHANCED MRI TO ASSESS GLYMPHATIC FUNCTION IN THE NL-F MOUSE MODEL OF ALZHEIMER’S DISEASE (2019) (0)
- A multiscale MRI approach to investigate novel drug treatment strategies in mouse models of Alzheimer's disease (2015) (0)
- Defective axonal retrograde transport of signaling endosomes and MAP kinase signaling in a mouse model of autosomal dominant spinal muscular atrophy (2014) (0)
- TRISOMY 21 CAUSES A DEFICIT IN LYSOSOMAL CATHEPSINS AND ALTERS APP/Aβ PROCESSING, INDEPENDENTLY OF AN EXTRA COPY OF APP (2017) (0)
- A multi-scale MRI approach to investigate novel drug treatment strategies in mouse models of Alzheimer's disease (2015) (0)
- [P2.56] Cortical projection neuron dendrite morphology in the Tc1 mouse model of Down Syndrome (2010) (0)
- Endosomal structure and APP biology are not altered in preclinical cellular models of Down syndrome (2021) (0)
- Highly polymorphic sequence at D21S1448 mapping close to D21S55, within the Down syndrome critical region (1995) (0)
- Abstracts of papers presented at the tenth Mammalian Genetics and Development Workshop (Incorporating the Promega Young Geneticists' Meeting) held at the Institute of Child Health, University College London on 17–19 November 1999 (2000) (0)
- NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models (2020) (0)
- Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models (2021) (0)
- Gene expression dysregulation domains are not a specific feature of Down syndrome (2019) (0)
- Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society (2021) (0)
- Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome (2022) (0)
- Cognitive impairments in a Down syndrome model with abnormal hippocampal and prefrontal dynamics and cytoarchitecture (2023) (0)
- Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus (2019) (0)
- Building the future therapies for DS : The Third International Conference of the T 21 Research Society (2021) (0)
- Health comorbidities and cognitive abilities across the lifespan in Down syndrome (2020) (0)
- LETTER TO THE EDITOR CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia (2016) (0)
- Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models (2022) (0)
- Uses for humanised mouse models in precision medicine for neurodegenerative disease (2019) (0)
- Humanising the mouse genome piece by piece (2019) (0)
- TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (2022) (0)
- Towards an integrated chromosome 21 map: progress of the European chromosome 21 consortium. (1996) (0)
- MN13 Investigating dysfunctional RNA processing in TDP-43 mouse mutants (2017) (0)
- MND05 Dissecting TDP-43 gain- and loss-of-function in neurodegeneration (2018) (0)
- Opinion: more mouse models and more translation needed for ALS (2023) (0)
- The Legs at odd angles (Loa) mutation in cytoplasmic dynein impairs TrkB-BDNF endocytic transport in motor neurons (2009) (0)
- Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models (2021) (0)
- Association of Dementia Owing to Alzheimer Disease With Mortality Rates Among Adults With Down Syndrome Older Than 35 Years (2018) (0)
- Using human frameshift mutations to dissect the pathobiology of ALS (2016) (0)
- Faculty Opinions recommendation of Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility. (2020) (0)
- Faculty Opinions recommendation of Apical dendrite degeneration, a novel cellular pathology for Betz cells in ALS. (2017) (0)
- Faculty of 1000 evaluation for Modeling human disease in rodents by CRISPR/Cas9 genome editing. (2017) (0)
- Author response: Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel (2015) (0)
- STAGEAMYLOID PATHOLOGY: DYNAMIC CONTRAST-ENHANCED MRI IN THE J20 P1-369 GLYMPHATIC FUNCTION DURING EARLY MOUSE MODEL OFALZHEIMER’S DISEASE (2018) (0)
- Faculty Opinions recommendation of ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function. (2016) (0)
- Faculty Opinions recommendation of Phenotype in an Infant with SOD1 Homozygous Truncating Mutation. (2019) (0)
- Application of high-resolution landmark-free morphometrics to a 1 mouse model of Down Syndrome reveals a tightly localised cranial 2 phenotype 3 4 5 (2020) (0)
- Correction: Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel (2020) (0)
- Faculty Opinions recommendation of SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. (2019) (0)
- Cellular and molecular characterization of abnormal rear leg (Arl) - a new mouse strain with a point mutation in cytoplasmic dynein (2009) (0)
- Faculty Opinions recommendation of Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations. (2010) (0)
- Faculty Opinions recommendation of Caspase-3 triggers early synaptic dysfunction in a mouse model of Alzheimer's disease. (2011) (0)
- Genetic Insights into Mammalian Cytoplasmic Dynein Function Provided by Novel Mutations in the Mouse (2012) (0)
- transgenic mouse, which models human amyotrophic lateral sclerosis (2011) (0)
- Generation, quality control, and analysis of the first genomically humanised knock-in mice for the ALS/FTD genes SOD1, TARDBP (TDP-43), and FUS (2021) (0)
- Altered Hippocampal-Prefrontal Neural Dynamics in models of Down Syndrome (2019) (0)
- Dementia and neurodegeneration : Challenges and opportunities Fundamental research : From molecules to neural circuitry (2013) (0)
- Genetic dissection of triplicated Hsa21 orthologs produces differential skeletal phenotypes in Down syndrome mouse models. (2023) (0)
- ALS-FUS mutation affects the activities of HuD/ELAVL4 and FMRP leading to axon phenotypes in motoneurons (2021) (0)
- Faculty of 1000 evaluation for More than cholesterol transporters: lipoprotein receptors in CNS function and neurodegeneration. (2014) (0)
- Subcellular functional specificity of dynein-dynactin complex subunits - normal distribution and disturbances in neurodegenerative disease (2006) (0)
- Towards a systematic screen of cytoplasmic dynein-dynactin genes and other candidates for association with motor neuron degeneration disorders by tagging SNP analysis. (2005) (0)
- Mouse models of neurodegeneration in the age of personalised medicine: know your question, know your mouse. (2019) (0)
- Craniofacial dysmorphology in Down Syndrome is caused by increased dosage of Dyrk1a and at least three other genes (2022) (0)
- ciency of the zinc fi nger protein ZFP 106 causes motor and sensory neurodegeneration (2016) (0)
- Optimised μ MRI for Phenotyping the Tc 1 Model of Down Syndrome (2009) (0)
- Mouse phenotyping using high resolution 3D microscopic magnetic resonance imaging (2011) (0)
- A newly engineered high-resolution mapping panel to identify dosage-sensitive genes in Down syndrome-associated heart defects (2014) (0)
- Cerebral blood flow deficits in the Tc 1 mouse model of Down ’ s syndrome (2013) (0)
- Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21. (2020) (0)
- Linkage disequilibrium and haplotype mapping of the human cytoplasmic dynein heavy chain 1 gene on chromosome 14q32 (2003) (0)
- P32 Investigating novel mutant mouse models of motor neuron disease (2010) (0)
- A myeloproliferative disorder in the Tc1 mouse model of Down syndrome (2008) (0)
- Faculty Opinions recommendation of Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers. (2018) (0)
- Preface: Lars Gustafson, Lund; Arne Brun, Lund (1999) (0)
- The effects of CSTB duplication on APP/amyloid-β pathology and cathepsin activity in a mouse model (2020) (0)
- BIROn-Birkbeck Institutional Research Online Wiseman, F. and Fisher, E. and Al_Janabi, T. and Hardy, J. and Karmiloff- Smith, Annette and Nizetic, D. and Tybulewicz, V. and Strydom, A. (2015) A genetic cause of Alzheimer disease: mechanistic insights from Down (2019) (0)
- Correction and Clarification: Unusual Molecular Characteristics of a Repeat Sequence Island within a Giemsa-Positive Band on the Mouse X Chromosome (1990) (0)
- syndromeshort-term impairments in the Tc 1 mouse model of Down Preservation of long-term memory and synaptic plasticity despite (2008) (0)
- A new mouse mutant, skijumper (2002) (0)
- Knock in mouse models to understand ALS pathomechanisms (2018) (0)
- Author and Subject Index (1998) (0)
- Faculty Opinions recommendation of TDP-43 and RNA form amyloid-like myo-granules in regenerating muscle. (2018) (0)
- Species-Specific Transcription in Mice Carrying (2008) (0)
- Mary Frances Lyon (1925–2014) (2015) (0)
- Faculty Opinions recommendation of Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. (2012) (0)
- Gene expression in response to retinoic acid in novel human chromosome 21 monochromosomal cell hybrids (1995) (0)
- FUSDelta14 mutation impairs normal brain development and causes systemic metabolic alterations (2023) (0)
- A 342kb ready-to-sequence PAC and cosmid contig with full EcoRI/SMAI restriction map between markers ACTL5 and D21S268 within the Down syndrome region-2. (1998) (0)
- Normal subcellular distribution of dynein-dynactin complex subunits and disturbances in neurodegenerative disease (2006) (0)
- Genome-wide changes in TDP43-dependent splicing caused by endogenous mutations are insufficient to cause neuronal degeneration in the laboratory mouse (2015) (0)
- Contents Vol. 17, 2004 (2004) (0)
- Faculty Opinions recommendation of Structural and thermodynamic effects of post-translational modifications in mutant and wild type Cu, Zn superoxide dismutase. (2011) (0)
- Faculty of 1000 evaluation for RNA metabolism in neurodegenerative disease. (2017) (0)
- Mouse models of aneuploidy to understand chromosome disorders (2021) (0)
- Faculty Opinions recommendation of Apoe4 accelerates early seeding of amyloid pathology. (2017) (0)
- HYPOPERFUSION IN THE ABSENCE OF APP GENE TRIPLICATION IN THE TC1 MOUSE MODEL OF DOWN’S SYNDROME (2014) (0)
- DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base. (2020) (0)
- Faculty Opinions recommendation of Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (2011) (0)
- Mechanisms regulating the initiation of neural tube closure (2004) (0)
- Species-specific developmental timing is associated with differences in protein stability in mouse and human (2020) (0)
- Construction ofa detailed molecular map ofthemouse X chromosome bymicroclonmg andinterspecific crosses (1987) (0)
- A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration (2013) (0)
- P16 Investigating novel mutant mouse models of motor neuron disease (2011) (0)
- Faculty Opinions recommendation of Presenilin-dependent receptor processing is required for axon guidance. (2011) (0)
- Sponsored by: The Genetics Society and Mammalian Genome Modelling oral-facial-digital syndrome type 1, a human ciliary disorder, in zebrafish (2007) (0)
- Faculty Opinions recommendation of Experimental transmissibility of mutant SOD1 motor neuron disease. (2014) (0)
- Identification of a model of alcohol preference and its similarity to human alcoholism (2008) (0)
- Microcloning and molecular mapping of the mouse X chromosome (1987) (0)
- P23 Investigating new mutant models of MND (2012) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- GLYMPHATIC FUNCTION DURING EARLY STAGE AMYLOID PATHOLOGY: DYNAMIC CONTRAST-ENHANCED MRI IN THE J20 MOUSE MODEL OF ALZHEIMER’S DISEASE (2018) (0)
- IC-P-034 Brain cortical thickness in an FTD3 patient and mutation carriers (2006) (0)
- DYNAMIC CONTRAST-ENHANCED MRI TO ASSESS GLYMPHATIC FUNCTION IN THE NL-F MOUSE MODEL OF ALZHEIMER’S DISEASE (2019) (0)
- Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome (2018) (0)
- GENETIC DISSECTION OF SEVERITY AND ONSET MODULATORS FOR ALZHEIMER’S PATHOLOGY IN DOWN SYNDROME USING CELLULAR SYSTEMS (2017) (0)
- Preclinical modelling in the mouse of altered neuroinflammation in Alzheimer’s disease – Down syndrome (2021) (0)
- GLYMPHATIC FUNCTION DURING EARLY STAGE AMYLOID PATHOLOGY: DYNAMIC CONTRAST-ENHANCED MRI IN THE J20 MOUSE MODEL OF ALZHEIMER’S DISEASE (2018) (0)
- DISSOCIATING ABERRANT MEMORY PROCESSES IN MOUSE MODELS OF ALZHEIMER'S DISEASE AND DOWN SYNDROME (2016) (0)
- Using primary neurons from transgenic mice to identify genes on human chromosome 21 influencing Alzheimer's neuropathology (2013) (0)
- Preclinical modelling in the mouse of altered neuroinflammation in Alzheimer’s disease – Down syndrome (2021) (0)
- Interferon hypersensitivity in the brain of a Down syndrome preclinical model (2022) (0)
- Assessing neuroinflammation and inflammasome activity in mouse models of Down syndrome (2021) (0)
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