PubRank

Elizabeth M C Fisher

Author PubWeight™ 110.07‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009 5.01
2 Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003 4.40
3 Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol 2007 4.30
4 Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005 4.21
5 Species-specific transcription in mice carrying human chromosome 21. Science 2008 4.03
6 An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 2005 3.61
7 Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science 2003 3.59
8 Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet 2006 2.35
9 FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol 2010 2.30
10 The origins and uses of mouse outbred stocks. Nat Genet 2005 2.19
11 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 2007 2.09
12 C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2012 2.09
13 A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J Cell Biol 2005 2.01
14 Down syndrome--recent progress and future prospects. Hum Mol Genet 2009 1.85
15 Cytoplasmic dynein nomenclature. J Cell Biol 2005 1.71
16 Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature 2010 1.70
17 A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A 2009 1.66
18 DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet 2008 1.45
19 TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander. Mamm Genome 2008 1.44
20 Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 2013 1.41
21 Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet 2010 1.35
22 Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics 2002 1.31
23 Down syndrome: searching for the genetic culprits. Dis Model Mech 2011 1.28
24 Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis. PLoS One 2010 1.25
25 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. Dis Model Mech 2009 1.22
26 Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learn Mem 2008 1.18
27 Genomically humanized mice: technologies and promises. Nat Rev Genet 2011 1.18
28 SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome 2011 1.17
29 Rodent models of amyotrophic lateral sclerosis. Biochim Biophys Acta 2013 1.17
30 Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse. Cardiovasc Res 2010 1.13
31 Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome. PLoS One 2013 1.10
32 Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Hum Mol Genet 2009 1.09
33 Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci 2013 1.09
34 Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood 2010 1.08
35 Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain 2013 1.05
36 A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis. Dis Model Mech 2011 1.05
37 Quiet mutations in inbred strains of mice. Trends Mol Med 2007 1.05
38 Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS). PLoS One 2010 1.05
39 Microcell-mediated chromosome transfer (MMCT): small cells with huge potential. Mamm Genome 2003 1.03
40 Mouse models for neurological disease. Lancet Neurol 2002 1.02
41 Cytoplasmic dynein could be key to understanding neurodegeneration. Genome Biol 2008 1.02
42 Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain 2007 0.98
43 Mouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcripts. PLoS One 2010 0.98
44 The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12. Amyotroph Lateral Scler Other Motor Neuron Disord 2005 0.95
45 Structural correlates of active-staining following magnetic resonance microscopy in the mouse brain. Neuroimage 2011 0.94
46 Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain 2012 0.94
47 Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition. Nat Commun 2013 0.94
48 The phagocytic capacity of neurones. Eur J Neurosci 2007 0.93
49 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. Amyotroph Lateral Scler Other Motor Neuron Disord 2003 0.93
50 Identification and characterization of a novel mouse prion gene allele. Mamm Genome 2004 0.92
51 Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. J Bone Miner Res 2007 0.91
52 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. Behav Brain Res 2010 0.91
53 A motor-driven mechanism for cell-length sensing. Cell Rep 2012 0.90
54 Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse. J Neurosci 2011 0.88
55 Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions. J Biol Chem 2010 0.87
56 ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. PLoS One 2010 0.87
57 The legs at odd angles (Loa) mutation in cytoplasmic dynein ameliorates mitochondrial function in SOD1G93A mouse model for motor neuron disease. J Biol Chem 2010 0.86
58 New techniques to understand chromosome dosage: mouse models of aneuploidy. Hum Mol Genet 2006 0.86
59 Altered regulation of tau phosphorylation in a mouse model of down syndrome aging. Neurobiol Aging 2011 0.85
60 Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. Biochim Biophys Acta 2002 0.85
61 Mouse models as a tool for understanding neurodegenerative diseases. Curr Opin Neurol 2003 0.84
62 Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2013 0.83
63 Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain. Hum Mol Genet 2013 0.82
64 Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice. Proc Natl Acad Sci U S A 2012 0.82
65 Alterations to dendritic spine morphology, but not dendrite patterning, of cortical projection neurons in Tc1 and Ts1Rhr mouse models of Down syndrome. PLoS One 2013 0.82
66 Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome. Mol Cell Proteomics 2008 0.82
67 Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice. PLoS One 2009 0.82
68 No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. Amyotroph Lateral Scler 2006 0.81
69 Prion disease incubation time is not affected in mice heterozygous for a dynein mutation. Biochem Biophys Res Commun 2005 0.81
70 A novel phenotype for the dynein heavy chain mutation Loa: altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons. J Comp Neurol 2012 0.80
71 Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiol Aging 2013 0.79
72 Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica 2004 0.79
73 FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiol Aging 2012 0.78
74 Paradigms for the identification of new genes in motor neuron degeneration. Amyotroph Lateral Scler Other Motor Neuron Disord 2003 0.78
75 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. Gene 2002 0.77
76 How does the genetic assassin select its neuronal target? Mamm Genome 2011 0.77
77 Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2012 0.76
78 Mouse models of aneuploidy. ScientificWorldJournal 2012 0.76
79 Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21. J Biomed Res 2010 0.76
80 Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord 2010 0.76
81 Three novel pigmentation mutants generated by genome-wide random ENU mutagenesis in the mouse. Comp Funct Genomics 2004 0.75
82 Generation of a panel of antibodies against proteins encoded on human chromosome 21. J Negat Results Biomed 2010 0.75
83 A new mouse mutant, skijumper. Mamm Genome 2002 0.75
84 An unusual presentation for SOD1-ALS: isolated facial diplegia. Muscle Nerve 2013 0.75
85 Mary Frances Lyon (1925–2014). Cell 2015 0.75