| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NRG1045 |
| P698 | PubMed publication ID | 12671660 |
| P50 | author | Huda Zoghbi | Q1633764 |
| P2093 | author name string | Kei Watase | |
| P2860 | cites work | Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy | Q22009167 |
| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24290583 | ||
| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 | ||
| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
| A potassium channel mutation in neonatal human epilepsy | Q24320244 | ||
| A novel nuclear structure containing the survival of motor neurons protein | Q24324247 | ||
| Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease | Q24337312 | ||
| Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia | Q24540213 | ||
| Misfolded proteinase K-resistant hyperphosphorylated alpha-synuclein in aged transgenic mice with locomotor deterioration and in human alpha-synucleinopathies | Q24554351 | ||
| Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits | Q24657867 | ||
| Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease | Q28114818 | ||
| A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 | ||
| The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy | Q28142926 | ||
| A decade of molecular studies of fragile X syndrome | Q28203140 | ||
| Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome | Q28215540 | ||
| Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation | Q28246858 | ||
| Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes | Q28249379 | ||
| Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia | Q28250989 | ||
| Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors | Q28254128 | ||
| Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats | Q28261729 | ||
| Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 | Q28274687 | ||
| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion | Q28275699 | ||
| Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo | Q28279878 | ||
| Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy | Q28292575 | ||
| Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors | Q28367959 | ||
| A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome | Q28504458 | ||
| Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits | Q28505173 | ||
| Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases | Q28506454 | ||
| Neurological abnormalities in a knock-in mouse model of Huntington's disease | Q28508179 | ||
| Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation | Q28510128 | ||
| Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice | Q28511355 | ||
| Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation | Q28511494 | ||
| HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells | Q28511588 | ||
| Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury | Q28511628 | ||
| alpha-Galactosidase A deficient mice: a model of Fabry disease | Q28513530 | ||
| A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice | Q28584741 | ||
| Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice | Q28586975 | ||
| Abnormal development of dendritic spines in FMR1 knock-out mice | Q28589950 | ||
| Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit | Q28592875 | ||
| Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality | Q28592982 | ||
| Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism | Q28593406 | ||
| Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation | Q29547561 | ||
| Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders | Q29614754 | ||
| Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice | Q29615357 | ||
| Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice | Q29616328 | ||
| Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3 | Q29616516 | ||
| Application of magnetic resonance to animal models of cerebral ischemia. | Q30667083 | ||
| Beta-amyloid precursor protein transgenic mice that harbor diffuse A beta deposits but do not form plaques show increased ischemic vulnerability: role of inflammation | Q30803369 | ||
| Nicotinic receptor function: new perspectives from knockout mice | Q31390360 | ||
| Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti | Q40866170 | ||
| Angelman syndrome | Q40923007 | ||
| A Proposed Test Battery and Constellations of Specific Behavioral Paradigms to Investigate the Behavioral Phenotypes of Transgenic and Knockout Mice | Q41523132 | ||
| Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease) | Q42276858 | ||
| Creatine increase survival and delays motor symptoms in a transgenic animal model of Huntington's disease | Q43669934 | ||
| Dichloroacetate exerts therapeutic effects in transgenic mouse models of Huntington's disease | Q43676817 | ||
| Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy | Q43791406 | ||
| Compromised hemodynamic response in amyloid precursor protein transgenic mice. | Q44102454 | ||
| Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy | Q44173664 | ||
| Therapeutic effects of cystamine in a murine model of Huntington's disease. | Q44185981 | ||
| Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice | Q44260175 | ||
| Molecular targeting of Alzheimer's amyloid plaques for contrast-enhanced magnetic resonance imaging | Q44264902 | ||
| SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. | Q44307899 | ||
| Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease. | Q45300532 | ||
| A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease | Q45303631 | ||
| Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. | Q45305438 | ||
| (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features | Q45866804 | ||
| ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. | Q46135324 | ||
| Long-term consequences of developmental exposure to aluminum in a suboptimal diet for growth and behavior of Swiss Webster mice | Q46203711 | ||
| Axonal swellings and degeneration in mice lacking the major proteolipid of myelin | Q48004959 | ||
| Imprinting in Prader-Willi and Angelman syndromes | Q48013064 | ||
| Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. | Q48354837 | ||
| Contextual learning and cue association in fear conditioning in mice: a strain comparison and a lesion study | Q48355856 | ||
| Genetic classification of primary neurodegenerative disease | Q48357384 | ||
| Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice | Q48373570 | ||
| Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice | Q48478270 | ||
| A mouse model of spinal and bulbar muscular atrophy | Q48504987 | ||
| Adult fragile X syndrome. Clinico-neuropathologic findings | Q48545759 | ||
| A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. | Q48567301 | ||
| Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein | Q48581887 | ||
| Analysis of neocortex in three males with the fragile X syndrome | Q48619801 | ||
| Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. | Q48628376 | ||
| Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice | Q48661423 | ||
| Imaging of amyloid-beta deposits in brains of living mice permits direct observation of clearance of plaques with immunotherapy | Q48963826 | ||
| Imaging physiologic dysfunction of individual hippocampal subregions in humans and genetically modified mice | Q49063363 | ||
| Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice | Q49093144 | ||
| Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. | Q50890012 | ||
| Behavioral and neuroanatomical characterization of FVB/N inbred mice. | Q51055811 | ||
| Characterization of benzodiazepine-sensitive behaviors in the A/J and C57BL/6J inbred strains of mice. | Q51640034 | ||
| Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. | Q52219104 | ||
| Identification of genes that modify ataxin-1-induced neurodegeneration. | Q52584075 | ||
| Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice. | Q53219233 | ||
| Histological and histochemical changes in skeletal muscle from cases of chronic juvenile and early adult spinal muscular atrophy (the Kugelberg-Welander syndrome). | Q53848514 | ||
| An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria | Q54965159 | ||
| Epidermal immunization by a needle-free powder delivery technology: Immunogenicity of influenza vaccine and protection in mice | Q56772848 | ||
| Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus | Q56909117 | ||
| SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat | Q56909286 | ||
| Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene | Q57043289 | ||
| Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders | Q57640164 | ||
| Frataxin knockin mouse | Q57950173 | ||
| Fmr1 knockout mice: A model to study fragile X mental retardation | Q60308064 | ||
| Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice | Q67653573 | ||
| Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy | Q70505677 | ||
| Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features | Q70901775 | ||
| Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice | Q72161217 | ||
| Assembly of CNS myelin in the absence of proteolipid protein | Q73016640 | ||
| Genetic mapping of a mouse modifier gene that can prevent ALS onset | Q73286867 | ||
| An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN | Q73295491 | ||
| Targeting alzheimer amyloid plaques in vivo | Q74133462 | ||
| Neuropathology in mice expressing human alpha-synuclein | Q74139704 | ||
| Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice | Q32159154 | ||
| Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy | Q33588368 | ||
| Incontinentia pigmenti (Bloch-Sulzberger syndrome). | Q33594861 | ||
| Voltage-dependent calcium channel mutations in neurological disease. | Q33691500 | ||
| List of transgenic and knockout mice: behavioral profiles | Q33885242 | ||
| Towards new models of disease and physiology in the neurosciences: the role of induced and naturally occurring mutations | Q33892625 | ||
| Treatment of spinal muscular atrophy by sodium butyrate | Q33933841 | ||
| Prions, peptides and protein misfolding | Q33946214 | ||
| Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress | Q33953020 | ||
| Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel | Q34091858 | ||
| Toxic proteins in neurodegenerative disease | Q34133493 | ||
| Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots | Q34146268 | ||
| Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues | Q34159764 | ||
| Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease | Q34185510 | ||
| Monogenic causes of X-linked mental retardation. | Q34354315 | ||
| Conditional control of gene expression in the mouse | Q34389488 | ||
| Recombineering: a powerful new tool for mouse functional genomics | Q34389493 | ||
| Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype? | Q34390023 | ||
| SCA1 molecular genetics: a history of a 13 year collaboration against glutamines | Q34416745 | ||
| BAC to the future: the use of bac transgenic mice for neuroscience research | Q34457226 | ||
| Gene therapy for Fabry disease | Q34471635 | ||
| Recent advances in the genetics and pathogenesis of Parkinson disease | Q34502910 | ||
| The molecular bases of spinal muscular atrophy | Q34699419 | ||
| Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis | Q34718757 | ||
| Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones? | Q34747079 | ||
| Tools for targeted manipulation of the mouse genome | Q35016230 | ||
| In vivo detection of amyloid plaques in a mouse model of Alzheimer's disease | Q35164211 | ||
| Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse | Q35776239 | ||
| Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy | Q36379979 | ||
| FVB/N: an inbred mouse strain preferable for transgenic analyses | Q37425359 | ||
| Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy | Q38313528 | ||
| A mouse model for spinal muscular atrophy | Q38316939 | ||
| Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. | Q38331491 | ||
| P433 | issue | 4 | |
| P921 | main subject | encephalopathy | Q576349 |
| P304 | page(s) | 296-307 | |
| P577 | publication date | 2003-04-01 | |
| P1433 | published in | Nature Reviews Genetics | Q1071824 |
| P1476 | title | Modelling brain diseases in mice: the challenges of design and analysis | |
| P478 | volume | 4 |
| Q51877526 | A glimmer of light for neuropsychiatric disorders. |
| Q48454166 | A new animal model of infantile spasms with unprovoked persistent seizures |
| Q34407813 | ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice. |
| Q27330107 | Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments |
| Q35635490 | Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8 |
| Q30855390 | Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety |
| Q34576688 | Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. |
| Q33288955 | Aneuploidy and confined chromosomal mosaicism in the developing human brain. |
| Q59793802 | Benchmarking in vitro tissue-engineered blood-brain barrier models |
| Q36477098 | Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses |
| Q35918570 | Comparative primate genomics |
| Q22241147 | Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease |
| Q40422136 | Embryonic stem cell models of CAG repeat disease |
| Q44982210 | Enzyme blockade: a nonradioactive method to determine the absolute rate of cholesterol synthesis in the brain |
| Q30441256 | Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy |
| Q28505458 | Expanded characterization of the social interaction abnormalities in mice lacking Dvl1 |
| Q35599386 | Experimental gene interaction studies with SERT mutant mice as models for human polygenic and epistatic traits and disorders. |
| Q37072467 | Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice |
| Q46598596 | Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction |
| Q58552757 | Human iPSC-derived blood-brain barrier microvessels: validation of barrier function and endothelial cell behavior |
| Q50732745 | Integration-free induced pluripotent stem cells model genetic and neural developmental features of down syndrome etiology. |
| Q28469220 | Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model |
| Q36503823 | Merging fields: stem cells in neurogenesis, transplantation, and disease modeling |
| Q34699041 | Mouse behavioral assays relevant to the symptoms of autism |
| Q24801096 | MuTrack: a genome analysis system for large-scale mutagenesis in the mouse |
| Q38521953 | Neural system-enriched gene expression: relationship to biological pathways and neurological diseases. |
| Q81541381 | Progress in human genetics |
| Q35758811 | Progress in the use of microarray technology to study the neurobiology of disease |
| Q56908938 | SILencing misbehaving proteins |
| Q42620608 | Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice |
| Q115658149 | Sex differences in the human brain: a roadmap for more careful analysis and interpretation of a biological reality |
| Q48425938 | Stage-specific conditional mutagenesis in mouse embryonic stem cell-derived neural cells and postmitotic neurons by direct delivery of biologically active Cre recombinase |
| Q36577260 | Technology Insight: querying the genome with microarrays--progress and hope for neurological disease |
| Q36837326 | The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse |
| Q52001598 | The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. |
| Q37685363 | The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D. |
| Q37509279 | Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats |
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| Q52592966 | Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans. |
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