Lista de obras - Kazuhiro Yamakawa - Dominio Público Uruguay

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

artículo científico publicado en 2006

A Novel Gene in the Chromosomal Region for Juvenile Myoclonic Epilepsy on 6p12 Encodes a Brain-Specific Lysosomal Membrane Protein ⬇️

artículo científico publicado el 2 de noviembre de 2001

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

artículo científico publicado en 2005

A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

artículo científico publicado en 1991

A high-resolution cytogenetic map of human chromosome 3: localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization

scientific article published on 01 August 1992

A homozygous mutation of voltage‐gated sodium channel βI gene SCN1B in a patient with Dravet syndrome ⬇️

artículo científico publicado el 13 de noviembre de 2012

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

artículo científico publicado en 2005

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

artículo científico publicado en 2001

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

artículo científico publicado en 2004

A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3

artículo científico publicado en 1996

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

artículo científico publicado en 2020

Acute Encephalopathy in a Patient with Dravet Syndrome ⬇️

artículo científico publicado el 6 de junio de 2011

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

artículo científico publicado en 2010

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

artículo científico publicado en 2018

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

artículo científico publicado en 2013

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

artículo científico publicado en 2018

Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder

scientific article published on 01 February 2008

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

artículo científico publicado en 2002

Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction

artículo científico publicado en 2017

Cell-type specific roles for PTEN in establishing a functional retinal architecture

artículo científico publicado en 2012

Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31

artículo científico publicado en 1996

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.

artículo científico publicado en 1994

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

artículo científico publicado en 2000

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I

artículo científico publicado el 1 de agosto de 1992

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

artículo científico publicado en 2001

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

artículo científico publicado en 2018

Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome

artículo científico publicado en 2014

Consensus on diagnosis and management of JME: From founder's observations to current trends.

artículo científico publicado en 2013

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

artículo científico publicado en 2009

DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death

artículo científico publicado en 2009

DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain

artículo científico publicado en 2001

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

artículo científico publicado en 1998

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

artículo científico publicado en 2017

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

artículo científico publicado en 2010

Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung

scientific article published on 01 March 1994

Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B

scientific article published on 01 October 1992

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

artículo científico publicado en 2004

Dscam is associated with axonal and dendritic features of neuronal cells.

artículo científico publicado en 2001

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

artículo científico publicado en 2011

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

artículo científico publicado en 2016

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

artículo científico publicado en 2014

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

scientific article published on 11 May 2012

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

artículo científico publicado en 2009

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

artículo científico publicado en 2014

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.

artículo científico publicado en 2016

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

artículo científico publicado en 1999

Familial neuromyelitis optica (Devic's syndrome) with late onset in Japan

artículo científico publicado en 2000

Genetic abnormalities underlying familial epilepsy syndromes.

artículo científico publicado en 2002

Genetics of epilepsy: current status and perspectives.

artículo científico publicado en 2002

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

artículo científico publicado en 2009

Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report

scientific article published on 01 February 2009

Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice

artículo científico publicado en 2020

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

artículo científico publicado en 2018

Improved detection of rotavirus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA

scientific article published on 01 October 1990

In response to terminology and prognosis of Dravet syndrome

scientific article published on 01 June 2014

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

artículo científico publicado en 1995

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

artículo científico publicado en 1998

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

artículo científico publicado en 2002

Long-term course of Dravet syndrome: a study from an epilepsy center in Japan

scientific article published on 06 February 2014

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

artículo científico publicado en 2006

Molecular and cellular basis: Insights from experimental models of Dravet syndrome ⬇️

artículo científico publicado el 1 de abril de 2011

Molecular basis of severe myoclonic epilepsy in infancy.

artículo científico publicado en 2009

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

artículo científico publicado en 1999

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

artículo científico publicado en 2008

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment ⬇️

artículo científico publicado el 16 de agosto de 2012

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

artículo científico publicado en 2006

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene ⬇️

artículo científico publicado el 1 de octubre de 2001

Mutations in EFHC1 cause juvenile myoclonic epilepsy

artículo científico publicado en 2004

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

artículo científico publicado en 2005

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

artículo científico publicado en 2003

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

artículo científico publicado en 2013

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

scientific journal article

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

artículo científico publicado en 2001

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

artículo científico publicado en 2017

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

artículo científico publicado en 2015

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

artículo científico publicado en 2006

Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

artículo científico publicado en 2002

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.

artículo científico publicado en 2012

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

scientific article published on 15 May 2007

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

artículo científico publicado en 2017

Precise ordering of 26 cosmid markers on chromosome region 3p23-->p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs

scientific article published on 01 January 1995

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

artículo científico publicado en 2012

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis.

artículo científico publicado en 2001

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

artículo científico publicado en 2020

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

artículo científico publicado en 2013

Recent developments in the quest for myoclonic epilepsy genes.

artículo científico publicado en 2003

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

artículo científico publicado en 2006

Seizure phenotypes of a family with missense mutations in SCN2A

artículo científico publicado en 2004

Semiautomated DNA probe mapping using digital imaging microscopy: II. System performance.

artículo científico publicado en 1995

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

artículo científico publicado en 2007

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum.

artículo científico publicado en 2014

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

artículo científico publicado en 2005

Stimulus-induced behavior in F1 hybrids of seizure-sensitive and seizure-resistant gerbils.

artículo científico publicado en 2003

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

artículo científico publicado en 2003

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

artículo científico publicado en 2002

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

artículo científico publicado en 2004

The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex.

artículo científico publicado en 2016

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

artículo científico publicado en 2012

Towards the understanding of Down syndrome using mouse models ⬇️

artículo científico publicado el 1 de junio de 2012

Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.

artículo científico publicado en 2005

Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism.

artículo científico publicado en 2017

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

artículo científico publicado en 2018

Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome

artículo científico publicado en 2004

Lista de obras de Kazuhiro Yamakawa

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

A Novel Gene in the Chromosomal Region for Juvenile Myoclonic Epilepsy on 6p12 Encodes a Brain-Specific Lysosomal Membrane Protein ⬇️

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

A high-resolution cytogenetic map of human chromosome 3: localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization

A homozygous mutation of voltage‐gated sodium channel βI gene SCN1B in a patient with Dravet syndrome ⬇️

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

Acute Encephalopathy in a Patient with Dravet Syndrome ⬇️

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction

Cell-type specific roles for PTEN in establishing a functional retinal architecture

Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome

Consensus on diagnosis and management of JME: From founder's observations to current trends.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death

DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung

Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

Dscam is associated with axonal and dendritic features of neuronal cells.

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

Familial neuromyelitis optica (Devic's syndrome) with late onset in Japan

Genetic abnormalities underlying familial epilepsy syndromes.

Genetics of epilepsy: current status and perspectives.

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report

Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

Improved detection of rotavirus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA

In response to terminology and prognosis of Dravet syndrome

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

Long-term course of Dravet syndrome: a study from an epilepsy center in Japan

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

Molecular and cellular basis: Insights from experimental models of Dravet syndrome ⬇️

Molecular basis of severe myoclonic epilepsy in infancy.

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment ⬇️

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene ⬇️

Mutations in EFHC1 cause juvenile myoclonic epilepsy

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation