Lista de obras - Toshitaka Kawarai - Dominio Público Uruguay

A case of brainstem encephalitis following multiple cranial neuropathy in a hepatocellular carcinoma patient--association with cytomegalovirus and varicella-zoster virus infection

artículo científico publicado en 2007

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

artículo científico publicado en 2001

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

artículo científico publicado en 2015

A large Calabrian kindred segregating frontotemporal dementia.

artículo científico publicado en 2002

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

artículo científico publicado en 2013

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

artículo científico publicado en 2004

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

scientific article published on 20 November 2019

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

artículo científico publicado en 2017

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

article

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes

artículo científico publicado en 2003

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

artículo científico publicado en 1998

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

artículo científico publicado en 2003

Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice

artículo científico

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease

artículo científico publicado en 2007

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

artículo científico publicado en 1999

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

artículo científico publicado en 2004

Analysis of the glucocerebrosidase gene in Parkinson's disease

article

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism

artículo científico publicado en 2013

Arterial stiffness and progressive neurological deficit in patients with acute deep subcortical infarction

artículo científico publicado en 2012

Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

artículo científico publicado en 2002

Association studies between the plasmin genes and late-onset Alzheimer's disease

artículo científico publicado en 2007

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

artículo científico publicado en 2006

Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease

artículo científico publicado en 2002

Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy.

artículo científico publicado en 2015

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

article

Benign hereditary chorea: clinical, genetic, and pathological findings

artículo científico publicado en 2003

Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes

artículo científico publicado en 2004

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

artículo científico publicado en 2003

Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion

artículo científico publicado en 2012

CROCUS SATIVUS STIGMA EXTRACT IMPROVES AMYLOID-B DEGRADATION IN MONOCYTES FROM ALZHEIMER'S DISEASE PATIENTS

scholarly article by Antonio Orlacchio et al published July 2014 in Alzheimer's and Dementia

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.

artículo científico publicado en 2000

Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins

artículo científico publicado en 2006

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

article

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16

article published in 2016

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

artículo científico publicado en 2006

Clinical and genetic study of a large SPG4 Italian family

artículo científico publicado en 2005

Clinical features of a first-ever lacunar infarction in Japanese patients: poor outcome in females

artículo científico publicado en 2010

Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)

artículo científico publicado en 2017

Comparison of arteriosclerotic indicators in patients with ischemic stroke: ankle-brachial index, brachial-ankle pulse wave velocity and cardio-ankle vascular index

artículo científico publicado en 2015

Conversion to dementia among two groups with cognitive impairment. A preliminary report.

artículo científico publicado en 2004

Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation

artículo científico publicado en 2006

Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes

artículo científico publicado en 2006

Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia

artículo científico publicado en 2014

Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism

artículo científico publicado en 2013

Depression in X-linked dystonia-parkinsonism: a case-control study

artículo científico publicado en 2013

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

artículo científico publicado en 2017

Does CSF hypocretin-1 decrease in Bickerstaff's brainstem encephalitis?

artículo científico publicado en 2007

Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease

artículo científico publicado en 2020

Elderly case of prolonged hypoglycemic coma presenting with reversible magnetic resonance imaging changes

artículo científico publicado en 2010

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

artículo científico publicado en 1998

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion

artículo científico publicado en 2016

Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline.

artículo científico publicado en 2005

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

artículo científico publicado en 2004

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation

artículo científico publicado en 2000

Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

scholarly article by Carol F. Lippa et al published December 2000 in Annals of Neurology

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

artículo científico publicado en 2004

Genetic complexity of Alzheimer's disease: successes and challenges.

artículo científico publicado en 2006

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

artículo científico publicado en 2007

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

artículo científico publicado en 2014

Hereditary spastic paraplegia: clinical genetic study of 15 families

artículo científico publicado en 2004

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

artículo científico publicado en 2014

Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy

artículo científico publicado en 2016

Increased brachial-ankle pulse wave velocity is independently associated with white matter hyperintensities

artículo científico publicado en 2011

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids

artículo científico publicado en 2013

Isolated trochlear nerve palsy due to a contusion at the trochlear nerve exit zone

artículo científico publicado en 2009

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

article

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

artículo científico publicado en 2004

Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene

article

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation

scientific article published on 31 July 2019

MFN2transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation

artículo científico publicado en 2016

Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.

artículo científico publicado en 2000

Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes

artículo científico publicado en 2000

Mutations in GNAL: a novel cause of craniocervical dystonia

artículo científico publicado en 2014

Neuroacanthocytosis associated with a defect of the 4.1R membrane protein

artículo científico publicado en 2007

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

artículo científico publicado en 2005

Nicastrin binds to membrane-tethered Notch

artículo científico publicado en 2001

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

artículo científico publicado en 2004

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Oromandibular dystonia associated with SCA36.

artículo científico publicado en 2013

P4-115 Molecular analysis of the nicastrin promoter SNPS in Alzheimer's disease

scholarly article by Antonio Orlacchio et al published July 2004 in Neurobiology of Aging

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability

artículo científico publicado en 2019

PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier

artículo científico publicado en 2003

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

artículo científico publicado en 2018

Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex

artículo científico publicado en 1999

Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP

scientific journal article

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of <i>ATP1A3</i> in Patients Across 3 Global Populations

scientific article published in 2021

Re-evaluation of clinical features and risk factors of acute ischemic stroke in Japanese longevity society

artículo científico publicado el 18 de mayo de 2010

Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism

scientific article published on 07 October 2020

Response to Correspondence: Pardossi-Piquard et al., “Presenilin-Dependent Transcriptional Control of the Aβ-Degrading Enzyme Neprilysin by Intracellular Domains of βAPP and APLP.” Neuron 46, 541–554

article

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

artículo científico publicado en 2010

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

artículo científico publicado en 2017

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

artículo científico publicado en 2017

Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2.

artículo científico publicado en 2007

TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

artículo científico publicado en 2006

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

artículo científico publicado en 2012

The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus.

artículo científico publicado en 2008

The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53.

artículo científico publicado en 2007

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

artículo científico publicado en 2007

The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities

artículo científico publicado en 2004

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients

artículo científico publicado en 2016

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

artículo científico publicado en 2005

[Adult case of acute encephalopathy associated with bilateral thalamic lesions and peripheral neuropathy].

artículo científico publicado en 2006

miR128 up-regulation correlates with impaired amyloid β(1-42) degradation in monocytes from patients with sporadic Alzheimer's disease

artículo científico publicado en 2013

p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity

artículo científico publicado en 2007

Lista de obras de Toshitaka Kawarai

A case of brainstem encephalitis following multiple cranial neuropathy in a hepatocellular carcinoma patient--association with cytomegalovirus and varicella-zoster virus infection

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

A large Calabrian kindred segregating frontotemporal dementia.

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Analysis of the glucocerebrosidase gene in Parkinson's disease

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism

Arterial stiffness and progressive neurological deficit in patients with acute deep subcortical infarction

Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

Association studies between the plasmin genes and late-onset Alzheimer's disease

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease

Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

Benign hereditary chorea: clinical, genetic, and pathological findings

Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion

CROCUS SATIVUS STIGMA EXTRACT IMPROVES AMYLOID-B DEGRADATION IN MONOCYTES FROM ALZHEIMER'S DISEASE PATIENTS

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.

Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

Clinical and genetic study of a large SPG4 Italian family

Clinical features of a first-ever lacunar infarction in Japanese patients: poor outcome in females

Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)

Comparison of arteriosclerotic indicators in patients with ischemic stroke: ankle-brachial index, brachial-ankle pulse wave velocity and cardio-ankle vascular index

Conversion to dementia among two groups with cognitive impairment. A preliminary report.

Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation

Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes

Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia

Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism

Depression in X-linked dystonia-parkinsonism: a case-control study

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

Does CSF hypocretin-1 decrease in Bickerstaff's brainstem encephalitis?

Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease

Elderly case of prolonged hypoglycemic coma presenting with reversible magnetic resonance imaging changes

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion

Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline.

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation

Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

Genetic Variability in CHMP2B and Frontotemporal Dementia

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

Genetic complexity of Alzheimer's disease: successes and challenges.

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

Hereditary spastic paraplegia: clinical genetic study of 15 families

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy

Increased brachial-ankle pulse wave velocity is independently associated with white matter hyperintensities

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids

Isolated trochlear nerve palsy due to a contusion at the trochlear nerve exit zone

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation

MFN2transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation

Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.