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Lista de obras de Osamu Onodera

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review

artículo científico publicado en 2017

A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report

artículo científico publicado en 1998

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

artículo científico publicado en 2014

A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene

artículo científico publicado en 2005

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

scientific article published on 23 September 2020

A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease

artículo científico publicado en 2005

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease

artículo científico publicado en 2014

A novel mutation in the HTRA1 gene causes CARASIL without alopecia

artículo científico publicado en 2011

A novel therapeutic approach using peripheral blood mononuclear cells preconditioned by oxygen-glucose deprivation

scientific article published on 14 November 2019

A patient with anti-aquaporin 4 antibody who presented with recurrent hypersomnia, reduced orexin (hypocretin) level, and symmetrical hypothalamic lesions

artículo científico publicado en 2008

Aberration of the spliceosome in amyotrophic lateral sclerosis

scientific article published on 01 January 2014

Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation

artículo científico publicado en 1993

Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.

artículo científico publicado en 2004

Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy

scholarly article by Koji Kato published in March 2019

Alzheimer's disease: report of two autopsy cases with a clinical diagnosis of corticobasal degeneration.

artículo científico publicado en 2009

Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation

artículo científico publicado en 2001

Amyotrophic Lateral Sclerosis with Pallidonigroluysian Degeneration: A Clinicopathological Study

artículo científico publicado en 2019

Angiogenesis in the ischemic core: A potential treatment target?

artículo científico publicado en 2019

Apolipoprotein E epsilon4 allele and progression of cortical Lewy body pathology in Parkinson's disease

artículo científico publicado en 1998

Apparent diffusion coefficient reduction might be a predictor of poor outcome in patients with posterior reversible encephalopathy syndrome.

artículo científico publicado en 2017

Aprataxin, a novel protein that protects against genotoxic stress

artículo científico publicado en 2004

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

artículo científico publicado en 2007

Association between dialysis treatment and cognitive decline: A study from the Project in Sado for Total Health (PROST), Japan.

artículo científico publicado en 2016

Association between serum IgG antibody titers against <i>Porphyromonas gingivalis</i> and liver enzyme levels: A cross-sectional study in Sado Island

scientific article published on 18 November 2020

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

artículo científico publicado en 2009

Atrial standstill after treadmill exercise test and unique response to isoproterenol infusion in recurrent postexercise syncope

artículo científico publicado en 1990

Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings

artículo científico publicado en 1997

Beta-synuclein gene alterations in dementia with Lewy bodies

artículo científico publicado en 2004

Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases

artículo científico publicado en 2007

Bunina bodies in motor and non-motor neurons revisited: a pathological study of an ALS patient after long-term survival on a respirator

artículo científico publicado en 2014

C9ORF72 repeat-associated non-ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9ALS.

artículo científico publicado en 2014

CARASIL families from India with 3 novel null mutations in the HTRA1 gene

artículo científico publicado en 2017

Cardiac sympathetic denervation in Parkinson's disease linked to SNCA duplication

artículo científico publicado en 2008

Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease

artículo científico publicado en 2018

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1 ⬇️

artículo científico publicado el 14 de febrero de 2011

Changes in anti-HuD antibody titers in the long-term course in paraneoplastic sensory neuropathy

artículo científico publicado en 1997

Characteristic features and progression of abnormalities on MRI for CARASIL.

artículo científico publicado en 2015

Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids

artículo científico publicado en 2016

Chromosomal localization of the epsilon 1, epsilon 3 and zeta 1 subunit genes of the human NMDA receptor channel

artículo científico publicado en 1993

Churg-Strauss syndrome and the leukotriene receptor antagonist pranlukast.

artículo científico publicado en 2004

Clinical and electrophysiologic correlates of IVIg responsiveness in CIDP.

artículo científico publicado en 2005

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation

artículo científico publicado en 2016

Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population

artículo científico publicado en 2007

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

scientific article published on 03 August 2007

Clinicopathologic Features of Two Patients With Sporadic Amyotrophic Lateral Sclerosis Who Maintained Communication Ability for Over 30 Years

scientific article published on 01 November 2018

Clinicopathological characteristics of patients with amyotrophic lateral sclerosis resulting in a totally locked-in state (communication Stage V).

artículo científico publicado en 2016

Co-occurrence of argyrophilic grain disease in sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2012

Cytosolic dsDNA of mitochondrial origin induces cytotoxicity and neurodegeneration in cellular and zebrafish models of Parkinson's disease

artículo científico publicado en 2021

Daytime hypoxemia, sleep-disordered breathing, and laryngopharyngeal findings in multiple system atrophy

artículo científico publicado en 2007

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

artículo científico publicado en 2003

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation

artículo científico publicado en 1995

Depletion of medullary serotonergic neurons in patients with multiple system atrophy who succumbed to sudden death.

artículo científico publicado en 2009

Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.

artículo científico publicado en 2009

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

scientific article published on 01 October 2008

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

scientific article published on 15 September 2016

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

artículo científico publicado en 2017

Difference in MSA phenotype distribution between populations: genetics or environment?

artículo científico publicado en 2012

Differential levels of alpha-synuclein, beta-amyloid42 and tau in CSF between patients with dementia with Lewy bodies and Alzheimer's disease

artículo científico publicado en 2010

Disruption of the toxic conformation of the expanded polyglutamine stretch leads to suppression of aggregate formation and cytotoxicity

artículo científico publicado en 2004

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

artículo científico publicado en 2016

Duplication and deletion upstream of in autosomal dominant adult-onset leukodystrophy

scientific article published on 07 December 2018

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

artículo científico publicado en 2013

Early clinical features of patients with progressive supranuclear palsy with predominant cerebellar ataxia.

artículo científico publicado en 2013

Early development of autonomic dysfunction may predict poor prognosis in patients with multiple system atrophy.

artículo científico publicado en 2007

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

artículo científico publicado en 2001

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.

artículo científico publicado en 2010

Ectopic Expression Induces Abnormal Somatodendritic Distribution of Tau in the Mouse Brain

artículo científico publicado en 2019

Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials

scientific article published on 14 January 2020

Efficacy of early plasmapheresis in Bickerstaff's encephalitis

artículo científico publicado en 1998

Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy

artículo científico publicado en 2008

Elevated C-Reactive Protein Is Associated with Cognitive Decline in Outpatients of a General Hospital: The Project in Sado for Total Health (PROST).

artículo científico publicado en 2016

Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease

artículo científico publicado en 2007

Epidemiology of X-linked adrenoleukodystrophy in Japan

artículo científico publicado en 2002

Evidence that phosphorylated ubiquitin signaling is involved in the etiology of Parkinson's disease.

artículo científico publicado en 2017

Expanded polyglutamine domain proteins bind neurofilament and alter the neurofilament network.

artículo científico publicado en 1999

Expanded polyglutamine stretches form an 'aggresome'.

artículo científico publicado en 2002

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

artículo científico publicado en 2000

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

artículo científico publicado en 2018

Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions

artículo científico publicado en 2016

Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

artículo científico publicado en 2014

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2017

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.

artículo científico publicado en 2011

Generation of intracellular domain of insulin receptor tyrosine kinase by gamma-secretase.

artículo científico publicado en 2007

Generation of neuronal intranuclear inclusions by polyglutamine-GFP: analysis of inclusion clearance and toxicity as a function of polyglutamine length

artículo científico publicado en 1999

Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease

artículo científico publicado en 1995

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28

artículo científico publicado el 1 de octubre de 1992

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

artículo científico publicado en 2011

Globular glial tauopathy Type II: Clinicopathological study of two autopsy cases

scientific article published on 15 January 2019

HTRA1 Disorder

artículo científico publicado en 2019

HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade

artículo científico publicado en 2019

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

artículo científico publicado en 2013

Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1

scientific article published on 26 December 2019

Hereditary cerebral small-vessel disease

artículo científico publicado en 2013

Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes

artículo científico publicado en 2016

Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation

scientific article published on 25 May 2018

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

scientific article published on 22 August 2018

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease

artículo científico publicado en 2009

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

artículo científico publicado en 2010

Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43

artículo científico publicado en 2016

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions

artículo científico publicado en 1998

Involvement of Onuf's nucleus in Machado-Joseph disease: a morphometric and immunohistochemical study

artículo científico publicado en 2010

Is the population of Sado Island genetically close to the population of western Japan?

scientific article published on 04 June 2019

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

artículo científico publicado en 2012

Lack of association between dopamine D2 receptor gene Cys311 variant and schizophrenia

scientific article published on 01 April 1996

Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease

artículo científico publicado en 1996

Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length

artículo científico publicado en 2010

Long-term therapeutic efficacy and safety of low-dose tacrolimus (FK506) for myasthenia gravis

artículo científico publicado en 2006

Loss of Motor Neurons Innervating Cervical Muscles in Patients With Multiple System Atrophy and Dropped Head.

artículo científico publicado en 2018

Low serum 25-hydroxyvitamin D increases cognitive impairment in elderly people

artículo científico publicado en 2018

Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex

artículo científico publicado en 2008

Microglia preconditioned by oxygen-glucose deprivation promote functional recovery in ischemic rats.

artículo científico publicado en 2017

Minor splicing pathway is not minor any more: implications for the pathogenesis of motor neuron diseases

artículo científico

Modifiable Factors Associated with Cognitive Impairment in 1,143 Japanese Outpatients: The Project in Sado for Total Health (PROST).

artículo científico publicado en 2016

Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene

artículo científico publicado en 1997

Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene.

artículo científico publicado en 1998

Morphological characterisation of glial and neuronal tau pathology in globular glial tauopathy (Types II and III)

artículo científico publicado en 2019

Multiple system atrophy: clinicopathological characteristics in Japanese patients.

artículo científico publicado en 2017

Multiplex families with multiple system atrophy

artículo científico publicado en 2007

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy

artículo científico publicado en 1999

Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations

artículo científico publicado en 2008

Mutational analysis of X-linked adrenoleukodystrophy gene

artículo científico publicado en 2000

Natural history of X-linked adrenoleukodystrophy in Japan

artículo científico publicado en 2005

Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL

artículo científico publicado en 2011

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly

scientific journal article

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

artículo científico publicado en 2006

New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.

artículo científico publicado en 2017

New mutation in the non-gigantic exon of SACS in Japanese siblings

artículo científico publicado en 2007

No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy

artículo científico publicado en 1999

Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation

scientific article published on 13 July 2019

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

artículo científico publicado en 2009

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.

artículo científico publicado en 2007

Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter

artículo científico publicado en 2006

Oligomerization of expanded-polyglutamine domain fluorescent fusion proteins in cultured mammalian cells

scientific article published on 01 September 1997

Operation of a P300-based brain-computer interface in patients with Duchenne muscular dystrophy

artículo científico publicado en 2018

Paraneoplastic striatal encephalitis

artículo científico publicado en 2001

Passive transfer and active immunization with the recombinant leucine-zipper (Yo) protein as an attempt to establish an animal model of paraneoplastic cerebellar degeneration

scientific article published on 01 December 1994

Pathological and Clinical Spectrum of Progressive Supranuclear Palsy: With Special Reference to Astrocytic Tau Pathology

artículo científico publicado en 2015

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

artículo científico publicado en 2008

Performance of a real-time PCR-based approach and droplet digital PCR in detecting human parechovirus type 3 RNA.

artículo científico publicado en 2016

Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions

artículo científico publicado en 2019

Pick's disease: selective occurrence of apolipoprotein E-immunoreactive Pick bodies in the limbic system

artículo científico publicado en 1998

Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going?

scientific article published on 21 April 2010

Polyglutamine domains are substrates of tissue transglutaminase: does transglutaminase play a role in expanded CAG/poly-Q neurodegenerative diseases?

artículo científico publicado en 1997

Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation.

artículo científico publicado en 2005

Predictors of cognitive impairment in multiple system atrophy

artículo científico publicado en 2018

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

artículo científico publicado en 2012

Primary lateral sclerosis: upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration--immunohistochemical and biochemical analyses of TDP-43

scientific article published on 21 November 2011

Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease

artículo científico publicado en 1998

Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations

artículo científico publicado en 2014

Publisher Correction: A novel therapeutic approach using peripheral blood mononuclear cells preconditioned by oxygen-glucose deprivation

artículo científico publicado en 2019

Quantitative evaluation of brainstem involvement in multiple system atrophy by diffusion-weighted MR imaging

artículo científico publicado en 2004

Redefining cerebellar ataxia in degenerative ataxias: lessons from recent research on cerebellar systems.

artículo científico publicado en 2015

Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation

scientific article published on 01 February 2019

Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data.

artículo científico publicado en 2018

Role of RNF213 p.4810K variant in the development of intracranial arterial disease in patients treated with nilotinib

artículo científico publicado en 2019

Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.

artículo científico publicado en 2016

SCA17 homozygote showing Huntington's disease-like phenotype.

artículo científico publicado en 2004

Sacsin-related ataxia with neither retinal hypermyelination nor spasticity

scientific article published on 01 July 2007

Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

artículo científico publicado en 2005

Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease

artículo científico publicado en 2009

Selective silencing of a mutant transthyretin allele by small interfering RNAs

artículo científico publicado en 2005

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

artículo científico publicado en 2003

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.

artículo científico publicado en 2008

Shrinkage of the myenteric neurons of the small intestine in patients with multiple system atrophy

scientific article published on 22 August 2019

Spinocerebellar Ataxia Type 17

artículo científico publicado en 2019

Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

artículo científico publicado en 2006

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

artículo científico publicado en 2013

Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology.

artículo científico publicado en 2008

Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions

artículo científico publicado en 2008

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation

artículo científico publicado en 2007

TDP-43 mutation in familial amyotrophic lateral sclerosis

artículo científico publicado en 2008

The Clinical Features, Risk Factors, and Surgical Treatment of Cervicogenic Headache in Patients With Cervical Spine Disorders Requiring Surgery.

artículo científico publicado en 2017

The FHA domain of aprataxin interacts with the C-terminal region of XRCC1

artículo científico publicado en 2004

The optineurin/TIA1 pathway inhibits aberrant stress granule formation and reduces ubiquitinated TDP-43

artículo científico publicado en 2021

Time course of polyglutamine aggregate body formation and cell death: enhanced growth in nucleus and an interval for cell death

artículo científico publicado en 2002

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

artículo científico publicado en 2008

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

artículo científico publicado en 2020

Toxicity of expanded polyglutamine-domain proteins in Escherichia coli.

artículo científico publicado en 1996

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

artículo científico publicado en 1999

Transglutaminase-catalyzed inactivation of glyceraldehyde 3-phosphate dehydrogenase and alpha-ketoglutarate dehydrogenase complex by polyglutamine domains of pathological length

artículo científico publicado en 1997

Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 1. Mouse strains bearing different MHC molecules produce antibodies on immunization with recombinant Yo protein, but do not cause Purkinje cell loss

scientific article published on 01 February 1995

Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe

artículo científico publicado en 1995

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

artículo científico publicado en 1994

Use of a radiation-reduced hybrid panel for the localization of seven markers in the Xq28 region of the human genome

artículo científico publicado en 1994

Variants associated with Gaucher disease in multiple system atrophy

artículo científico publicado en 2015

What is cerebral small vessel disease?

artículo científico publicado en 2011

[Clinical and pathological spectrum of TDP-43 associated ALS]

artículo científico publicado en 2010

[Dementia: progress in diagnosis and treatment; Topics, V. Recent topics; 4. Detection of novel dementia-related genes; 2) Dysregulation of TGF-beta family signaling and hereditary cerebral small vessel disease: insight into molecular pathogenesis o

scientific article published on 01 August 2011

[Evaluation of two patients with SCA2 with frontal lobe dysfunction using brain SPECT with three-dimensional stereotactic surface projections (3D-SSP)].

artículo científico publicado en 2005

[FTLD/ALS as TDP-43 proteinopathies]

artículo científico publicado en 2010

[Molecular Pathogenesis of Amyotrophic Lateral Sclerosis]

artículo científico publicado en 2019

[Molecular mechanism for spinocerebellar ataxias]

artículo científico publicado en 2009

[Molecular mechanism for spinocerebellar ataxias]

artículo científico publicado en 2009

[Molecular mechanism of amyotrophic lateral sclerosis (ALS) from the viewpoint of the formation and degeneration of transactive response DNA-binding protein 43 kDa (TDP-43) inclusions]

scientific article published on 19 January 2020

[Molecular pathogenesis of ALS in TDP43 era].

artículo científico publicado en 2013

[TGF-β family signaling contributes to human cerebral small vessel disease]

artículo científico publicado en 2011

[What is ataxia? - Towards developing a new scale for ataxia]

artículo científico publicado en 2012

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