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List of works by Gen Sobue

17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration

scientific article published on 11 September 2005

17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse

scientific article

3'UTR Length-Dependent Control of SynGAP Isoform α2 mRNA by FUS and ELAV-like Proteins Promotes Dendritic Spine Maturation and Cognitive Function

scientific article published in September 2017

A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan

scientific article

A behavior-based drug screening system using a Caenorhabditis elegans model of motor neuron disease

scientific article published on 12 July 2019

A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.

scientific article published on 13 May 2009

A case of acquired hepatocerebral degeneration with prominent improvement of parkinsonism and cognitive deficits after living-donor liver transplantation ⬇️

scientific article published on January 1, 2012

A case of dementia with Lewy bodies that temporarily showed symptoms similar to Creutzfeldt-Jakob disease

scientific article published on 26 November 2010

A case of hypoglycemic coma with good outcome despite sustained unconsciousness and widespread leukoencephalopathy

scientific article published in January 2013

A case of nonsystemic vasculitic neuropathy with spondylosis deformans in an 84-year-old woman

scientific article

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

scientific article published on 20 March 2015

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

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

scientific article published on 23 September 2020

A novel MPZ mutation in Charcot–Marie–Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies ⬇️

scientific article published on September 21, 2011

A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.

scientific article published on 8 January 2016

A role for HSP70 in protecting against indomethacin-induced gastric lesions

scientific article published on 13 May 2009

A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy

scientific article

ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor

scientific article

Ablation of keratan sulfate accelerates early phase pathogenesis of ALS.

scientific article

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis

scientific article published on 28 October 2008

Age of onset differentially influences the progression of regional dysfunction in sporadic amyotrophic lateral sclerosis

scientific article published on 15 April 2016

Alcoholic Myelopathy and Nutritional Deficiency

scientific article published on January 2017

Alcoholic neuropathy

scientific article

Alcoholic neuropathy is clinicopathologically distinct from thiamine-deficiency neuropathy.

scientific article published in July 2003

Alleviating neurodegeneration by an anticancer agent: an Hsp90 inhibitor (17-AAG).

scientific article published on November 2006

Alteration of familial ALS-linked mutant SOD1 solubility with disease progression: Its modulation by the proteasome and Hsp70

scientific article published in 2006

Alterations in the blood-spinal cord barrier in TDP-43 conditional knockout mice

scientific article published on 6 May 2015

Altered GluA1 (Gria1) Function and Accumbal Synaptic Plasticity in the ClockΔ19 Model of Bipolar Mania

scientific article published on 27 June 2017

Amyotrophic lateral sclerosis: an update on recent genetic insights

scientific article published on 02 October 2013

An acute severe heat stroke patient showing abnormal diffuse high intensity of the cerebellar cortex in diffusion weighted image: a case report

scientific article

An autopsied case of dentato-rubro-pallido-luysian atrophy with atypical pathological lesions

scientific article

An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein.

scientific article published on 28 April 2009

An unbiased data-driven age-related structural brain parcellation for the identification of intrinsic brain volume changes over the adult lifespan.

scientific article published on 7 December 2017

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

scientific article

Animal models of neurodegenerative diseases on the road to disease-modifying therapy: spinal and bulbar muscular atrophy

scientific article published in November 2007

Archaeal proteasomes effectively degrade aggregation-prone proteins and reduce cellular toxicities in mammalian cells

scientific article published on 22 June 2006

Association of Leukoaraiosis With Convalescent Rehabilitation Outcome in Patients With Ischemic Stroke

scientific article

Association of chronic kidney disease and cerebral small vessel disease with cognitive impairment in elderly patients with type 2 diabetes

scientific article published on January 2013

Astrocyte-derived TGF-β1 accelerates disease progression in ALS mice by interfering with the neuroprotective functions of microglia and T cells

scientific article published on 16 April 2015

Autoimmune autonomic ganglionopathy and acute autonomic and sensory neuropathy

scientific article

Autonomic manifestations in acute sensory ataxic neuropathy: a case report

scientific article published on 15 April 2013

Autopsy case of sporadic Creutzfeldt-Jakob disease presenting with signs suggestive of brainstem and spinal cord involvement

scientific article

BIIB021, a synthetic Hsp90 inhibitor, induces mutant ataxin-1 degradation through the activation of heat shock factor 1.

scientific article published on 4 April 2016

Behavioral changes in early ALS correlate with voxel-based morphometry and diffusion tensor imaging

scientific article published on 8 June 2011

Biomarker-based analysis of preclinical progression in spinal and bulbar muscular atrophy

scientific article published on 23 March 2018

Blockade of gap junction hemichannel suppresses disease progression in mouse models of amyotrophic lateral sclerosis and Alzheimer's disease

scientific article (publication date: 2011)

Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy ⬇️

scientific article published on August 11, 2011

Brugada syndrome in spinal and bulbar muscular atrophy

scientific article published on 23 April 2014

CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations.

scientific article

CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA.

scientific article published on 4 December 2007

Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin

scientific article published on 2 March 2006

Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy

scientific article published on 5 October 2017

Cardiac parasympathetic dysfunction in the early phase of Parkinson's disease

scientific article published on 29 November 2016

Cardiac reserve in Parkinson's disease and exercise therapy

scientific article

Case of adult-onset neuronal intranuclear hyaline inclusion disease with negative electroretinogram

scientific article published on 22 March 2017

Caspase-1 and -3 mRNAs are differentially upregulated in motor neurons and glial cells in mutant SOD1 transgenic mouse spinal cord: a study using laser microdissection and real-time RT-PCR.

scientific article

Central nervous system vasculitis according to the 2012 revise international Chapel Hill consensus conference nomenclature of vasculitides

scientific article

Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases

scientific article

Changes in white matter fiber density and morphology across the adult lifespan: A cross-sectional fixel-based analysis

scientific article published on 18 April 2020

Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility

scientific article published in February 2018

Classic polyarteritis nodosa presenting rare clinical manifestations in a patient with hemophilia A.

scientific article published in June 2006

Clinical analysis of longstanding subacute myelo-optico-neuropathy: sequelae of clioquinol at 32 years after its ban.

scientific article published in March 2004

Clinical and neuropathological correlates of Lewy body disease

scientific article published on 14 January 2003

Clinical correlates of repetitive speech disorders in Parkinson's disease

scientific article published on 11 April 2019

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

scientific article published on 15 December 2012

Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA).

scientific article published on January 2010

Clinical guideline review: Guillain-barre syndrome and chronic inflammatory demyelinating polyneuropathy

scientific article published in August 2002

Clinical phenotype of Charcot-Marie-Tooth disease (CMT) and familial amyloid polyneuropathy (FAP)

scientific article published in November 2003

Clinicopathologic characteristics of five autopsied cases of dura mater-associated Creutzfeldt-Jakob disease

scientific article published on February 2008

Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type

scientific article published on 18 July 2006

Clinicopathologic features of folate-deficiency neuropathy.

scientific article

Clinicopathological characteristics of subtypes of chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 21 June 2019

Clinicopathological features of acute autonomic and sensory neuropathy

scientific article published on 23 August 2010

Clinicopathological features of neuropathy in anti-neutrophil cytoplasmic antibody-associated vasculitis ⬇️

scientific article published on 06 February 2013

Clinicopathological features of sarcoidosis manifesting as generalized chronic myopathy

scientific article published on 26 February 2015

Cognitive impairments in Machado-Joseph disease

scientific article

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

scientific article

Contrast-enhanced 2D cine phase MR angiography for measurement of basilar artery blood flow in posterior circulation ischemia.

scientific article published in September 2002

Correlation between pyramidal tract degeneration and widespread white matter involvement in amyotrophic lateral sclerosis: a study with tractography and diffusion-tensor imaging

scientific article published in October 2009

Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy

scientific article published on 22 February 2017

Corrigendum to "The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons" [FEBS Open Bio 4 (2014) 1-10]

scientific article published on 22 November 2014

DNA methylation inhibitor attenuates polyglutamine-induced neurodegeneration by regulating Hes5

scientific article published on 01 May 2019

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

scientific article

Default Mode Network Changes in Moyamoya Disease Before and After Bypass Surgery∼Preliminary Report∼.

scientific article published on 25 January 2018

Demographic features of Japanese patients with sporadic inclusion body myositis: a single-center referral experience

scientific article published in February 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

scientific article (publication date: 2003)

Demyelinating neuropathy and autoimmune hemolytic anemia in a patient with pancreatic cancer.

scientific article published in March 2012

Detecting sub-second changes in brain activation patterns during interictal epileptic spike using simultaneous EEG-fMRI.

scientific article published on 27 November 2017

Development of therapeutics for spinal and bulbar muscular atrophy (SBMA)

scientific article

Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features

scientific article published on July 2010

Diagnostic accuracy of diffusion tensor imaging in amyotrophic lateral sclerosis: a systematic review and individual patient data meta-analysis

scientific article

Difference in chronological changes of outcome measures between untreated and placebo-treated patients of spinal and bulbar muscular atrophy ⬇️

scientific article published on September 28, 2011

Differential Recovery in Cardiac and Vasomotor Sympathetic Functional Markers in a Patient with Acute Autonomic Sensory and Motor Neuropathy ⬇️

scientific article published on February 15, 2013

Differential age-dependent trophic responses of nodose, sensory, and sympathetic neurons to neurotrophins and GDNF: potencies for neurite extension in explant culture

scientific article published on June 2002

Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis

scientific article published on 01 January 2002

Differential, size-dependent sensory neuron involvement in the painful and ataxic forms of primary Sjögren's syndrome-associated neuropathy

scientific article published in June 2012

Differentially expressed genes in sporadic amyotrophic lateral sclerosis spinal cords--screening by molecular indexing and subsequent cDNA microarray analysis

scientific article

Disease progression of human SOD1 (G93A) transgenic ALS model rats

scientific article published on January 2006

Disruption of Axonal Transport in Motor Neuron Diseases ⬇️

scientific article published on January 23, 2012

Disruption of blood-nerve barriers in hereditary transthyretin (ATTR) amyloidosis

scientific article published in March 2017

Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm

scientific article published on 11 December 2013

Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy

scientific article published on 25 August 2009

Distinct manifestation of cognitive deficits associate with different resting-state network disruptions in non-demented patients with Parkinson's disease.

scientific article published in February 2018

Distinct pathogenesis in nonsystemic vasculitic neuropathy and microscopic polyangiitis

scientific article published on 23 October 2017

Distinct phenotypes of speech and voice disorders in Parkinson's disease after subthalamic nucleus deep brain stimulation

scientific article published on 3 October 2014

Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study

scientific article published on 21 August 2016

Distribution of tuft-shaped astrocytes in the cerebral cortex in progressive supranuclear palsy

scientific article published on 7 September 2004

Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1.

scientific article published on 31 July 2007

Dorfin Localizes to Lewy Bodies and Ubiquitylates Synphilin-1 ⬇️

scientific article (publication date: August 2003)

Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis

scientific article

Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis

scientific article

Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity

scientific article

Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity

scientific article

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

scientific article

ERRATUM: Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions.

scientific article published on 22 November 2013

Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids

scientific article published in December 2014

Editorial: Brain Protein Aging and Dementia Control

scholarly article by Gen Sobue published 2019 in Frontiers in Neuroscience

Effects of Gradient Coil Noise and Gradient Coil Replacement on the Reproducibility of Resting State Networks.

scientific article

Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial

scientific article published on August 4, 2010

Efficacy of intravenous immunoglobulin for treatment of Lambert-Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: a case report.

scientific article

Endolymphatic space size in patients with vestibular migraine and Ménière's disease

scientific article published on 7 August 2014

Epidemiologic study of Creutzfeldt-Jakob disease from autopsy-confirmed cases

scientific article

Epidemiology and clinical symptoms of CIDP

scientific article published on September 2015

Evaluation of resting state networks in patients with gliomas: connectivity changes in the unaffected side and its relation to cognitive function

scientific article

Exosome secretion is a key pathway for clearance of pathological TDP-43.

scientific article published on 27 September 2016

Expanding concept of clinical conditions and symptoms in multiple system atrophy

scientific article

Exploration of pathogenesis and therapy development for ALS employing sporadic disease model

scientific article

Exploration of pathogenesis-associated molecules and development of disease models for sporadic ALS

scientific article

Expression of tumor necrosis factor-alpha in regenerating muscle fibers in inflammatory and non-inflammatory myopathies

scientific article published on 22 November 2002

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

scientific article published on 09 May 2013

FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD.

scientific article published on January 2013

FUS/TLS acts as an aggregation-dependent modifier of polyglutamine disease model mice

scientific article published on 14 October 2016

Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients

scientific article published on 30 December 2014

Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease

scientific article published on 15 January 2010

Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.

scientific article

Filling in the missing puzzle piece between cardiac MIBG scintigraphy findings and Parkinson's disease pathology

scientific article

Follow the patient: process and outcome evaluation of medical students' educational experiences accompanying outpatients

scientific article published in February 2006

Fractional anisotropy values detect pyramidal tract involvement in multiple system atrophy

scientific article published on 23 May 2008

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

scientific article published on 11 December 2017

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy

scientific article published on 22 October 2019

Gene Expression Profile of Inflammatory Myopathy with Malignancy is Similar to that of Dermatomyositis rather than Polymyositis

scientific article published on 15 September 2016

Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis

scientific article

Gene expression profiling toward understanding of ALS pathogenesis

scientific article

Genistein, a natural product derived from soybeans, ameliorates polyglutamine-mediated motor neuron disease

scientific article published on 27 February 2013

Geranylgeranylacetone ameliorates ischemic acute renal failure via induction of Hsp70.

scientific article published in June 2005

Getting a handle on Huntington's disease: the case for cholesterol

scientific article published in March 2009

Global imperatives and challenges facing the practice of neurology

scientific article published in December 2011

Glycoprotein nonmetastatic melanoma protein B ameliorates skeletal muscle lesions in a SOD1G93A mouse model of amyotrophic lateral sclerosis.

scientific article published on 3 July 2015

HSP70 confers protection against indomethacin-induced lesions of the small intestine.

scientific article

Heat shock factor-1 influences pathological lesion distribution of polyglutamine-induced neurodegeneration

scientific article

Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein

scientific article published on 01 March 2003

Heat shock proteins in neurodegenerative diseases: pathogenic roles and therapeutic implications

scientific article published in December 2009

Hemodialysis-related portal-systemic encephalopathy

scientific article published in May 2015

Heterogeneity and continuum of multiple sclerosis phenotypes in Japanese according to the results of the fourth nationwide survey

scientific article published on 7 February 2009

High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients ⬇️

scientific article published on April 12, 2011

Higher Levels of Cystatin C Are Associated with Extracranial Carotid Artery Steno-Occlusive Disease in Patients with Noncardioembolic Ischemic Stroke

scientific article published on 20 January 2016

Hsp105alpha suppresses the aggregation of truncated androgen receptor with expanded CAG repeats and cell toxicity

scientific article published on 24 April 2003

Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1.

scientific article published in September 2002

Hypophosphataemic neuropathy during total parenteral nutrition ⬇️

scientific article published on February 2, 2009

Hypophosphataemic neuropathy in a patient who received intravenous hyperalimentation

scientific article published on October 2007

Hyposmia and cardiovascular dysautonomia correlatively appear in early-stage Parkinson's disease.

scientific article published on 20 February 2014

IgG4 anti-neurofascin155 antibodies in chronic inflammatory demyelinating polyradiculoneuropathy: Clinical significance and diagnostic utility of a conventional assay

scientific article published on 9 November 2016

IgG4-related neuropathy: a case report

scientific article published in April 2013

IgM MGUS anti-MAG neuropathy with predominant muscle weakness and extensive muscle atrophy

Immunoglobulin g for the treatment of chronic pain: report of an expert workshop

scientific article published on 14 January 2014

Impact of albuminuria on early neurological deterioration and lesion volume expansion in lenticulostriate small infarcts.

scientific article

Impaired Pain Processing Correlates with Cognitive Impairment in Parkinson's Disease

scientific article

Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy

scientific article published on 23 June 2016

Importance of Functional Loss of FUS in FTLD/ALS.

scientific article published on 3 May 2018

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

scientific article published on 28 August 2007

Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy

scientific article

Intraepidermal nerve fibre density in POEMS (Crow-Fukase) syndrome and the correlation with sural nerve pathology

scientific article published on 14 April 2016

Intravenous immunoglobulin for chronic residual peripheral neuropathy in eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome): a multicenter, double-blind trial

scientific article

Intravenous immunoglobulin for maintenance treatment of chronic inflammatory demyelinating polyneuropathy: a multicentre, open-label, 52-week phase III trial

scientific article

Intravenous immunoglobulin for maintenance treatment of multifocal motor neuropathy: A multi-center, open-label, 52-week phase 3 trial.

scientific article published on 24 April 2018

Intravenous immunoglobulin therapy in proximal diabetic neuropathy

scientific article published on 23 January 2009

Intravenous immunoglobulin treatment for painful sensory neuropathy associated with Sjögren's syndrome

scientific article

Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum

scientific article published on 10 August 2016

Japanese POEMS syndrome with Thalidomide (J-POST) Trial: study protocol for a phase II/III multicentre, randomised, double-blind, placebo-controlled trial

scientific article

Japanese version of the ALS-FTD-Questionnaire (ALS-FTD-Q-J).

scientific article published on 18 May 2016

Lambert-Eaton myasthenic syndrome associated with pulmonary squamous cell carcinoma and circulating anti-P/Q-type voltage-gated calcium channel antibody

scientific article published in January 2010

Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy

scientific article published on 18 May 2003

Lewy body‐related α‐synucleinopathy in the spinal cord of cases with incidental Lewy body disease ⬇️

scientific article published on March 29, 2011

Limbic encephalitis associated with relapsing polychondritis responded to infliximab and maintained its condition without recurrence after discontinuation: a case report and review of the literature

scientific article

Lipid peroxidation and advanced glycation end products in the brain in normal aging and in Alzheimer's disease

scientific article

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease: Supplementary material

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

scientific article published on 22 July 2019

Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study

scientific article published on 5 August 2017

Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy ⬇️

scientific article published on July 6, 2012

Loss of TDP-43 causes age-dependent progressive motor neuron degeneration

scientific article published on 28 February 2013

Lower motor neuron involvement in TAR DNA-binding protein of 43 kDa-related frontotemporal lobar degeneration and amyotrophic lateral sclerosis

scientific article published on February 2014

Lowered cardiac sympathetic nerve performance in response to exercise in Parkinson's disease

scientific article published on July 2010

MM2-cortical-type sporadic Creutzfeldt-Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course

scientific article

MRI mean diffusivity detects widespread brain degeneration in multiple sclerosis

scientific article published on 23 May 2012

Macroautophagy is regulated by the UPR-mediator CHOP and accentuates the phenotype of SBMA mice

scientific article

Marked Involvement of the Striatal Efferent System in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

scientific article published on 26 June 2016

Markers for Guillain-Barré syndrome with poor prognosis: a multi-center study

scientific article

Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease

scientific article

Metabolic and nutritional neuropathy

scientific article published in November 2008

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

scientific article published on 12 January 2016

Microalbuminuria is independently associated with deep or infratentorial brain microbleeds in hypertensive adults ⬇️

scientific article published on January 12, 2012

Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy

scientific article

Microglial keratan sulfate epitope elicits in central nervous tissues of transgenic model mice and patients with amyotrophic lateral sclerosis

scientific article published on 8 September 2015

Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis

scientific article published on October 2016

Modulation of Hsp90 function in neurodegenerative disorders: a molecular-targeted therapy against disease-causing protein

scientific article

Molecular Genetics and Biomarkers of Polyglutamine Diseases

scientific article

Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy

scientific article published on 12 December 2011

Molecular-targeted therapies for spinal and bulbar muscular atrophy

scientific article published in November 2009

Molecular-targeted therapy for neurodegenerative diseases

scientific article published in November 2009

Molecular-targeted therapy for spinal and bulbar muscular atrophy (SBMA) ⬇️

scientific article published on November 1, 2010

Mononeuritis multiplex with tumefactive cellular infiltration in a patient with reactive lymphoid hyperplasia with increased immunoglobulin G4-positive cells

scientific article

Mortality and morbidity in peripheral neuropathy associated Churg-Strauss syndrome and microscopic polyangiitis.

scientific article published on July 2002

Motor conduction studies in Miller Fisher syndrome with severe tetraparesis

scientific article published on 01 March 2002

Motor neuron disease

scientific article published in May 2004

Motor neuron disease up-to date

scientific article published in April 2005

Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker

scientific article published in March 2006

Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy.

scientific article

Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract.

scientific article

Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan

Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients

scientific article published on 18 April 2006

Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients

scientific article

Nerve excitability properties in Charcot-Marie-Tooth disease type 1A.

scientific article

Neuronal intranuclear inclusion disease presenting with resting tremor

scientific article published on 28 May 2014

Neuropathologic characteristics of brainstem lesions in sporadic Creutzfeldt-Jakob disease

scientific article published on 3 June 2005

Neuropathologic characteristics of spinal cord lesions in sporadic Creutzfeldt-Jakob disease

scientific article published on 21 September 2005

Neuropathological studies of patients with possible non-herpetic acute limbic encephalitis and so-called acute juvenile female non-herpetic encephalitis

scientific article

Neuropathology and omics in motor neuron diseases ⬇️

scientific article published on December 22, 2011

Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy

scientific article published on 10 March 2009

Neuropathy associated with IgM monoclonal gammopathy with anti-myelin-associated glycoprotein (MAG) antibody

scientific article published on September 2015

Neuroradiologic and clinical abnormalities in dementia of diffuse neurofibrillary tangles with calcification (Kosaka-Shibayama disease).

scientific article published on May 2003

New Diagnostic Criteria for Parkinson's Disease: MDS-PD Criteria

scientific article published in February 2018

New teased-fibre definitions represent specific mechanisms of neuropathy

scientific article published on 01 November 2018

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

scientific article published on 7 December 2015

Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review

Obstructive sleep apnea syndrome (OSAS) presenting as cerebral venous thrombosis

scientific article published on 15 October 2009

Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial

scientific article published on 09 July 2018

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy

scientific article published on August 2009

Oxidative stress induced by glutathione depletion reproduces pathological modifications of TDP-43 linked to TDP-43 proteinopathies ⬇️

scientific article published on December 13, 2011

Paeoniflorin eliminates a mutant AR via NF-YA-dependent proteolysis in spinal and bulbar muscular atrophy

scientific article published on 18 February 2014

Pain-related differential expression of NGF, GDNF, IL-6, and their receptors in human vasculitic neuropathies.

scientific article published on November 2003

Paradigm shift in clinical trials for neurodegenerative diseases

scientific article

Parallel expression of neurotrophic factors and their receptors in chronic inflammatory demyelinating polyneuropathy

scientific article published on April 2002

Paraneoplastic neuropathy: wide-ranging clinicopathological manifestations

scientific article published on October 2011

Paranodal dissection in chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 and anti-contactin-1 antibodies

scientific article published on 10 January 2017

Partial impairment of c-Ret at tyrosine 1062 accelerates age-related hearing loss in mice

scientific article published on 25 May 2011

Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA).

scientific article

Pathogenesis of Frontotemporal Lobar Degeneration: Insights From Loss of Function Theory and Early Involvement of the Caudate Nucleus.

scientific article published on 12 July 2018

Pathogenesis-targeting therapeutics for spinal and bulbar muscular atrophy (SBMA).

scientific article published on 22 May 2009

Pathologic Involvement of Glutamatergic Striatal Inputs From the Cortices in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

scientific article published in September 2017

Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease

scientific article published on 10 October 2016

Patient-reported outcomes with subcutaneous immunoglobulin in chronic inflammatory demyelinating polyneuropathy: the PATH study

scientific article published on 23 September 2019

Peripheral Nerve Society Guideline on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary

scientific article published on September 1, 2010

Perspectives on molecular targeted therapies and clinical trials for neurodegenerative diseases

scientific article published on March 2012

Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease

scientific article

Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy

scientific article

Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders

scientific article

Polyglutamine diminishes VEGF; passage to motor neuron death?

scientific article published on March 2004

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

scientific article published on 24 July 2012

Position-specific binding of FUS to nascent RNA regulates mRNA length

scientific article published on May 2015

Postgastrectomy polyneuropathy with thiamine deficiency is identical to beriberi neuropathy

scientific article published in November 2004

Potential therapeutic targets in polyglutamine-mediated diseases

scientific article published on 04 September 2014

Prevalence and Incidence of Amyotrophic Lateral Sclerosis in Japan

scientific article published on 23 August 2014

Prevalence and incidence of amyotrophic lateral sclerosis in Japan

scientific article

Prevention of UVB radiation-induced epidermal damage by expression of heat shock protein 70.

scientific article

Prognosis of amyotrophic lateral sclerosis patients undergoing tracheostomy invasive ventilation therapy in Japan

scientific article published on 14 January 2020

Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients

scientific article

Progressive and widespread brain damage in ALS: MRI voxel-based morphometry and diffusion tensor imaging study

scientific article published in January 2011

Pupillary autonomic dysfunction in multiple system atrophy and Parkinson's disease: an assessment by eye-drop tests

scientific article published on 3 February 2010

Pupillary supersensitivity and visual disturbance in Parkinson's disease

scientific article published on 11 February 2008

Putaminal magnetic resonance imaging features at various magnetic field strengths in multiple system atrophy

scientific article published in September 2010

Pyramidal tract degeneration in sporadic Creutzfeldt-Jakob disease

scientific article published in October 2007

Quantitative Assessment of Swallowing Dysfunction in Patients with Spinal and Bulbar Muscular Atrophy

scientific article published on 11 October 2017

Questionnaire survey on the process of specialty training in neurology in Japan

scientific article published on 21 June 2017

R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5.

scientific article

RNP2 of RNA recognition motif 1 plays a central role in the aberrant modification of TDP-43.

scientific article

Rapidly developing weakness mimicking Guillain-Barré syndrome in beriberi neuropathy: two case reports

scientific article published on 28 April 2008

Rapidly progressive fatal respiratory failure (Ondine's curse) in the lateral medullary syndrome

scientific article published in January 2004

Relationship between cardiac 123I-metaiodobenzylguanidine scintigraphy and cardiovascular autonomic function test (standing test) in Parkinson's disease

scientific article published in January 2008

Reorganization of brain networks and its association with general cognitive performance over the adult lifespan

scientific article published on 06 August 2019

Repair by Src kinase of function-impaired RET with multiple endocrine neoplasia type 2A mutation with substitutions of tyrosines in the COOH-terminal kinase domain for phenylalanine.

scientific article published on April 2002

Reply to "GGC Repeat Expansion of NOTCH2NLC is rare in European Leukoencephalopathy"

scientific article published on 15 June 2020

Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma

scientific article published in August 2017

Respiratory failure in a patient with antecedent poliomyelitis: amyotrophic lateral sclerosis or post-polio syndrome?

scientific article published on 13 September 2005

Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study

scientific article published on 01 March 2019

Retinoic-acid-concentration-dependent acquisition of neural cell identity during in vitro differentiation of mouse embryonic stem cells

scientific article published in November 2004

Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3.

scientific article published in August 2014

Scientific highlights. 17th International Symposium on ALS/MND Yokohama, Japan, November 30, 2006 through December 2, 2006.

scientific article published in April 2007

Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis ⬇️

scientific article published on October 16, 2010

Serum IgG anti-GD1a antibody and mEGOS predict outcome in Guillain-Barré syndrome

scientific article published on 11 October 2020

Severe brain atrophy in the elderly as a risk factor for lower respiratory tract infection

scientific article

Severe hyposmia and aberrant functional connectivity in cognitively normal Parkinson's disease

scientific article published on 5 January 2018

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy.

scientific article published on 30 July 2015

Skin sympathetic nerve function during sleep--a study with effector responses

scientific article

Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

scientific article published on 21 April 2004

Spatiotemporal recapitulation of central nervous system development by murine embryonic stem cell-derived neural stem/progenitor cells

scientific article published on 28 August 2008

Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives

scientific article published on 27 February 2004

Spinal cord stimulation markedly ameliorated refractory neuropathic pain in transthyretin Val30Met familial amyloid polyneuropathy

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA ⬇️

scientific article published on January 25, 2013

Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy

scientific article published on 19 September 2019

Structural MRI correlates of amyotrophic lateral sclerosis progression

scientific article published on 13 May 2017

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial

scientific article published on 6 November 2017

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial

scientific article published on 25 July 2016

Subsecond EEG-fMRI analysis for presurgical evaluation in focal epilepsy

scientific article published on 13 March 2020

Successful early-stage corticosteroid treatment in a case of granulomatous angiitis of the central nervous system

scientific article published on August 2003

Suppression of UV-induced wrinkle formation by induction of HSP70 expression in mice

scientific article

Suppression of melanin production by expression of HSP70

scientific article published on 22 February 2010

Swallowing markers in spinal and bulbar muscular atrophy

scientific article published on 24 May 2017

Sweet relief for Huntington disease

scientific article published in February 2004

Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis

article published in 2018

TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases

scientific article

TGF-beta signaling in neurodegenerative diseases

scientific article published in November 2011

TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals

scientific article

Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

scientific article published in August 2002

The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons

scientific article

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

scientific article

The efficacy of olanzapine for delusion in patients with Parkinson's disease

scientific article published in June 2005

The neural network basis of altered decision-making in patients with amyotrophic lateral sclerosis

scientific article published on 22 October 2020

The potential of GPNMB as novel neuroprotective factor in amyotrophic lateral sclerosis ⬇️

scientific article published on August 13, 2012

The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons

scientific article published on 10 June 2013

The spectrum of immune-mediated autonomic neuropathies: insights from the clinicopathological features: Table 1 ⬇️

scientific article published on August 20, 2012

The video images of sleep attacks in Parkinson's disease

scientific article published in January 2008

The wide spectrum of clinical manifestations in Sjögren's syndrome-associated neuropathy.

scientific article

Tongue pressure as a novel biomarker of spinal and bulbar muscular atrophy

scientific article

Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy

scientific article published on 22 October 2013

Transcriptional and post-transcriptional regulation of transmembrane protein 132A.

scientific article published on 30 April 2015

Transforming growth factor-β signaling is upregulated in sporadic inclusion body myositis

scientific article

Treatment of spinal and bulbar muscular atrophy

scientific article published in September 2004

Treatment with Creatine Monohydrate in Spinal and Bulbar Muscular Atrophy: Protocol for a Randomized, Double-Blind, Placebo-Controlled Trial.

scientific article published on 5 March 2018

Tremor is attenuated during walking in essential tremor with resting tremor but not parkinsonian tremor ⬇️

scientific article published on July 13, 2011

Tuft-shaped astrocytes in Lewy body disease

scientific article

Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form

scientific article published in November 2002

Ultrastructural mechanisms of macrophage-induced demyelination in Guillain-Barré syndrome

scientific article published on 03 April 2020

Uncompacted Myelin Lamellae and Nodal Ion Channel Disruption in POEMS Syndrome

scientific article published in December 2015

Underediting of GluR2 mRNA, a neuronal death inducing molecular change in sporadic ALS, does not occur in motor neurons in ALS1 or SBMA.

scientific article

Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's disease

scientific article published on 23 November 2010

Usefulness of combined fractional anisotropy and apparent diffusion coefficient values for detection of involvement in multiple system atrophy

scientific article

Variants associated with Gaucher disease in multiple system atrophy

scientific article

Vasculitic Neuropathy Following Exposure to a Glyphosate-based Herbicide

scientific article published on June 2017

Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy

scientific article published on 2 November 2015

Voice features of Parkinson's disease patients with subthalamic nucleus deep brain stimulation

scientific article published on 26 February 2015

What is the prototype of familial amyloid polyneuropathy?

scientific article published on 12 September 2013

Widespread active inflammatory lesions in a case of HTLV-I-associated myelopathy lasting 29 years

scientific article published on 14 September 2004

Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients

scientific article published on 19 January 2005

Widespread spinal cord involvement in progressive supranuclear palsy

scientific article published on August 2007

X-Linked inhibitor of apoptosis protein is involved in mutant SOD1-mediated neuronal degeneration

scientific journal article

YAP-dependent necrosis occurs in early stages of Alzheimer's disease and regulates mouse model pathology

scientific article published on 24 January 2020

[Clinical picture and diagnostic criteria of multiple system atrophy].

scientific article

[Clinicopathological features of neuropathy associated with IgG4-related disease].

scientific article

[Cognitive impairment in patients with multiple system atrophy].

scientific article

[Gene expression profile of spinal ventral horn in ALS].

scientific article

[Magnetic resonance spectroscopy and its clinical applications in multiple sclerosis].

scientific article

[MicroRNA in neurodegenerative disorders].

scientific article

[The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics].

scientific article published in December 2014

c-Abl inhibition delays motor neuron degeneration in the G93A mouse, an animal model of amyotrophic lateral sclerosis

scientific article

c-Jun N-terminal kinase pathway mediates Lactacystin-induced cell death in a neuronal differentiated Neuro2a cell line

scientific article published on December 2002

c-Ret-mediated hearing loss in mice with Hirschsprung disease

scientific article

dnc-1/dynactin 1 Knockdown Disrupts Transport of Autophagosomes and Induces Motor Neuron Degeneration ⬇️

scientific article published on February 7, 2013

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