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List of works by Hirofumi Maruyama

4',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits

scientific article published on 14 August 2018

A Case of Recurrent Ischemic Stroke Involving Subacute, Progressive Intracranial Cerebral Arterial Sclerosis Prior to Diagnosis with JAK2-mutated Polycythemia Vera.

scientific article published on 29 September 2015

A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state

scientific article published on 19 May 2014

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

scientific journal article

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan

scientific article published in March 2004

A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.

scientific article

Ability of the Ankle Brachial Index and Brachial-Ankle Pulse Wave Velocity to Predict the 3-Month Outcome in Patients with Non-Cardioembolic Stroke

scientific article published on 15 May 2017

An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation

scientific article published on 17 June 2013

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

scientific article published on 07 January 2021

Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex

scientific article published on 15 January 2018

Blood pressure control with cilnidipine treatment in Japanese post-stroke hypertensive patients: The CA-ATTEND study

scientific article published on 01 January 2017

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

scientific article published on January 16, 2013

Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease ⬇️

scientific article published on January 1, 1998

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene ⬇️

scientific article published on December 15, 2001

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation ⬇️

scientific article published on July 29, 2013

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

scientific article published on 05 June 2011

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

scientific article published on 01 July 2002

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

scientific article published on 13 November 2013

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing

scientific article

Deviation in the recovery of the lower limb and respiratory muscles of patients with polymyositis: a preliminary clinical study

scientific article published on 29 September 2016

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

scientific article published on 01 July 2002

Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.

scientific article published in January 2004

Effects of Cilnidipine, an L/N-Type Calcium Channel Blocker, on Carotid Atherosclerosis in Japanese Post-Stroke Hypertensive Patients: Results from the CA-ATTEND Study

scientific article published on 9 December 2017

Effects of controlled abnormal joint movement on the molecular biological response in intra-articular tissues during the acute phase of anterior cruciate ligament injury in a rat model.

scientific article

Endothelial dysfunction is associated with the severity of cerebral small vessel disease.

scientific article published on 12 February 2015

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

scientific article published on 4 April 2013

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

scientific article published in December 2013

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

scientific article

Fiber type-specific expression of low-density lipoprotein receptor-related protein 6 in human skeletal muscles

scientific article published on 23 January 2014

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

scientific article

Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.

scientific article

Increased blood pressure variability during the subacute phase of ischemic stroke is associated with poor functional outcomes at 3 months

scientific article published on 21 January 2020

Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease

scientific article published on 01 August 2003

Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data.

scientific article

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

scientific article

Long-Term Effect of Pravastatin on Carotid Intima-Media Complex Thickness: The J-STARS Echo Study (Japan Statin Treatment Against Recurrent Stroke).

scientific article published on 30 November 2017

Maximum Tongue Pressure is Associated with Swallowing Dysfunction in ALS Patients.

scientific article

Modifications of tau protein after cerebral ischemia and reperfusion in rats are similar to those occurring in Alzheimer's disease - Hyperphosphorylation and cleavage of 4- and 3-repeat tau.

scientific article published in January 2016

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease ⬇️

scientific article published on 01 May 1995

Molecular markers for granulovacuolar degeneration are present in rimmed vacuoles

scientific article

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

scientific article

Mutations of optineurin in amyotrophic lateral sclerosis

scientific article (publication date: 13 May 2010)

Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP

scientific article published on 01 February 2014

Optineurin and amyotrophic lateral sclerosis.

scientific article published on 26 December 2012

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

scientific article published on 17 February 2011

Optineurin suppression causes neuronal cell death via NF-κB pathway.

scientific article published on 17 June 2013

Oromandibular dystonia associated with SCA36.

scientific article published on 6 February 2013

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

scientific article published on 20 February 2008

Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements

scientific article

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

scientific article published on 06 May 2011

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

scientific article published on 2 May 2009

Sex differences in variances of multi-channel surface electromyography distribution of the vastus lateralis muscle during isometric knee extension in young adults

scientific article published on 20 February 2017

Telomere G-tail Length is a Promising Biomarker Related to White Matter Lesions and Endothelial Dysfunction in Patients With Cardiovascular Risk: A Cross-sectional Study

scientific article

Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan

scientific article published on 22 July 2016

The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.

scientific article

The Japan Statin Treatment Against Recurrent Stroke (J-STARS): A Multicenter, Randomized, Open-label, Parallel-group Study

scientific article

The Multidisciplinary Swallowing Team Approach Decreases Pneumonia Onset in Acute Stroke Patients

scientific article

The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population

scientific article

The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients

scientific article published on 2 July 2012

The identification of raft-derived tau-associated vesicles that are incorporated into immature tangles and paired helical filaments

scientific article published on 2 December 2015

The origins of rimmed vacuoles and granulovacuolar degeneration bodies are associated with the Wnt signaling pathway

scientific article published on 7 December 2016

Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients.

scientific article published on 21 August 2015

Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics

scientific article published on 20 February 2016

Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy

scientific article published on 3 July 2013

Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study.

scientific article

Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma.

scientific article published on 9 October 2006

Warfarin-Resistant Deep Vein Thrombosis during the Treatment of Acute Ischemic Stroke in Lung Adenocarcinoma.

scientific article published on 22 June 2016

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