Masaki Tanaka

发表

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

Koji Abe, Sumio Sugano, Akio Ikeda, 2018, Nature Genetics.

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Keith A. Boroevich, Y. Okada, T. Tsunoda, 2020, Diabetes research and clinical practice.

UBAP 1 mutations cause juvenile-onset hereditary spastic paraplegias ( SPG 80 ) and impair UBAP 1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019 .

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

S. Hamada, S. Tsuji, H. Ishiura, 2019, Journal of Human Genetics.

Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator

T. Matsukawa, S. Morishita, H. Ishiura, 2022, Neurology and Clinical Neuroscience.

Randomized, double‐blind, placebo‐controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults

T. Matsukawa, H. Ishiura, J. Mitsui, 2021, Neurology and Clinical Neuroscience.

Successful treatment of an unresectable inflammatory myofibroblastic tumor of the frontal bone using a cyclooxygenase-2 inhibitor and methotrexate.

T. Matsukawa, S. Tsuji, J. Shibahara, 2013, Internal medicine.

First Report of Multidrug-Resistant Carbapenemase-Producing Bacteria Coharboring mcr-9 Associated with Respiratory Disease Complex in Pets: Potential of Animal-Human Transmission

Tetsuya Matsumoto, H. Khalifa, Masaki Tanaka, 2020, Antimicrobial Agents and Chemotherapy.

Familial amyloid polyneuropathy diagnosed by minor salivary gland biopsy

S. Tsuji, Takuya Sasaki, T. Morikawa, 2018 .

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

Kortaro Tanaka, S. Tsuji, G. Sobue, 2014, Neurology.

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis-

T. Matsukawa, S. Tsuji, Y. Shiio, 2020, Journal of the Neurological Sciences.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Shinichi Morishita, Yasuo Terao, Yuko Saito, 2019, Nature Genetics.

DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

I. Komuro, H. Ishiura, J. Mitsui, 2021, Neuromuscular Disorders.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

T. Matsukawa, S. Tsuji, Jun Shinmi, 2019, Nature Genetics.

Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis

A. Hida, S. Tsuji, A. Iwata, 2010, Journal of the Neurological Sciences.

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

S. Tsuji, J. Kira, S. Morishita, 2016, Annals of neurology.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

S. Tsuji, H. Onishi, S. Morishita, 2019, Parkinsonism & related disorders.

Structural Basis and Genotype–Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance

Keith A. Boroevich, T. Tsunoda, S. Tsuji, 2017, Diabetes.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

T. Matsukawa, S. Tsuji, S. Morishita, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise

Y. Shiio, A. Yamagami, J. Shimizu, 2018, Neurology and Clinical Neuroscience.

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

I. Nishino, S. Morishita, M. Yamaguchi, 2022, Journal of Neurology.

Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism

S. Tsuji, J. Goto, Y. Ichikawa, 2019, Human Genome Variation.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.

High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial

N. Sawamoto, T. Matsukawa, R. Hanajima, 2023, EClinicalMedicine.

A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis.

T. Yamauchi, H. Ishiura, Masaki Tanaka, 2023, Journal of clinical lipidology.

Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases

Kenichiro Sato, Toshihiro Hayashi, K. Murayama, 2021, Internal medicine.

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy

O. Abe, S. Aoki, T. Matsukawa, 2020, Brain communications.

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

S. Sugano, Yutaka Suzuki, A. Fujiyama, 2018, Nature Genetics.