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「"Takiyama Y"[Author]」の検索結果

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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.

A treatable case of autoimmune GFAP astrocytopathy presenting chronic progressive cognitive impairment.

A novel mutation in the gene in a Japanese patient with SPG46: A case report.

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

Conjugal multiple system atrophy: Computing chance or investigating real patients?

Sympathetic outflow to skin predicts central autonomic dysfunction in multiple system atrophy.

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?

Increment of plasma glucose by exogenous glucagon is associated with present and future renal function in type 2 diabetes:a retrospective study from glucagon stimulation test.

Hypoxia-inducible factor-1α is the therapeutic target of the SGLT2 inhibitor for diabetic nephropathy.

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

Palpebral ptosis as the initial symptom of amyotrophic lateral sclerosis.

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

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene.

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

Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report.

A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment.

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

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