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「"Mencacci NE "[Author]」の検索結果

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Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.

Community-based genetic study of Parkinson´s disease in Estonia.

Naming Genes for Dystonia: DYT-z or Ditzy?

A Novel Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256].

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Dystonia; a roadmap is needed for future genetic studies.

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.

PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.

Author Correction: Dystonia.

Dystonia.

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.

Recessive mutations in VPS13D cause childhood-onset movement disorders.

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

Emerging Monogenic Complex Hyperkinetic Disorders.

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

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