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「Neurol Genet[Journal]」の検索結果

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L517W is not a pathogenic variant for spinocerebellar ataxia type 35.

Biallelic LINE insertion mutation in causing congenital myopathy.

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.

Clinical and pathologic phenotype of a large family with heterozygous mutation.

Polygenic risk scores of several subtypes of epilepsies in a founder population.

Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.

Neuraxial dysraphism in associated syndrome due to improper mesenchymal transition.

Erratum: Heritability of cervical spinal cord structure.

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA () variant.

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis.

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.

Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

Use of local genetic ancestry to assess -523' and risk for Alzheimer disease.

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Gerstmann-Sträussler-Scheinker disease ( p.D202N) presenting with atypical parkinsonism.

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

-related disease is associated with central pontine calcifications and atypical parkinsonism.

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