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「"Rouleau GA "[Author]」の検索結果

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Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Genetic and epidemiological characterization of restless legs syndrome in Québec.

Genetic, structural and functional evidence link TMEM175 to synucleinopathies.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.

and Restless Legs Syndrome: A Comprehensive Review.

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.

Genetic architecture and adaptations of Nunavik Inuit.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

Genome-wide estimates of heritability and genetic correlations in essential tremor.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

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