絞り込み

17878

広告

「"Kenna KP "[Author]」の検索結果

16件中 1件~16件表示    検索結果をPubMedで見る PubMedで見る

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration.

Reconsidering the causality of TIA1 mutations in ALS.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.

A second-generation Irish genome-wide association study for amyotrophic lateral sclerosis.

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.

UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Sort by
※並べ替えは表示に時間がかかります