Results 211 to 220 of about 931,040 (332)

Flexibility of the genetic code with respect to DNA structure [PDF]

open access: bronze, 2001
Pierre-François Baisnée   +3 more
openalex   +1 more source

Punctuation in the Genetic Code

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 1966
Dean L. Engelhardt   +2 more
openaire   +3 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy

open access: gold, 2000
Jeanette Erdmann   +4 more
openalex   +1 more source

Order of amino acid recruitment into the genetic code resolved by last universal common ancestor's protein domains. [PDF]

open access: yesProc Natl Acad Sci U S A
Wehbi S   +6 more
europepmc   +1 more source

Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade   +8 more
wiley   +1 more source

Genview and Gencode : a pair of programs to test theories of genetic code evolution [PDF]

open access: bronze, 2001
Terres A. Ronneberg   +2 more
openalex   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

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