Results 151 to 160 of about 731,846 (342)
H9N2 Influenza A Virus Isolated from a Greater White-Fronted Wild Goose ( Anser albifrons ) in Alaska Has a Mutation in the PB2 Gene, Which Is Associated with Pathogenicity in Human Pandemic 2009 H1N1 [PDF]
, 2016 Andrew B. Reeves, Hon S. Ip
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Automated Generation of Cross-Domain Analogies via Evolutionary Computation
, 2012 Analogy plays an important role in creativity, and is extensively used in science as well as art. In this paper we introduce a technique for the automated generation of cross-domain analogies based on a novel evolutionary algorithm (EA).
Baydin, Atilim Gunes +2 more
core +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women [PDF]
, 2005 Bruce G. Haffty
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Production of mutations in the white-spore strain
Fungal Genetics Reports, 1971 S. S. Wang, J. M. Magill, R. L. Phillips
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu +11 more
wiley +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source