Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population [PDF]
, 2004 James C. Barton +4 more
openalex +1 more source
Fiber‐Specific White Matter Alterations in Parkinson's Disease Patients with
, 2023 Christina Andica +9 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven +14 more
wiley +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Nonsuppressible viremia during HIV-1 therapy meets molecular virology [PDF]
arXivHIV-1 replication can be suppressed with antiretroviral therapy (ART), but individuals who stop taking ART soon become viremic again. Some people experience extended times of detectable viremia despite optimal adherence to ART. In the issue of the JCI, White, Wu, and coauthors elucidate a source of nonsuppressible viremia (NSV) in treatment-adherent ...
arxiv
Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years [PDF]
, 2006 Kathleen E. Malone +21 more
openalex +1 more source
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
Spotting the Pattern: A Review on White Coat Color in the Domestic Horse
AnimalsTraits such as shape, size, and color often influence the economic and sentimental value of a horse. Around the world, horses are bred and prized for the colors and markings that make their unique coat patterns stand out from the crowd.
Aiden McFadden +5 more
doaj +1 more source
MMT: Mutation Testing of Java Bytecode with Model Transformation -- An Illustrative Demonstration [PDF]
arXivMutation testing is an approach to check the robustness of test suites. The program code is slightly changed by mutations to inject errors. A test suite is robust enough if it finds such errors. Tools for mutation testing usually integrate sets of mutation operators such as, for example, swapping arithmetic operators; modern tools typically work with ...
arxiv
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia [PDF]
, 2018 BACKGROUND: Mutations in the three-prime repair exonuclease 1 (TREX1) gene have been associated with neurological diseases, including Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL).
Atkinson, John P +6 more
core +1 more source