Results 61 to 70 of about 51,379 (259)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Italian Journal of Animal Science, 2010 Genetic and environmental effects on parturition interval (PI) and duration of lactation (DL) were evaluated in 107 Jafarabadi, 98 Mediterranean, 1027 Murrah and 624 crossbred buffalo females (n=1856), based on data from the Buffalo Genetic Improvement ...
A. de Amorim Ramos +3 more
doaj +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Environmental and dam effects on cannibalism in Wistar rat litters
Acta Scientiarum: Biological Sciences, 2015 The factors related to cannibalistic behavior of dams in a Wistar rat colony are identified and analyzed. The maternal genetic effects were tested as a random effect by the method of generalized linear models.
Graziela Tarôco +4 more
doaj +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
PLoS ONEOnce a mare experiences parturition abnormalities, the outcome between a live foal and a stillborn can change rapidly. Automated detection of mare parturition and timely human intervention is crucial to reducing risks during mare and foal parturition ...
Buyu Wang +3 more
doaj +1 more source