Advancements in Animal Breeding: From Mendelian Genetics to Machine Learning. [PDF]
Panigrahi M +7 more
europepmc +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Editorial: Genetics and justice: the implications of large-scale genome sequencing initiatives in the global south. [PDF]
Naslavsky MS +2 more
europepmc +1 more source
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer. [PDF]
Di Giosaffatte N +38 more
europepmc +1 more source
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox +3 more
wiley +1 more source
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]
Hao C +8 more
europepmc +1 more source
Objective Imaging evidence of active sacroiliitis is important for diagnosis, classification, and monitoring of axial spondyloarthritis (axSpA). However, there is no consistent guidance on whether patients should temporarily stop nonsteroidal anti‐inflammatory drugs (NSAIDs) before magnetic resonance imaging (MRI).
Gareth T. Jones +10 more
wiley +1 more source
Genetic evolution of parental populations and construction of core germplasm populations in qinghai spruce seed orchard based on SLAF-seq technology. [PDF]
Zhao H +7 more
europepmc +1 more source
Time Trends and Predictors of Gout Remission Over 6 Years
Objective This study aims to describe the trends in remission rates over 6 years of follow‐up among people with gout taking urate‐lowering therapy (ULT) and to identify variables that predict remission. Methods A post hoc analysis was conducted using data from the Cardiovascular Safety of Febuxostat or Allopurinol in Patients with Gout (CARES) trial ...
Adwoa Dansoa Tabi‐Amponsah +5 more
wiley +1 more source

