Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Impulsivity and inattention in hand tendon injuries: a case-control study revealing distinct profiles for work-related accidents. [PDF]
Arch Orthop Trauma SurgAğtaş Ertan E +2 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Clinical and Radiologic Outcomes of Bioinductive Collagen Implant Augmentation in Sugaya Type III Rotator Cuff Retears. [PDF]
Diagnostics (Basel)Lee D, Park J, Yoo J.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
No short-term changes in tendon structure following temporary replacement of running with low-impact exercises in service members with midportion Achilles tendinopathy: a prospective cohort study. [PDF]
BMJ Mil HealthPaantjens MA +4 more
europepmc +1 more source
Research progress on biomarkers of traumatic brain injury
Animal Models and Experimental Medicine, EarlyView.Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen +8 more
wiley +1 more source
Handheld Ultrasound for Personalized All-Soft-Tissue Quadriceps Tendon Anterior Cruciate Ligament Reconstruction. [PDF]
Video J Sports MedChu CR, Song L, He J, Roh E.
europepmc +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Effects of muscle-tendon mechanical properties and electromyographic activity patterns on individual differences in force-power relationship. [PDF]
PLoS OneKosaka T, Kubo K.
europepmc +1 more source