Results 61 to 70 of about 591,852 (222)
Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice
Brain Pathology, Volume 36, Issue 4, July 2026.We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
JOR SPINE, Volume 9, Issue 2, June 2026.ABSTRACT Background Cervical spondylotic myelopathy (CSM) is common in older adults. Some patients may experience incomplete neurological recovery after surgery, or even deterioration. Accurate prognosis is essential for patients, yet current tools use subjective scores and fail to detect early spinal cord microstructural changes.
Yifei Peng +6 more
wiley +1 more source
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up
Journal of Craniovertebral Junction and Spine, 2015 Cervical kyphosis in diastrophic dysplasia (DTD) is a very dangerous deformity which may lead to compression of neural structures resulting in tetraplegia or even.
Barbara Jasiewicz +3 more
doaj +1 more source
World Journal of Clinical Cases, 2019 BACKGROUND Spinal deformities in Ehlers-Danlos syndrome (EDS; type VI) are generally progressive and severe. Surgical treatment has been described for kyphoscoliosis in the thoracolumbar spine.
Huang Fang +6 more
semanticscholar +1 more source
Orthopaedic Surgery, Volume 18, Issue 6, Page 1278-1287, June 2026.Under biportal endoscopic spine surgery, one‐stage decompression combining keyhole foraminotomy and unilateral laminotomy for bilateral decompression (ULBD) for mixed‐type cervical spondylopathy can achieve favorable clinical outcomes with minimal compromise of spinal stability.
Lejian Jiang +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Global Spine Journal, 2023 Study Design: Retrospective analysis. Objective: We investigated whether complete correction of cervical sagittal malalignment is necessary during 4-level anterior cervical discectomy and fusion (ACDF) in patients with kyphosis.
Qing-Xin Song MD, PhD +7 more
doaj +1 more source
Health Science Reports, Volume 9, Issue 4, April 2026.ABSTRACT Background and Aims Thoracic kyphosis is a prevalent postural abnormality among adolescents, which can impair musculoskeletal alignment and affect neuromuscular function. Despite the known benefits of corrective exercises, limited attention has been given to the role of respiratory biofeedback.
Shahla Hasheminezhad +3 more
wiley +1 more source