Results 191 to 200 of about 45,029 (376)
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano+27 more
wiley +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco+18 more
wiley +1 more source
Genetic components of crossbreeding for growth and livability traits in Gabali, Californian rabbits and their crosses under semi arid conditions [PDF]
openalex +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando+13 more
wiley +1 more source
Objective We assessed whether shared decision‐making (SDM), and patient acceptability, feasibility, and overall satisfaction with a computerized patient decision aid (PtDA) for patients with systemic lupus erythematosus (SLE), differs by PtDA setting, modality, and the viewing experience.
Jasvinder A. Singh+3 more
wiley +1 more source
Crossbreeding components for growth performance of the Egyptian Baladi Red rabbits crossed with the acclimatised New Zealand White [PDF]
openalex +1 more source
Objective This study aimed to determine if program format (in‐person, virtual, hybrid) results in differences in three‐month outcomes of pain, function, quality of life, self‐efficacy and chair stands in a hip/knee osteoarthritis management program. Methods A secondary analysis of the GLA:DTM Canada database was completed.
Jill Van Damme+7 more
wiley +1 more source