Results 21 to 30 of about 3,643 (133)
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort [PDF]
Annals of Clinical and Translational Neurology, 2020 AbstractObjectiveTo characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering.MethodsWe conducted a retrospective, single‐center, cross‐sectional and longitudinal study on 46 LAMA2‐RD pediatric patients (37 ...
Alberto A. Zambon +6 more
openaire +4 more sources
Establishment and characterization of mouse lymph node fibrosis models
Animal Models and Experimental Medicine, EarlyView.The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu +8 more
wiley +1 more source
Muscle‐Specific Kinase Signaling and Its Therapeutic Potential
Muscle &Nerve, EarlyView.ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen +2 more
wiley +1 more source
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) and nasal polyps (NP) are chronic inflammatory conditions with unsatisfactory treatment outcomes due to frequent recurrence of refractory disease. Identifying new therapeutic targets is essential. Methods We conducted a proteome‐wide Mendelian randomization (MR) analysis by integrating genome‐wide ...
En Zhou +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo +8 more
wiley +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
MedComm – Oncology, Volume 5, Issue 3, September 2026.In tail‐vein and orthotopic osteosarcoma mouse models, 1V209‑Cho‑Lip, a TLR7 agonist liposome, effectively suppresses pulmonary metastasis and prolongs survival. Flow cytometry and single‑cell transcriptomics reveal that 1V209‑Cho‑Lip remodels both the pre‑metastatic and post‑metastatic immune microenvironments, alleviates myeloid‑mediated ...
Xinyue Zhang +5 more
wiley +1 more source
Acta Physiologica, Volume 242, Issue 9, September 2026.ABSTRACT In the central nervous system (CNS), the tissue microenvironment is continuously monitored and regulated to secure the unobstructed function of neurons and of their networks. This is a key function of the neurovascular niche (NVN), which is the interface between the cells of the nervous tissue and the cells and the content of blood vessels. It
Ilias Kazanis +4 more
wiley +1 more source
CureusMutations in the alpha-2 subunits of the laminin gene (LAMA2) cause an autosomal recessive congenital muscular dystrophy (CMD) subtype known as laminin a2-related muscular dystrophies (LAMA2-RD). LAMA2-RD can present with a wide range of phenotypes ranging from severe infantile congenital muscular dystrophy to milder adult-onset limb-girdle muscular ...
Saluja, Alvee +4 more
openaire +2 more sources
Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.Flowchart of the study design outlining target identification, validation, and subsequent functional and translational characterization. Abstract Background Skin cancer (SC) is among the most prevalent malignancies, yet causal circulating proteins and tractable therapeutic targets remain poorly defined.
Fan Shen +7 more
wiley +1 more source