Results 161 to 170 of about 785 (222)

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report. [PDF]

J Pediatr Clin Pract
Hauck J, Gerard A, Crowe JE, Martinez CA, Machol K.   +4 more
europepmc   +1 more source

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation. [PDF]

Front Genet
Teplyshova A, Sharkov A.
europepmc   +1 more source

LPC18:0 Secreted by Exogenous Neural Stem Cells Potentiates Neurogenesis and Functional Recovery via GPR55‐Mediated Signalling in Spinal Cord Injury

Cell Proliferation, EarlyView.
LPC18:0 secreted by exogenous neural stem cells potentiates neurogenesis via the GPR55/AKT/GSK3β signalling axis, which ultimately promotes spinal cord injury recovery. ABSTRACT Spinal cord injury (SCI) is a devastating condition with limited therapeutic options. Although neural stem cell (NSC) transplantation shows regenerative potential, its efficacy
Dong Chen, Shuo Liu, Le‐Yi Tu, Ming‐Mei Yang, Cong‐Wang Xu, Yue Jiang, Hui Yang, Chen‐Xu Tai, Yan‐Ning Wang, Yuan‐Yuan Xie, Ping‐Ping Shen, Bin Wang   +11 more
wiley   +1 more source

Sodium channelopathies of skeletal muscle and brain.

Physiol Rev, 2021
Mantegazza M, Cestèle S, Catterall WA.
europepmc   +1 more source

Long‐term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis

Developmental Medicine &Child Neurology, EarlyView.
Arterial ischemic stroke (AIS) or cerebral sinovenous thrombosis (CSVT) is a rare but serious event in children and adolescents. A descriptive long‐term (median 16 years) follow‐up study of patients revealed an increased risk of neurological and psychiatric diagnoses after AIS or CSVT, highlighting significant morbidity compared with the general ...
Jeanette Soenderlyng Springer, Søren Paaske Johnsen, Charlotte Olesen, Jan Brink Valentin, Ruta Tuckuviene   +4 more
wiley   +1 more source

Increased robustness and adaptation to simultaneous temperature and elevated extracellular potassium in the pyloric rhythm of the crab, <i>Cancer borealis</i>. [PDF]

J Neurophysiol
Lee M, Marder E.
europepmc   +1 more source

Postoperative Care and Management in Pediatric Hematology‐Oncology Patients

European Journal of Haematology, EarlyView.
ABSTRACT Pediatric patients with hematologic and oncologic diseases often undergo surgical procedures as part of diagnosis and therapy. These include central venous catheter placements, tumor resections, lymph node and bone marrow biopsies, among others.
Shachi Srivatsa, Sara A. Mansfield
wiley   +1 more source

“A minimum of domination”—the overt normative orientation of Foucault's work

European Journal of Philosophy, EarlyView.
Abstract Answering the charge of ‘crypto‐normativity’ that has long overshadowed Michel Foucault's work, I argue that this work is animated by an overt normative orientation to keep domination to a minimum. This orientation operates both at the level of content and form.
Fabian Freyenhagen
wiley   +1 more source