Gene therapy offers several advantages including prolonged and consistent GAA expression and correction of skeletal muscle as well as the critical CNS pathology.
Spinal muscular atrophy (SMA), a common autosomal recessive form of motoneuron disease in infants and young adults, is caused by mutations in the survival motoneuron 1 (I) gene. The corresponding gene product is part of...
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the deterioration of alpha motor neurons in the brainstem and spinal cord. Currently, there is no cure for SMA, which calls for an urgent need...
Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR).
To explore interleukin-17 (IL-17) and its epigenetic regulation during the progression of chronic hepatitis B virus (HBV) infection.
Regeneron Pharmaceuticals, Inc. announced that the FDA has issued Complete Response Letters (CRLs) for the Biologics License Application (BLA) for odronextamab in relapsed/refractory (R/R) follicular lymphoma (FL) and in R/R diffuse large B-cell lymphoma (DLBCL), each after two or more lines of systemic therapy.
Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency.
Spinal muscular atrophy (SMA) is caused by deletion or mutation of both copies of the SMN1 gene, which produces an essential protein known as SMN. The severity of SMA is modified by variable copy number of a second gene, SMN2...
Background: Prophylactic or 'risk-reducing' mastectomy refers to the procedure of completely removing a healthy breast in order to reduce the risk of developing breast cancer.
Objective: To study fetal nuchal translucency (NT) thickness as a possible early marker in fetuses at risk for severe spinal muscular atrophy (SMA). To investigate the significance of the survival motor neuron (SMN) 2 gene copy...