The three diagnostic tests for identifying genetic mutations associated with SMA met new European Union regulatory ...

In SMA, mitochondria in the skeletal muscles involved in voluntary movements don’t work properly, possibly contributing to the disease’s symptoms.

The condition is caused by mutations in the survival motor neuron gene (SMN1) which causes a deficiency of a protein crucial for the survival of motor neurons in the spinal cord. “This prevents ...

You may have a blood glucose test in a doctor’s office, laboratory, or with a fingerstick meter at home. These tests can help diagnose diabetes or other health concerns and aid in adjusting your ...

Scholar Rock has submitted its anti-myostatin antibody apitegromab for FDA approval, just months after reporting that it hit its primary endpoint in phase III for spinal muscular atrophy (SMA ...

Deleção homozigótica no SMN1 foi notada em 667 pacientes (94,4 ... diagnosis of SMA-5q (regardless of age), and patients were asked to upload the molecular test to the system. The neurologists of the ...

This work provides a valuable analysis of the effect of two commonly used hyperparameters, noise amplitude and firing rate regularization, on the representations of relevant and irrelevant stimuli in ...

A blood test is a lab analysis of things that may be found in your blood. You may have blood tests to keep track of how well you are managing a condition, such as diabetes or high cholesterol. You may ...

Simultaneous measurement of surface proteins and gene expression within single cells using oligo-conjugated antibodies offers high-resolution snapshots of complex cell populations. Signal from ...