Patricia holds a Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She has also served as a PhD student research assistant at the Department of Microbiology & Immunology, Columbia University, New York.
Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes associated with spinal muscular atrophy (SMA) on the ... Read more
BillionToOne’s non-invasive prenatal blood test, which helps diagnose hereditary and rare diseases in fetuses, is now available in Germany, Austria, Switzerland, and the Netherlands, the company announced. The test, ... Read more
The diagnostics company BillionToOne has launched its first product for commercial and clinical use — a blood test designed to help diagnose hereditary and rare diseases in fetuses. Called UNITY, the ... Read more
Adding reldesemtiv to survival of motor neuron (SMN) restoration therapies — namely Spinraza (nusinersen) or the investigational SMN-C1 (an analogue to risdiplam) — can improve muscle function in a ... Read more
Optimal care of children with spinal muscular atrophy (SMA) requires improving competence and an adequate exchange of knowledge among healthcare professionals, as well maintaining a close dialogue with the ... Read more
The European Medicines Agency has granted a priority medicines, or PRIME, designation to oral therapy candidate risdiplam to treat spinal muscular atrophy (SMA). PRIME designation is intended to encourage the development of ... Read more
A non-invasive electrophysiology technique called motor unit number index, or MUNIX, can effectively assess the loss of motor nerve cells and muscle impairment in adults with spinal muscular atrophy ... Read more
Young children with spinal muscular atrophy show improvements in motor function after six-months of treatment with Spinraza, a German study shows.
The response to Spinraza strongly correlated with the age ... Read more
According to scientists, new research on ALS may shed light on the mechanisms underlying spinal muscular atrophy.
Two RNA binding proteins, TDP-43 and hnRNP A1, are abnormal in certain cases ... Read more
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