A study of people carrying mutations known to cause familial amyloid polyneuropathy (FAP) found that those with disease symptoms…
Margarida Maia, PhD
Margarida is a biochemist (University of Porto, Portugal) with a PhD in biomedical sciences (VIB and KULeuven, Belgium). Her main interest is science communication. She is also passionate about design and the dialogue between art and science.
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Articles by Margarida Maia, PhD
Abnormalities in capillaries, or very small blood vessels, and inflammation from increased blood clotting may contribute to nerve damage, or…
Running a genetic screening may help to diagnose familial amyloid polyneuropathy (FAP) among people with sensory-motor polyneuropathy — damage…
New 15-year data from a global study involving more than 6,000 people with ATTR amyloidosis, an umbrella term for conditions…
A little more than a year of treatment with eplontersen was found to stabilize or even improve the heart’s…
HATTR-PN
NewsBlood NfL levels may mark the onset of symptoms in FAP
Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — can separate people with symptoms…
A rare mutation in the TTR gene was identified as the cause of familial amyloid polyneuropathy (FAP) in a…
Machine learning, a form of artificial intelligence, may help doctors to identify people suspected of familial amyloid polyneuropathy (FAP)…
Tegsedi (inotersen) helped to stabilize familial amyloid polyneuropathy (FAP) symptoms in a 71-year-old man, but its use also was associated…
HATTR-PN
NewsNew FAP-causing Mutation Found in Elderly Man in Germany
An elderly man in Germany was found to carry one copy of a new mutation in the TTR gene that…