ACMG2026 in Baltimore, MD. Always a wonderful conference and my pleasure to be part of the amazing genetics community! @TheACMG #MedicalGeneticsAwareness
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Bianca Seminotti
30 posts
Bianca Seminotti
@BiancaSeminotti
B. Seminotti, scientist
Pittsburgh, PA Katılım Ekim 2013
48 Takip Edilen34 Takipçiler
Bianca Seminotti retweetledi
Bianca Seminotti, PhD is the 2026 recipient of the #ACMGFoundation Early Career Travel Award, selected for her abstract on congenital NAD deficiency due to biallelic NADSYN1 variants, to be presented at #ACMG26. Details: tinyurl.com/ECTr26 @ChildrensPgh
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Bianca Seminotti retweetledi
Bianca Seminotti retweetledi
A Tree of Life: The Pittsburgh Synagogue Shooting recounts the deadliest antisemitic attack in American history and the community that came together in its aftermath. #ATreeofLifeDoc premieres October 26 on @HBOMax
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It’s been around a month already that @GringsMateus has been working at @OroborosI. I wish you all the success my friend! Very proud! wiki.oroboros.at/index.php/Grin…
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For our 'something borrowed' we have:
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers
Seminotti, @Guilhian05 et al
academic.oup.com/hmg/article/28…
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Although US cases are down 17% in the past week, and hospitalizations are on the decline, the death toll of this 4th wave is profound. And still rising.
3,226 reported today.
Most (>3,000) of these lives would have been saved with prior vaccination.
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Em pronunciamento, Bolsonaro mente sobre ações do governo na pandemia e agora diz que 2021 será o ano da vacinação www1.folha.uol.com.br/poder/2021/03/…
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Reflexão sobre a relatividade do tempo e o tesouro que é a vida.
Renan Brites Peixoto@RenanPeixoto_
Assista o apelo da Maria Beltrão: A vida é tão rara. @beltraomaria
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Remembering Dr Stephen Irwin Goodman, MD, an innovator and pioneer in the field of inborn errors of metabolism, a mentor for numerous colleagues, and a friend for the people around him.
doi.org/10.1002/jimd.1…
Also a keen photographer:
goodmanphotos.com
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Our study shows promising beneficial effects of JP4-039 against sulfite, a major metabolite accumulated in isolated sulfite oxidase and molybdenum cofactor deficiencies.
The Journal of Inherited Metabolic Disease@JIMD_Editors
Another fantastic author @NicolasGlanzel made this #visualabstract The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats doi.org/10.1002/jimd.1…
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Bianca Seminotti retweetledi
Another fantastic author @NicolasGlanzel made this #visualabstract
The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats
doi.org/10.1002/jimd.1…
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2nd new Accepted Article in last 24 hours:
The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer and cell death signaling in striatum of rats
Glänzel et al
doi.org/10.1002/jimd.1…
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Congratulations!
The Journal of Inherited Metabolic Disease@JIMD_Editors
2nd new Accepted Article in last 24 hours: The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer and cell death signaling in striatum of rats Glänzel et al doi.org/10.1002/jimd.1…
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#VideoAbstract for the new paper about immunological involvement in CDG!
Read the paper here: bit.ly/PaperImmunoCDG
#rarenotalone #CDGResearch #CDGcommunity #CDGawareness
@CarlotaPascoal @worldCDG @FCTNOVA @UCIBIO_Research @Metab_ERN #CEDOC
bit.ly/31ezEjn
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THIS 👇 is brave and brilliant! 👊 @AcademicChatter
Anna Cifuentes-Rius@AnnaCifuR
I am considering starting to write acknowledgements like this...
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Mas não podemos esquecer que o comportamento das pessoas é o principal fator que altera essas projeções.
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Válida a discussão no TimeLine da Gaúcha, sobre projeções do pico da pandemia no RS. @kellymatos @lucianopotter
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