Devesh Pant
@deveshp.bsky.social
📤 14
📥 46
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Dedicated to advancing research in rare human juvenile & adult neuromuscular disorders 🦓
Thanks to all 🌐 superhost from 🇺🇸, 🇵🇱, 🇩🇪, 🇮🇹, 🇳🇱, 🇪🇸, 🇦🇺, 🇬🇧
#KIF5A
#ALS
#SPG10
add a skeleton here at some point
27 days ago
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Altered translation elongation contributes to key hallmarks of aging in the killifish brain | Science
www.science.org/doi/10.1126/...
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Altered translation elongation contributes to key hallmarks of aging in the killifish brain
Aging is a major risk factor for neurodegeneration and is characterized by diverse cellular and molecular hallmarks. To understand the origin of these hallmarks, we studied the effects of aging on the...
https://www.science.org/doi/10.1126/science.adk3079
about 2 months ago
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Antisense oligonucleotide jacifusen for FUS-ALS: open-label case series - The Lancet
www.thelancet.com/journals/lan...
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Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case series
The findings suggest the safety and possible efficacy of jacifusen for treating FUS-ALS. The efficacy of jacifusen is being further evaluated in an ongoing clinical trial.
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2825%2900513-6/fulltext
4 months ago
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🐜 KIF5A linked axonopathies
#SPG10
#ALS
add a skeleton here at some point
5 months ago
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reposted by
Devesh Pant
CareALS+
6 months ago
Different mechanisms link gain and loss of kinesin functions to axonal degeneration
https://www.biorxiv.org/content/10.1101/2024.12.31.630930v2
#neurodegeneration
#motorneurondisease
#ALS
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🐜 KIF5A-linked Dystonia
www.prd-journal.com/article/S135...
@movedisorder.bsky.social
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5 months ago
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reposted by
Devesh Pant
Springer Nature
7 months ago
This blog commemorates today's #RareDiseaseDay with a selection of articles, collections, clinical study registrations and blog posts chosen by our publishers:
http://spklr.io/633282U5e
#RareDiseaseDay
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reposted by
Devesh Pant
bioRxiv Neuroscience
7 months ago
Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice
https://www.biorxiv.org/content/10.1101/2025.02.18.638951v1
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