An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Biochemistry
Biophysics
Disease
Structural biology
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
19 Nov 2021
19 Nov 2021
Historique:
received:
10
08
2021
revised:
14
09
2021
accepted:
12
10
2021
entrez:
10
11
2021
pubmed:
11
11
2021
medline:
11
11
2021
Statut:
epublish
Résumé
Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either
Identifiants
pubmed: 34755096
doi: 10.1016/j.isci.2021.103276
pii: S2589-0042(21)01245-1
pmc: PMC8564118
doi:
Types de publication
Journal Article
Langues
eng
Pagination
103276Subventions
Organisme : NINDS NIH HHS
ID : R35 NS116824
Pays : United States
Organisme : NCATS NIH HHS
ID : TL1 TR001997
Pays : United States
Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
M.S.G. is a consultant for Maze Therapeutics, Enable Therapeutics, Glut1 Deficiency Syndrome Foundation, and Chelsea’s Hope. M.S.G. and C.V.K. are founders of Atterogen, LLC.
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