Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387096576> ?p ?o ?g. }
Showing items 1 to 59 of
59
with 100 items per page.
- W4387096576 abstract "Abstract Monomelic Amyotrophy (MMA) is a rare neurological disorder restricted to one upper limb, predominantly affecting young males with an unknown aetiopathogenesis. We report a familial case of father-son duo affected by MMA. Whole exome sequencing identified genetic variations in SLIT1, RYR3 and ARPP21 involved in axon guidance, calcium homeostasis and regulation of calmodulin signaling respectively. This is the first attempt to define genetic modifiers associated with MMA from India and advocates to extend genetic screening to a larger cohort. Deciphering the functional consequences of variations in these genes will be crucial for unravelling the pathogenesis of MMA." @default.
- W4387096576 created "2023-09-28" @default.
- W4387096576 creator A5022901262 @default.
- W4387096576 creator A5026523502 @default.
- W4387096576 creator A5037958041 @default.
- W4387096576 creator A5046510256 @default.
- W4387096576 creator A5052592355 @default.
- W4387096576 creator A5073044048 @default.
- W4387096576 creator A5080562240 @default.
- W4387096576 creator A5082785879 @default.
- W4387096576 date "2023-09-27" @default.
- W4387096576 modified "2023-09-28" @default.
- W4387096576 title "Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report" @default.
- W4387096576 doi "https://doi.org/10.4103/aian.aian_609_23" @default.
- W4387096576 hasPublicationYear "2023" @default.
- W4387096576 type Work @default.
- W4387096576 citedByCount "0" @default.
- W4387096576 crossrefType "journal-article" @default.
- W4387096576 hasAuthorship W4387096576A5022901262 @default.
- W4387096576 hasAuthorship W4387096576A5026523502 @default.
- W4387096576 hasAuthorship W4387096576A5037958041 @default.
- W4387096576 hasAuthorship W4387096576A5046510256 @default.
- W4387096576 hasAuthorship W4387096576A5052592355 @default.
- W4387096576 hasAuthorship W4387096576A5073044048 @default.
- W4387096576 hasAuthorship W4387096576A5080562240 @default.
- W4387096576 hasAuthorship W4387096576A5082785879 @default.
- W4387096576 hasBestOaLocation W43870965761 @default.
- W4387096576 hasConcept C104317684 @default.
- W4387096576 hasConcept C10590036 @default.
- W4387096576 hasConcept C16671776 @default.
- W4387096576 hasConcept C501734568 @default.
- W4387096576 hasConcept C54355233 @default.
- W4387096576 hasConcept C60644358 @default.
- W4387096576 hasConcept C71924100 @default.
- W4387096576 hasConcept C86803240 @default.
- W4387096576 hasConceptScore W4387096576C104317684 @default.
- W4387096576 hasConceptScore W4387096576C10590036 @default.
- W4387096576 hasConceptScore W4387096576C16671776 @default.
- W4387096576 hasConceptScore W4387096576C501734568 @default.
- W4387096576 hasConceptScore W4387096576C54355233 @default.
- W4387096576 hasConceptScore W4387096576C60644358 @default.
- W4387096576 hasConceptScore W4387096576C71924100 @default.
- W4387096576 hasConceptScore W4387096576C86803240 @default.
- W4387096576 hasLocation W43870965761 @default.
- W4387096576 hasOpenAccess W4387096576 @default.
- W4387096576 hasPrimaryLocation W43870965761 @default.
- W4387096576 hasRelatedWork W1839370049 @default.
- W4387096576 hasRelatedWork W2041831812 @default.
- W4387096576 hasRelatedWork W2045767269 @default.
- W4387096576 hasRelatedWork W2106929137 @default.
- W4387096576 hasRelatedWork W2108932988 @default.
- W4387096576 hasRelatedWork W2159173718 @default.
- W4387096576 hasRelatedWork W2572082510 @default.
- W4387096576 hasRelatedWork W2789615884 @default.
- W4387096576 hasRelatedWork W2942487265 @default.
- W4387096576 hasRelatedWork W2977163651 @default.
- W4387096576 isParatext "false" @default.
- W4387096576 isRetracted "false" @default.
- W4387096576 workType "article" @default.