FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3164398455> ?p ?o ?g. }

• W3164398455 endingPage "252" @default.
• W3164398455 startingPage "239" @default.
• W3164398455 abstract "Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out of these 4 conditions in the same pedigree. The calcium-dependent phospholipid-binding protein annexin A11 was recently associated to ALS in European pedigrees. Herein, we describe in detail 3 Brazilian families presenting hIBM (isolated or in combination with ALS/FTD) caused by the novel p.D40Y change in the gene encoding annexin A11 (ANXA11).We collected clinical, genetic, pathological and skeletal muscle imaging from 11 affected subjects. Neuroimaging was also obtained from 8 patients and 8 matched controls.Clinico-radiological phenotype of this novel hIBM reveals a slowly progressive predominant limb-girdle syndrome, but with frequent axial (ptosis/dropped head) and distal (medial gastrocnemius) involvement as well. Muscle pathology identified numerous rimmed vacuoles with positive annexin A11, TDP-43 and p62 inclusions, but no inflammation. Central nervous system was also involved: two patients had FTD, but diffusion tensor imaging uncovered multiple areas of cerebral white matter damage in the whole group (including the corticospinal tracts and frontal subcortical regions).These findings expand the phenotypic spectrum related to ANXA11. This gene should be considered the cause of a novel multisystem proteinopathy (MSP type 6), rather than just ALS. ANN NEUROL 2021;90:239-252." @default.
• W3164398455 created "2021-06-07" @default.
• W3164398455 creator A5002189517 @default.
• W3164398455 creator A5002888781 @default.
• W3164398455 creator A5009179371 @default.
• W3164398455 creator A5010357939 @default.
• W3164398455 creator A5021921510 @default.
• W3164398455 creator A5029818435 @default.
• W3164398455 creator A5036878710 @default.
• W3164398455 creator A5037117397 @default.
• W3164398455 creator A5041697615 @default.
• W3164398455 creator A5045402854 @default.
• W3164398455 creator A5049980471 @default.
• W3164398455 creator A5050354130 @default.
• W3164398455 creator A5062321658 @default.
• W3164398455 creator A5062511398 @default.
• W3164398455 creator A5072839591 @default.
• W3164398455 creator A5075050548 @default.
• W3164398455 creator A5075776787 @default.
• W3164398455 creator A5087464922 @default.
• W3164398455 date "2021-06-14" @default.
• W3164398455 modified "2023-10-17" @default.
• W3164398455 title "A Novel Multisystem Proteinopathy Caused by a Missense <scp><i>ANXA11</i></scp> Variant" @default.
• W3164398455 cites W1611974981 @default.
• W3164398455 cites W1681625550 @default.
• W3164398455 cites W1907485558 @default.
• W3164398455 cites W1965286266 @default.
• W3164398455 cites W1970413157 @default.
• W3164398455 cites W1983633543 @default.
• W3164398455 cites W1986199992 @default.
• W3164398455 cites W1994972002 @default.
• W3164398455 cites W2003618511 @default.
• W3164398455 cites W2004293194 @default.
• W3164398455 cites W2007803771 @default.
• W3164398455 cites W2009011307 @default.
• W3164398455 cites W2013135033 @default.
• W3164398455 cites W2013794076 @default.
• W3164398455 cites W2025047388 @default.
• W3164398455 cites W2051978340 @default.
• W3164398455 cites W2056607803 @default.
• W3164398455 cites W2059145105 @default.
• W3164398455 cites W2091469422 @default.
• W3164398455 cites W2101135654 @default.
• W3164398455 cites W2110208125 @default.
• W3164398455 cites W2112518510 @default.
• W3164398455 cites W2116807721 @default.
• W3164398455 cites W2128030851 @default.
• W3164398455 cites W2144713929 @default.
• W3164398455 cites W2150667092 @default.
• W3164398455 cites W2162121601 @default.
• W3164398455 cites W2170300421 @default.
• W3164398455 cites W2195303995 @default.
• W3164398455 cites W2369865154 @default.
• W3164398455 cites W2479612532 @default.
• W3164398455 cites W2516801760 @default.
• W3164398455 cites W2569961244 @default.
• W3164398455 cites W2575616710 @default.
• W3164398455 cites W2611848529 @default.
• W3164398455 cites W2804747983 @default.
• W3164398455 cites W2919268190 @default.
• W3164398455 cites W2992631332 @default.
• W3164398455 cites W4211041983 @default.
• W3164398455 doi "https://doi.org/10.1002/ana.26136" @default.
• W3164398455 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34048612" @default.
• W3164398455 hasPublicationYear "2021" @default.
• W3164398455 type Work @default.
• W3164398455 sameAs 3164398455 @default.
• W3164398455 citedByCount "17" @default.
• W3164398455 countsByYear W31643984552021 @default.
• W3164398455 countsByYear W31643984552022 @default.
• W3164398455 countsByYear W31643984552023 @default.
• W3164398455 crossrefType "journal-article" @default.
• W3164398455 hasAuthorship W3164398455A5002189517 @default.
• W3164398455 hasAuthorship W3164398455A5002888781 @default.
• W3164398455 hasAuthorship W3164398455A5009179371 @default.
• W3164398455 hasAuthorship W3164398455A5010357939 @default.
• W3164398455 hasAuthorship W3164398455A5021921510 @default.
• W3164398455 hasAuthorship W3164398455A5029818435 @default.
• W3164398455 hasAuthorship W3164398455A5036878710 @default.
• W3164398455 hasAuthorship W3164398455A5037117397 @default.
• W3164398455 hasAuthorship W3164398455A5041697615 @default.
• W3164398455 hasAuthorship W3164398455A5045402854 @default.
• W3164398455 hasAuthorship W3164398455A5049980471 @default.
• W3164398455 hasAuthorship W3164398455A5050354130 @default.
• W3164398455 hasAuthorship W3164398455A5062321658 @default.
• W3164398455 hasAuthorship W3164398455A5062511398 @default.
• W3164398455 hasAuthorship W3164398455A5072839591 @default.
• W3164398455 hasAuthorship W3164398455A5075050548 @default.
• W3164398455 hasAuthorship W3164398455A5075776787 @default.
• W3164398455 hasAuthorship W3164398455A5087464922 @default.
• W3164398455 hasConcept C104317684 @default.
• W3164398455 hasConcept C105702510 @default.
• W3164398455 hasConcept C127716648 @default.
• W3164398455 hasConcept C142724271 @default.
• W3164398455 hasConcept C169760540 @default.
• W3164398455 hasConcept C2778641062 @default.
• W3164398455 hasConcept C2779134260 @default.
• W3164398455 hasConcept C2779483572 @default.

• next