Expanding the Natural History of
LCC
SNORD118
bevacizumab
coats plus
natural history
ribosomopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
19 Sep 2023
19 Sep 2023
Historique:
received:
30
08
2023
revised:
11
09
2023
accepted:
11
09
2023
medline:
28
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene,
Identifiants
pubmed: 37761957
pii: genes14091817
doi: 10.3390/genes14091817
pmc: PMC10531261
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Italian Health Ministry
ID : RC 2022-2024
Références
Pediatr Neurol. 2017 Jun;71:56-59
pubmed: 28424147
J Mov Disord. 2022 May;15(2):162-166
pubmed: 34937159
Eur J Neurol. 2020 Nov;27(11):2329-2332
pubmed: 32400930
A A Pract. 2020 May;14(7):e01212
pubmed: 32371820
Nat Genet. 2012 Jan 22;44(3):338-42
pubmed: 22267198
Acta Neuropathol. 2017 Sep;134(3):351-382
pubmed: 28638987
Eye (Lond). 1988;2 ( Pt 3):297-303
pubmed: 3402627
Neurology. 2018 Dec 11;91(24):1092-1104
pubmed: 30429277
Neurology. 1996 May;46(5):1297-301
pubmed: 8628470
Am J Hum Genet. 2020 May 7;106(5):694-706
pubmed: 32359472
RNA Biol. 2022 Jan;19(1):412-418
pubmed: 35389826
J Child Neurol. 2021 Feb;36(2):133-140
pubmed: 32988269
J Clin Neurosci. 2023 Jul;113:60-61
pubmed: 37209513
Rev Neurol (Paris). 2020 Mar;176(3):170-179
pubmed: 31521395
BMC Neurol. 2022 Jan 5;22(1):10
pubmed: 34986804
Cell. 1993 Jun 18;73(6):1233-45
pubmed: 8513505
Clin Genet. 2017 Aug;92(2):180-187
pubmed: 28177126
Nat Commun. 2021 Apr 20;12(1):2344
pubmed: 33879794
Radiol Case Rep. 2023 Jan 12;18(3):1217-1220
pubmed: 36660574
Eur J Neurol. 2018 Aug;25(8):e86-e87
pubmed: 29984895
Eur J Paediatr Neurol. 2018 Sep;22(5):866-869
pubmed: 29970281
Neurol Sci. 2021 Nov;42(11):4471-4487
pubmed: 34482485
Brain Sci. 2020 Nov 18;10(11):
pubmed: 33218075
Nat Genet. 2017 Jan 31;49(2):317
pubmed: 28138155
Expert Rev Pharmacoecon Outcomes Res. 2023 Jan;23(1):43-54
pubmed: 36437684
Am J Hum Genet. 2012 Mar 9;90(3):540-9
pubmed: 22387016
Front Pharmacol. 2020 Aug 14;11:1123
pubmed: 32922285
J Neurol Sci. 2017 Jan 15;372:443
pubmed: 27793341
Front Neurol. 2022 Sep 27;13:968403
pubmed: 36237624
Front Neurol. 2021 Jun 17;12:585606
pubmed: 34220662
Neurology. 2021 Aug 11;:
pubmed: 34380746
Am J Med Genet A. 2021 Jan;185(1):15-25
pubmed: 33029936
World Neurosurg. 2019 May;125:271-272
pubmed: 30794980
Neurol Sci. 2023 Aug;44(8):2715-2729
pubmed: 37004603
Pediatr Neurol. 2020 Nov;112:53-55
pubmed: 32911264
eNeurologicalSci. 2017 Jul 21;8:28-30
pubmed: 29260032