Identification and Characterization of Novel Founder Mutations in
Charcot–Marie–Tooth neuropathy type 4D
NDRG1
demyelinating neuropathy
founder mutation
non-Roma ethnicity
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
21 Aug 2024
21 Aug 2024
Historique:
received:
18
07
2024
revised:
14
08
2024
accepted:
16
08
2024
medline:
1
9
2024
pubmed:
31
8
2024
entrez:
29
8
2024
Statut:
epublish
Résumé
Charcot-Marie-Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in the N-Myc Downstream Regulated 1 gene (
Identifiants
pubmed: 39201732
pii: ijms25169047
doi: 10.3390/ijms25169047
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
Intracellular Signaling Peptides and Proteins
0
N-myc downstream-regulated gene 1 protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : University of Antwerp
ID : to A.J.
Organisme : Research Foundation - Flanders
ID : research grants G048220N and G0A2122N to A.J.
Organisme : Research Foundation - Flanders
ID : doctoral fellowship 1128517N to D.A.
Organisme : Research Foundation - Flanders
ID : postdoctoral fellowship 12AIV24N to A.C. and 12R3215N A.E.C.
Organisme : Belgian Association Against Neuromuscular Diseases (ABMM)
ID : grants to A.J. and A.C.
Organisme : American Muscular Dystrophy Association
ID : grant 175816 to A.J.
Organisme : French Muscular Dystrophy Association
ID : 16179 and 23708 to A.J.; 24894 to A.C.
Organisme : European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement
ID : no. 101108071 to A.C.
Organisme : Bulgarian National Recovery and Resilience Plan, financed by the National Science Fund of Bulgaria (BNSF)
ID : BG-RRP-2.004-0004-C01 to A.J. and I.T.