237 related articles for article (PubMed ID: 37755363)
1. Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T; Yamauchi J
Neurol Int; 2023 Sep; 15(3):1155-1173. PubMed ID: 37755363
[TBL] [Abstract][Full Text] [Related]
2. A recurrent de novo
Cömert C; Brick L; Ang D; Palmfeldt J; Meaney BF; Kozenko M; Georgopoulos C; Fernandez-Guerra P; Bross P
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532876
[TBL] [Abstract][Full Text] [Related]
3. Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D; Magri S; Benzoni C; Farina L; Maccagnano C; Sarto E; Moscatelli M; Baratta S; Ciano C; Piacentini SHMJ; Draghi L; Mauro E; Pareyson D; Gellera C; Taroni F; Salsano E
Eur J Neurol; 2021 Mar; 28(3):934-944. PubMed ID: 33190326
[TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H; Ji H; Kubisiak T; Wu Y; Xiao J; Gu Q; Yang Y; Xie H; Ji T; Gao K; Li D; Xiong H; Shi Z; Li M; Zhang Y; Duan R; Bao X; Jiang Y; Burmeister M; Wang J
J Hum Genet; 2021 Aug; 66(8):761-768. PubMed ID: 33597727
[TBL] [Abstract][Full Text] [Related]
5. Functional Study of
Yan H; Yang S; Hou Y; Ali S; Escobar A; Gao K; Duan R; Kubisiak T; Wang J; Zhang Y; Xiao J; Jiang Y; Zhang T; Wu Y; Burmeister M; Wang Q; Cuajungco MP; Wang J
Cells; 2022 Apr; 11(8):. PubMed ID: 35455965
[TBL] [Abstract][Full Text] [Related]
6. A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review.
Singh S; Mishra A; Murthy C; Inban P; Abdefatah Ali M; Yadav AS; Intsiful TA; O Omar ZT; Lakhra S; Khan DA
Cureus; 2023 Mar; 15(3):e36471. PubMed ID: 37090362
[TBL] [Abstract][Full Text] [Related]
7. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.
Ikemoto S; Hamano SI; Kikuchi K; Koichihara R; Hirata Y; Matsuura R; Hiraide T; Nakashima M; Inoue K; Kurosawa K; Saitsu H
Brain Dev; 2020 Sep; 42(8):603-606. PubMed ID: 32595021
[TBL] [Abstract][Full Text] [Related]
8. Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
Charzewska A; Wierzba J; Iżycka-Świeszewska E; Bekiesińska-Figatowska M; Jurek M; Gintowt A; Kłosowska A; Bal J; Hoffman-Zacharska D
Clin Genet; 2016 Oct; 90(4):293-304. PubMed ID: 27234264
[TBL] [Abstract][Full Text] [Related]
9. POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Coulombe B; Derksen A; La Piana R; Brais B; Gauthier MS; Bernard G
Fac Rev; 2021; 10():12. PubMed ID: 33659930
[TBL] [Abstract][Full Text] [Related]
10. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
do Rosario MC; Bey GR; Nmezi B; Liu F; Oranburg T; Cohen ASA; Coffman KA; Brown MR; Kiselyov K; Waisfisz Q; Flohil MT; Siddiqui S; Rosenfeld JA; Iglesias A; Girisha KM; Wolf NI; Padiath QS; Shukla A
Brain; 2022 Dec; 145(12):4202-4209. PubMed ID: 35953447
[TBL] [Abstract][Full Text] [Related]
11. Solving the hypomyelination conundrum - Imaging perspectives.
Malik P; Muthusamy K; Mankad K; Shroff M; Sudhakar S
Eur J Paediatr Neurol; 2020 Jul; 27():9-24. PubMed ID: 32418752
[TBL] [Abstract][Full Text] [Related]
12. Inborn errors of brain myelin formation.
Boespflug-Tanguy O
Handb Clin Neurol; 2013; 113():1581-92. PubMed ID: 23622380
[TBL] [Abstract][Full Text] [Related]
13. DEGS1 -related leukodystrophy: a clinical report and review of literature.
Wong MST; Thomas T; Lim JY; Kam S; Teo JX; Ching J; Goh CYJ; Jamuar SS; Lim WK; Koh AL
Clin Dysmorphol; 2023 Jul; 32(3):106-111. PubMed ID: 37195341
[TBL] [Abstract][Full Text] [Related]
14. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J; Rodríguez Bey G; Takanohashi A; Bugiani M; Fu X; Wolf NI; Nmezi B; Schiffmann R; Bugaighis M; Pierson T; Helman G; Simons C; van der Knaap MS; Liu J; Padiath Q; Vanderver A
Hum Mol Genet; 2017 Nov; 26(22):4506-4518. PubMed ID: 28973395
[TBL] [Abstract][Full Text] [Related]
15. Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.
Georgiou E; Sidiropoulou K; Richter J; Papaneophytou C; Sargiannidou I; Kagiava A; von Jonquieres G; Christodoulou C; Klugmann M; Kleopa KA
Brain; 2017 Mar; 140(3):599-616. PubMed ID: 28100454
[TBL] [Abstract][Full Text] [Related]
16. Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics.
Miyamoto Y; Eguchi T; Kawahara K; Hasegawa N; Nakamura K; Funakoshi-Tago M; Tanoue A; Tamura H; Yamauchi J
Biochem Biophys Res Commun; 2015 Jul; 462(3):275-81. PubMed ID: 25957474
[TBL] [Abstract][Full Text] [Related]
17. POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.
Perrier S; Michell-Robinson MA; Bernard G
Front Cell Neurosci; 2020; 14():631802. PubMed ID: 33633543
[TBL] [Abstract][Full Text] [Related]
18. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Mendes MI; Gutierrez Salazar M; Guerrero K; Thiffault I; Salomons GS; Gauquelin L; Tran LT; Forget D; Gauthier MS; Waisfisz Q; Smith DEC; Simons C; van der Knaap MS; Marquardt I; Lemes A; Mierzewska H; Weschke B; Koehler W; Coulombe B; Wolf NI; Bernard G
Am J Hum Genet; 2018 Apr; 102(4):676-684. PubMed ID: 29576217
[TBL] [Abstract][Full Text] [Related]
19. Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy.
Alotaibi L; Alqasmi A
Glob Med Genet; 2023 Jan; 10(1):38-41. PubMed ID: 36950148
[TBL] [Abstract][Full Text] [Related]
20. RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S; Vahidnezhad H; Tabatabaiefar MA; Khorram Khorshid HR; Esmaeilzadeh E
Mol Genet Genomic Med; 2024 Apr; 12(4):e2435. PubMed ID: 38618971
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]