162 related articles for article (PubMed ID: 36950148)
1. 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]
2. 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]
3. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons C; Dyment D; Bent SJ; Crawford J; D'Hooghe M; Kohlschütter A; Venkateswaran S; Helman G; Poll-The BT; Makowski CC; Ito Y; Kernohan K; Hartley T; Waisfisz Q; Taft RJ; ; van der Knaap MS; Wolf NI
Brain; 2017 Dec; 140(12):3105-3111. PubMed ID: 29186371
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
Xing S; Zheng X; Yan H; Mo Y; Duan R; Chen Z; Wang K; Gao K; Chen T; Zhao S; Wang J; Chen L
Sci China Life Sci; 2023 Aug; 66(8):1858-1868. PubMed ID: 37129766
[TBL] [Abstract][Full Text] [Related]
7. Severe Epilepsy and Movement Disorder May Be Early Symptoms of
Solazzi R; Moscatelli M; Sebastiano DR; Canafoglia L; Pezzoli L; Iascone M; Granata T
Neurol Genet; 2022 Oct; 8(5):e200022. PubMed ID: 36046422
[TBL] [Abstract][Full Text] [Related]
8. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Dorboz I; Aiello C; Simons C; Stone RT; Niceta M; Elmaleh M; Abuawad M; Doummar D; Bruselles A; Wolf NI; Travaglini L; Boespflug-Tanguy O; Tartaglia M; Vanderver A; Rodriguez D; Bertini E
Brain; 2017 Oct; 140(10):2550-2556. PubMed ID: 28969374
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
Komachali SR; Sheikholeslami M; Salehi M
Genomics Inform; 2022 Jun; 20(2):e24. PubMed ID: 35794704
[TBL] [Abstract][Full Text] [Related]
10. A role of the frontotemporal lobar degeneration risk factor TMEM106B in myelination.
Feng T; Sheng RR; Solé-Domènech S; Ullah M; Zhou X; Mendoza CS; Enriquez LCM; Katz II; Paushter DH; Sullivan PM; Wu X; Maxfield FR; Hu F
Brain; 2020 Jul; 143(7):2255-2271. PubMed ID: 32572497
[TBL] [Abstract][Full Text] [Related]
11. A
Siori D; Vlachakis D; Makrythanasis P; Traeger-Synodinos J; Veltra D; Kampouraki A; Chrousos GP
Genes (Basel); 2024 Apr; 15(5):. PubMed ID: 38790154
[TBL] [Abstract][Full Text] [Related]
12. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V; Alsagob M; Kloth K; Chirita-Emandi A; Vandrovcova J; Maroofian R; Davagnanam I; Bakhtiari S; AlSayed MD; Rahbeeni Z; AlZaidan H; Malintan NT; Johannsen J; Efthymiou S; Ghayoor Karimiani E; Mankad K; Al-Shahrani SA; Beiraghi Toosi M; AlShammari M; Groppa S; Haridy NA; AlQuait L; Qari A; Huma R; Salih MA; Almass R; Almutairi FB; Hamad MH; Alorainy IA; Ramzan K; Imtiaz F; Puiu M; Kruer MC; Bierhals T; Wood NW; Colak D; Houlden H; Kaya N
Eur J Neurol; 2020 Feb; 27(2):334-342. PubMed ID: 31509304
[TBL] [Abstract][Full Text] [Related]
13. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Purnell SM; Bleyl SB; Bonkowsky JL
Pediatr Neurol; 2014 Jun; 50(6):608-11. PubMed ID: 24742798
[TBL] [Abstract][Full Text] [Related]
14. Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
Shimojima K; Shimada S; Tamasaki A; Akaboshi S; Komoike Y; Saito A; Furukawa T; Yamamoto T
Brain Dev; 2014 Apr; 36(4):315-21. PubMed ID: 23694757
[TBL] [Abstract][Full Text] [Related]
15. Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in
Naseer MI; Abdulkareem AA; Pushparaj PN; Saharti S; Muthaffar OY
Front Pediatr; 2022; 10():862722. PubMed ID: 35685919
[TBL] [Abstract][Full Text] [Related]
16. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.
Shahrour MA; Ashhab M; Edvardson S; Gur M; Abu-Libdeh B; Elpeleg O
Neurogenetics; 2017 Jul; 18(3):135-139. PubMed ID: 28493104
[TBL] [Abstract][Full Text] [Related]
17. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G; Zerem A; Almad A; Hacker JL; Woidill S; Sase S; LeFevre AN; Ekstein J; Johansson MM; Stutterd CA; Taft RJ; Simons C; Grinspan JB; Pizzino A; Schmidt JL; Harding B; Hirsch Y; Viaene AN; Fattal-Valevski A; Vanderver A
Pediatr Neurol; 2021 Aug; 121():11-19. PubMed ID: 34111619
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
Tewari VV; Mehta R; Sreedhar CM; Tewari K; Mohammad A; Gupta N; Gulati S; Kabra M
BMC Pediatr; 2018 Apr; 18(1):126. PubMed ID: 29618326
[TBL] [Abstract][Full Text] [Related]
20. TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A; Pierson TM; Guo Y; Helman G; Fortini S; Guerrero K; Saitta S; Murphy JL; Padiath Q; Xie Y; Hakonarson H; Xu X; Funari T; Fox M; Taft RJ; van der Knaap MS; Bernard G; Schiffmann R; Simons C; Vanderver A
Neurology; 2014 Sep; 83(10):898-902. PubMed ID: 25085639
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
