420 related articles for article (PubMed ID: 24785942)
1. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguž AB; Blumkin L; ; van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; van der Knaap MS
Brain; 2014 Jul; 137(Pt 7):1921-30. PubMed ID: 24785942
[TBL] [Abstract][Full Text] [Related]
2. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S; Osaka H; Shiina M; Sasaki M; Takanashi J; Haginoya K; Wada T; Morimoto M; Ando N; Ikuta Y; Nakashima M; Tsurusaki Y; Miyake N; Ogata K; Matsumoto N; Saitsu H
Neurology; 2014 Jun; 82(24):2230-7. PubMed ID: 24850488
[TBL] [Abstract][Full Text] [Related]
3. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Simons C; Wolf NI; McNeil N; Caldovic L; Devaney JM; Takanohashi A; Crawford J; Ru K; Grimmond SM; Miller D; Tonduti D; Schmidt JL; Chudnow RS; van Coster R; Lagae L; Kisler J; Sperner J; van der Knaap MS; Schiffmann R; Taft RJ; Vanderver A
Am J Hum Genet; 2013 May; 92(5):767-73. PubMed ID: 23582646
[TBL] [Abstract][Full Text] [Related]
4. [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (
Du Y; Li C; Guo J; Guo P; Li ZY; Zhang W
Zhonghua Nei Ke Za Zhi; 2017 Jun; 56(6):433-437. PubMed ID: 28592043
[No Abstract] [Full Text] [Related]
5. 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]
6. Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.
Joyal KM; Michaud J; van der Knaap MS; Bugiani M; Venkateswaran S
J Neuropathol Exp Neurol; 2019 Jan; 78(1):3-9. PubMed ID: 30476126
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro R; Hersheson J; Ganos C; Mencacci NE; Stamelou M; Batla A; Thust SC; Bras JM; Guerreiro RJ; Hardy J; Quinn NP; Houlden H; Bhatia KP
Mov Disord; 2015 May; 30(6):828-33. PubMed ID: 25545912
[TBL] [Abstract][Full Text] [Related]
9. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
Ferreira C; Poretti A; Cohen J; Hamosh A; Naidu S
Am J Med Genet A; 2014 Jul; 164A(7):1802-7. PubMed ID: 24706558
[TBL] [Abstract][Full Text] [Related]
10. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
Shimojima K; Okumura A; Ikeno M; Nishimura A; Saito A; Saitsu H; Matsumoto N; Yamamoto T
Brain Dev; 2015 Mar; 37(3):281-5. PubMed ID: 24974158
[TBL] [Abstract][Full Text] [Related]
11. Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.
Almad AA; Garcia L; Takanohashi A; Gagne A; Yang W; Ann McGuire J; French D; Vanderver A
Stem Cell Res; 2023 Jun; 69():103083. PubMed ID: 37003180
[TBL] [Abstract][Full Text] [Related]
12. TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
Carvalho D; Santos S; Martins B; Marques FP
Brain; 2015 Feb; 138(Pt 2):e327. PubMed ID: 25168210
[No Abstract] [Full Text] [Related]
13. Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
Hamilton EM; Wolf NI; van der Knaap MS
Brain; 2015 Feb; 138(Pt 2):e328. PubMed ID: 25168211
[No Abstract] [Full Text] [Related]
14. 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]
15. Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
Gavazzi F; Charsar BA; Williams C; Shults J; Alves CA; Adang L; Vanderver A
J Child Neurol; 2021 Sep; 36(10):805-811. PubMed ID: 34514881
[TBL] [Abstract][Full Text] [Related]
16. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
Blumkin L; Halevy A; Ben-Ami-Raichman D; Dahari D; Haviv A; Sarit C; Lev D; van der Knaap MS; Lerman-Sagie T; Leshinsky-Silver E
Neurogenetics; 2014 May; 15(2):107-13. PubMed ID: 24526230
[TBL] [Abstract][Full Text] [Related]
17. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Kancheva D; Chamova T; Guergueltcheva V; Mitev V; Azmanov DN; Kalaydjieva L; Tournev I; Jordanova A
Mov Disord; 2015 May; 30(6):854-8. PubMed ID: 25772097
[TBL] [Abstract][Full Text] [Related]
18. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
van der Knaap MS; Linnankivi T; Paetau A; Feigenbaum A; Wakusawa K; Haginoya K; Köhler W; Henneke M; Dinopoulos A; Grattan-Smith P; Brockmann K; Schiffmann R; Blaser S
Neurology; 2007 Jul; 69(2):166-71. PubMed ID: 17620549
[TBL] [Abstract][Full Text] [Related]
19. A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.
Hsieh PC; Yu PS; Fan WL; Wang CC; Chao CY; Wu YR
J Mov Disord; 2024 Jan; 17(1):94-98. PubMed ID: 37867417
[TBL] [Abstract][Full Text] [Related]
20. [A boy with hypomyelination with atrophy of the basal ganglia and cerebellum].
Hattori A; Ando N; Fujimoto S; Kobayashi S; Ishikawa T; Togari H
No To Hattatsu; 2010 Jan; 42(1):42-4. PubMed ID: 23858611
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]