These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

357 related articles for article (PubMed ID: 28973395)

  • 1. 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]  

  • 2.
    Sase S; Almad AA; Boecker CA; Guedes-Dias P; Li JJ; Takanohashi A; Patel A; McCaffrey T; Patel H; Sirdeshpande D; Curiel J; Shih-Hwa Liu J; Padiath Q; Holzbaur EL; Scherer SS; Vanderver A
    Elife; 2020 May; 9():. PubMed ID: 32463361
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.
    Xiao H; He H; Wu T; Ni X; Liu F; Yin F; Peng J
    Mol Neurobiol; 2022 Aug; 59(8):5056-5069. PubMed ID: 35668344
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
    Tonduti D; Aiello C; Renaldo F; Dorboz I; Saaman S; Rodriguez D; Fettah H; Elmaleh M; Biancheri R; Barresi S; Boccone L; Orcesi S; Pichiecchio A; Zangaglia R; Maurey H; Rossi A; Boespflug-Tanguy O; Bertini E
    Eur J Paediatr Neurol; 2016 Mar; 20(2):323-330. PubMed ID: 26643067
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
    Vulinovic F; Krajka V; Hausrat TJ; Seibler P; Alvarez-Fischer D; Madoev H; Park JS; Kumar KR; Sue CM; Lohmann K; Kneussel M; Klein C; Rakovic A
    Hum Mutat; 2018 Dec; 39(12):1901-1915. PubMed ID: 30079973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. H-ABC- and dystonia-causing
    Krajka V; Vulinovic F; Genova M; Tanzer K; Jijumon AS; Bodakuntla S; Tennstedt S; Mueller-Fielitz H; Meier B; Janke C; Klein C; Rakovic A
    Sci Adv; 2022 Mar; 8(10):eabj9229. PubMed ID: 35275727
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
    Duncan ID; Bugiani M; Radcliff AB; Moran JJ; Lopez-Anido C; Duong P; August BK; Wolf NI; van der Knaap MS; Svaren J
    Ann Neurol; 2017 May; 81(5):690-702. PubMed ID: 28393430
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Screening study of TUBB4A in isolated dystonia.
    Vulinovic F; Schaake S; Domingo A; Kumar KR; Defazio G; Mir P; Simonyan K; Ozelius LJ; Brüggemann N; Chung SJ; Rakovic A; Lohmann K; Klein C
    Parkinsonism Relat Disord; 2017 Aug; 41():118-120. PubMed ID: 28655586
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.