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.
3. 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]
4. 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]
5. 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]
6. Pathogenic variants in TUBB4A are not found in primary dystonia. Vemula SR; Xiao J; Bastian RW; Momčilović D; Blitzer A; LeDoux MS Neurology; 2014 Apr; 82(14):1227-30. PubMed ID: 24598712 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
11. Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India. Garg D; Holla VV; Ganguly J; Rajan R; Saini A; Agarwal A; Radhakrishnan DM; Basu P; Mondal B; Dhar D; Kamble N; Yadav R; Muthusamy B; Kumar H; Srivastava AK; Pal PK Parkinsonism Relat Disord; 2024 Jul; 124():107012. PubMed ID: 38762926 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. Bally JF; Camargos S; Oliveira Dos Santos C; Kern DS; Lee T; Pereira da Silva-Junior F; Puga RD; Cardoso F; Barbosa ER; Yadav R; Ozelius LJ; de Carvalho Aguiar P; Lang AE Neurology; 2021 Apr; 96(14):e1887-e1897. PubMed ID: 32943487 [TBL] [Abstract][Full Text] [Related]
15. A novel Lu Y; Ondo Y; Shimojima K; Osaka H; Yamamoto T Hum Genome Var; 2017; 4():17035. PubMed ID: 28791129 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. [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]
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. 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] [Next] [New Search]