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Szymon W. Manka et al.
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Szymon W. Manka et al.
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Shih-Chieh Ti et al.
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Lance H. Rodan et al.
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Yongping Lu et al.
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Resham Ejaz et al.
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Nataliya Di Donato et al.
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C. A. Mutch et al.
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M. Gartz Hanson et al.
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Davide Tonduti et al.
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Ye Zhang et al.
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Renske Oegema et al.
HUMAN MOLECULAR GENETICS (2015)
A mutation uncouples the tubulin conformational and GTPase cycles, revealing allosteric control of microtubule dynamics
Elisabeth A. Geyer et al.
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Thomas D. Cushion et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
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Nadia Bahi-Buisson et al.
BRAIN (2014)
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Eline M. Hamilton et al.
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
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Shawn M. Purnell et al.
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Cas Simons et al.
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Katja Lohmann et al.
ANNALS OF NEUROLOGY (2013)
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
Joshua Hersheson et al.
ANNALS OF NEUROLOGY (2013)
Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Jerry R. Mendell et al.
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Design, Overexpression, and Purification of Polymerization-Blocked Yeast αβ-Tubulin Mutants
Vinu Johnson et al.
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The Determinants That Govern Microtubule Assembly from the Atomic Structure of GTP-Tubulin
Agata Nawrotek et al.
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Tingting Zhang et al.
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Max A. Tischfield et al.
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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Karine Poirier et al.
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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway
Guoling Tian et al.
HUMAN MOLECULAR GENETICS (2010)
Mutations in α-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
David A. Keays et al.
CELL (2007)
Class III β-tabulin isotype:: A key cytoskeletal protein at the crossroads of developmental neurobiology and tumor neuropathology
CD Katsetos et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Multilineage differentiation of rhesus monkey embryonic stem cells in three-dimensional culture systems
SS Chen et al.
STEM CELLS (2003)
β-tubulin C354 mutations that severely decrease microtubule dynamics do not prevent nuclear migration in yeast
ML Gupta et al.
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Refined structure of αβ-tubulin at 3.5 A resolution
J Löwe et al.
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