The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
N Bahi-Buisson, K Poirier, F Fourniol, Y Saillour… - Brain, 2014 - academic.oup.com
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A,
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
R Oegema, TD Cushion, IG Phelps… - Human molecular …, 2015 - academic.oup.com
Mutations in alpha-and beta-tubulins are increasingly recognized as a major cause of
malformations of cortical development (MCD), typically lissencephaly, pachygyria and …
malformations of cortical development (MCD), typically lissencephaly, pachygyria and …
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
TD Cushion, WB Dobyns, JGL Mullins, N Stoodley… - Brain, 2013 - academic.oup.com
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain
development, with distinct neuropathological and neuroimaging patterns. They can be …
development, with distinct neuropathological and neuroimaging patterns. They can be …
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
MA Tischfield, GY Cederquist, ML Gupta Jr… - Current opinion in …, 2011 - Elsevier
A spectrum of neurological disorders characterized by abnormal neuronal migration,
differentiation, and axon guidance and maintenance have recently been attributed to …
differentiation, and axon guidance and maintenance have recently been attributed to …
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
C Fallet-Bianco, A Laquerrière, K Poirier… - Acta neuropathologica …, 2014 - Springer
Complex cortical malformations associated with mutations in tubulin genes are commonly
referred to as “Tubulinopathies”. To further characterize the mutation frequency and …
referred to as “Tubulinopathies”. To further characterize the mutation frequency and …
Tubulin genes and malformations of cortical development
R Romaniello, F Arrigoni, AE Fry, MT Bassi… - European journal of …, 2018 - Elsevier
A large number of genes encoding for tubulin proteins are expressed in the developing
brain. Each is subject to specific spatial and temporal expression patterns. However, most …
brain. Each is subject to specific spatial and temporal expression patterns. However, most …
Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
XH Jaglin, J Chelly - Trends in Genetics, 2009 - cell.com
The fine tuning of proliferation and neurogenesis, neuronal migration and differentiation and
connectivity underlies the proper development of the cerebral cortex. Mutations in genes …
connectivity underlies the proper development of the cerebral cortex. Mutations in genes …
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy
TD Cushion, AR Paciorkowski, DT Pilz… - The American Journal of …, 2014 - cell.com
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical
roles in neuronal function during cell proliferation, neuronal migration, and postmigrational …
roles in neuronal function during cell proliferation, neuronal migration, and postmigrational …
Mutations in α-and β-tubulin encoding genes: implications in brain malformations
R Romaniello, F Arrigoni, MT Bassi, R Borgatti - Brain and Development, 2015 - Elsevier
The tubulin gene family is mainly expressed in post-mitotic neurons during cortical
development with a specific spatial and temporal expression pattern. Members of this family …
development with a specific spatial and temporal expression pattern. Members of this family …
[HTML][HTML] Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities
The formation of the mammalian cortex requires the generation, migration, and
differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these …
differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these …