International consensus recommendations on the diagnostic work-up for malformations of cortical development

R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease

S Chakraborti, K Natarajan, J Curiel, C Janke… - …, 2016 - Wiley Online Library
Across different cell types and tissues, microtubules are assembled from highly conserved
dimers of α‐and β‐tubulin. Despite their highly similar structures, microtubules have …

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 …

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 …

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

S Van Cauter, M Severino, R Ammendola… - Neuroradiology, 2020 - Springer
The basal ganglia and thalami are paired deep grey matter structures with extensive
metabolic activity that renders them susceptible to injury by various diseases. Most …

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 …

Polymicrogyria: a common and heterogeneous malformation of cortical development

CA Stutterd, RJ Leventer - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is
characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a …

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 …

Tubulin mutations in human neurodevelopmental disorders

C Maillard, CJ Roux, F Charbit-Henrion… - Seminars in Cell & …, 2023 - Elsevier
Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known
as tubulinopathies, are a group of recently described entities that lead to complex brain …

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 …