Pages that link to "Q33947860"
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The following pages link to TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. (Q33947860):
Displaying 50 items.
- A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation (Q24310126) (← links)
- Cerebral cortex expansion and folding: what have we learned? (Q26750873) (← links)
- The cytoskeletal arrangements necessary to neurogenesis (Q26772147) (← links)
- Genes and brain malformations associated with abnormal neuron positioning (Q26779045) (← links)
- A developmental and genetic classification for malformations of cortical development: update 2012 (Q26858999) (← links)
- Extracellular and Intracellular Signaling for Neuronal Polarity (Q27005889) (← links)
- In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations (Q27300744) (← links)
- Structural basis of tubulin tyrosination by tubulin tyrosine ligase (Q27676036) (← links)
- Genetic Basis of Brain Malformations (Q28076998) (← links)
- Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability (Q29143437) (← links)
- Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities (Q30457417) (← links)
- Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations (Q30576703) (← links)
- TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis (Q30670235) (← links)
- Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases. (Q30726699) (← links)
- The genetics of lissencephaly (Q30826834) (← links)
- Differential regulation of polarized synaptic vesicle trafficking and synapse stability in neural circuit rewiring in Caenorhabditis elegans (Q33880840) (← links)
- Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report (Q33988618) (← links)
- Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly (Q34462730) (← links)
- Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. (Q34479643) (← links)
- Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly (Q34566623) (← links)
- Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs (Q34929905) (← links)
- Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. (Q35000461) (← links)
- Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. (Q35049421) (← links)
- What disorders of cortical development tell us about the cortex: one plus one does not always make two (Q35115582) (← links)
- Malformations of cortical development: clinical features and genetic causes (Q35188898) (← links)
- Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. (Q35679363) (← links)
- Tubulin-tyrosine Ligase (TTL)-mediated Increase in Tyrosinated α-Tubulin in Injured Axons Is Required for Retrograde Injury Signaling and Axon Regeneration (Q35860868) (← links)
- Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (Q35906336) (← links)
- Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations (Q36170406) (← links)
- A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. (Q36611419) (← links)
- Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria (Q36686747) (← links)
- Disorders of Microtubule Function in Neurons: Imaging Correlates (Q36689698) (← links)
- Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors (Q37257945) (← links)
- Deciphering the Role of Emx1 in Neurogenesis: A Neuroproteomics Approach (Q37342527) (← links)
- De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (Q37693218) (← links)
- Genetic regulation of human brain development: lessons from Mendelian diseases (Q37808270) (← links)
- Developmental disorders of the midbrain and hindbrain (Q37992627) (← links)
- Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders (Q38089667) (← links)
- Neuronal vesicular trafficking and release in age-related cognitive impairment. (Q38210236) (← links)
- The wide spectrum of tubulinopathies: what are the key features for the diagnosis? (Q38214584) (← links)
- Microtubule dynamics in axon guidance (Q38223509) (← links)
- Robust gene expression changes in the ganglia following subclinical reactivation in rhesus macaques infected with simian varicella virus. (Q38435706) (← links)
- Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration (Q38688853) (← links)
- DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. (Q40117499) (← links)
- A quantitative transcriptome reference map of the normal human hippocampus (Q40799938) (← links)
- Recurrent KIF2A mutations are responsible for classic lissencephaly (Q41922143) (← links)
- A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance (Q41933854) (← links)
- LIS1 duplication: expanding the phenotype (Q41934530) (← links)
- Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. (Q42519980) (← links)
- Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. (Q44253129) (← links)