Pages that link to "Q34640484"
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The following pages link to Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (Q34640484):
Displaying 50 items.
- lissencephaly (Q1544416) (← links)
- Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance (Q24294967) (← links)
- Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria (Q24313546) (← links)
- Neurodegeneration and microtubule dynamics: death by a thousand cuts (Q26781649) (← links)
- Axonal transport: cargo-specific mechanisms of motility and regulation (Q26827748) (← 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)
- Reversal of axonal growth defects in an extraocular fibrosis model by engineering the kinesin-microtubule interface (Q27342394) (← links)
- Template-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolution (Q27665355) (← links)
- The cytoskeleton and neurite initiation (Q27687036) (← links)
- Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects (Q28292823) (← links)
- Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown (Q28301198) (← links)
- Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics (Q28973590) (← links)
- Establishing a novel knock-in mouse line for studying neuronal cytoplasmic dynein under normal and pathologic conditions (Q30413986) (← links)
- Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway (Q30496275) (← links)
- Defective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation (Q30497048) (← links)
- Microtubule-based localization of a synaptic calcium-signaling complex is required for left-right neuronal asymmetry in C. elegans (Q30502835) (← links)
- A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse (Q30546334) (← 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)
- Malformations of cortical development: genetic mechanisms and diagnostic approach (Q31162335) (← links)
- Genetics and biology of microcephaly and lissencephaly (Q33506556) (← links)
- Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division (Q33641779) (← links)
- Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes (Q33654193) (← links)
- Molecular analysis of ex-vivo CD133+ GBM cells revealed a common invasive and angiogenic profile but different proliferative signatures among high grade gliomas. (Q33671442) (← links)
- Epilepsy genetics—past, present, and future (Q33817292) (← links)
- TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. (Q33947860) (← links)
- Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report (Q33988618) (← links)
- Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected] (Q34181137) (← links)
- Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia (Q34326750) (← 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)
- Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. (Q35000461) (← links)
- Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy (Q35558522) (← links)
- Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. (Q35679363) (← links)
- Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis (Q35869187) (← links)
- Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (Q35906336) (← links)
- Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence (Q36234851) (← links)
- A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB. (Q36489030) (← links)
- Novel α-tubulin mutation disrupts neural development and tubulin proteostasis (Q36494917) (← links)
- New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum (Q36581137) (← links)
- Complication begets clarification in classification (Q36611413) (← links)
- Cytoskeleton in action: lissencephaly, a neuronal migration disorder (Q36672834) (← links)
- Cortical dysplasia: a possible substrate for brain tumors (Q36678551) (← links)
- Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria (Q36686747) (← links)
- Disorders of Microtubule Function in Neurons: Imaging Correlates (Q36689698) (← links)
- Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly (Q36998695) (← links)