Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
about
Proliferation control in neural stem and progenitor cellsMolecular mechanisms of epilepsyA clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisMammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Autism spectrum disorder and epilepsy: Disorders with a shared biology.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.mTOR inhibition in epilepsy: rationale and clinical perspectives.Genetic animal models of malformations of cortical development and epilepsy.Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB.The genetics of the epilepsies.PTEN loss increases the connectivity of fast synaptic motifs and functional connectivity in a developing hippocampal network.Neuroinflammation in epileptogenesis: Insights and translational perspectives from new models of epilepsy.Evolution of Brain Active Gene Promoters in Human Lineage Towards the Increased Plasticity of Gene Regulation.NT-3 promotes proprioceptive axon regeneration when combined with activation of the mTor intrinsic growth pathway but not with reduction of myelin extrinsic inhibitors.Hyperactivity and depression-like traits in Bax KO mice.Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural Progenitor Pool.You Have Brains in Your Head, You Have Organoids in Your Dish, You Can Steer Yourself in any Direction You Wish.Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.Recent Advances in Neonatal Seizures.A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.Hemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy.
P2860
Q26784363-F798F177-BE90-43C7-96BE-A48FCAD72A38Q28087505-59867159-7FC0-4106-9AEC-94FA98AEA88CQ33879555-36111DED-52C2-4A6A-B0DC-D87EBA2A4DC0Q35693908-CF14EE4B-E944-4942-83CC-4AF065E9732AQ35753306-1D96EE9F-4E8D-4E34-BE5C-D1A53E2A3E81Q35762766-9224CBFC-7657-4DAE-828E-386A6D3A7946Q36354683-91BFCD42-33CF-44DD-9FEA-C2B20ABED72CQ36585045-BB0C58AD-5ABB-4B14-BB94-BA58F573206AQ37396889-6BDFD409-FCFD-4765-95BB-A2B09D90554AQ38336887-878966C5-13B2-4C1D-B4AA-8E48F59751B1Q38441307-F5196589-5359-41D0-A29D-2D59BBBFBE6DQ38456688-6550AE73-DC50-4573-AEC2-21A23E39FA6CQ38501842-8627A2A9-F0BD-4DB2-B7CE-7369FACEB0CFQ38656584-4F504F5F-CB8F-4D8E-915B-2988D2E31340Q38694553-369B82E2-FF6B-4953-884A-638F74C751F3Q38944749-6E07C667-4A5B-4271-A8A8-6454EF0F12DEQ41648580-7BF1455E-0382-461F-8382-7D5C67BB435EQ45019013-AAA01D2C-F731-4A6A-9D0D-2CD28427F401Q46337250-536E5370-F6CC-49DD-BA15-F12F48B75080Q46477736-628BA27E-12DC-44BA-86DC-4BE086B484B6Q47127020-21759711-7398-4476-9F8C-D827726975A6Q47894572-254F106E-1629-438E-9DDF-A775E19FF549Q50901686-EF258DE9-B7CD-4AC0-BCD5-E14C6D350A39Q52670964-B8E45252-DDFB-443C-9EB7-B9E9D670E76DQ55041281-2C497FDD-2E7B-4430-95A9-3B3177C84A67
P2860
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
@en
type
label
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
@en
prefLabel
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
@en
P2860
P356
P1476
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
@en
P2093
Annapurna Poduri
Ghayda M Mirzaa
P2860
P304
P356
10.1002/AJMG.C.31401
P577
2014-05-28T00:00:00Z