This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C. +2 more
core
Relationship Between NDEL1 Anomaly, Lissencephaly, and Developmental Delay: A Case Report [PDF]
Chun-yu CHEN +5 more
openalex +1 more source
ZicDeficiency in the Cortical Marginal Zone and Meninges Results in Cortical Lamination Defects Resembling Those in Type II Lissencephaly [PDF]
Takashi Inoue +3 more
openalex +1 more source
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly [PDF]
Nataliya Di Donato +20 more
openalex +1 more source
Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]
Ackroyd +51 more
core +2 more sources
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly [PDF]
Hebah Qashqari +8 more
openalex +1 more source
Potential protective role of reactive astrocytes in the periventricular parenchyma in congenital hydrocephalus [PDF]
Background Cerebrospinal fluid accumulation in hydrocephalus produces an elevation of intraventricular pressure with pathological consequences on the periventricular brain parenchyma including ischemia, oedema, oxidative stress, and accumulation of ...
Alonso-Carrion, Francisco Jose +9 more
core
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 [PDF]
Daniella Magen +11 more
openalex +1 more source
The Structure of the Coiled-Coil Domain of Ndel1 and the Basis of Its Interaction with Lis1, the Causal Protein of Miller-Dieker Lissencephaly [PDF]
Urszula Derewenda +10 more
openalex +1 more source

