Results 111 to 120 of about 7,462 (203)

X-linked lissencephaly in an Indian family

, 2003
Neuronal migration disorders are an important differential diagnosis to be considered in the evaluation of intractable epilepsy. Though the underlying causative factors which govern their development are many and varied, genetic factors have been found ...
M. Tripathi, S. Panda, P. Sharma, S. Jain   +3 more
core   +1 more source

An in vitro model of lissencephaly: Expanding the role of DCX during neurogenesis

, 2018
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe ...
Pronk, R J, Anderli, B-M, Jahan, Salma, Day, K, Moslem, M, Lam, M, Falk, R, Linker, S B, Shahsavani, M, Schuster, J   +9 more
core  

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]

Biomedicines
Hu J, Xu X, Jiang P, Huang R, Yuan J, Lu L, Han J.   +6 more
europepmc   +1 more source

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic <i>CDK5RAP2</i> and <i>CIT</i> variants. [PDF]

Mol Genet Metab Rep
Albokhari D, Almarwani R, Khadawardi E, Saleemi M, Abdulaziz N, Matar K, Zubier M.   +6 more
europepmc   +1 more source

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report. [PDF]

Cureus
Watanabe H, Ibi K, Yoneda K, Kakiuchi S.
europepmc   +1 more source

Lissencephaly

, 2012
  +4 more sources

Aurea Mediocritas: mTOR Abides the Golden Mean. [PDF]

Epilepsy Curr
Riley VA, Danzer SC.
europepmc   +1 more source

Malformations of cortical development on fetal MRI. [PDF]

J Clin Imaging Sci
Ganapathy SS, Hunter K, Janitz E, Sreedher G.   +3 more
europepmc   +1 more source

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids. [PDF]

Nat Commun
Zillich L, Gasparotto M, Rossetti AC, Fechtner O, Maillard C, Hoffrichter A, Zillich E, Jabali A, Marsoner F, Artioli A, Wilkens R, Schroeter CB, Hentschel A, Witt SH, Melzer N, Meuth SG, Ruck T, Koch P, Roos A, Bahi-Buisson N, Francis F, Ladewig J.   +21 more
europepmc   +1 more source

[Lissencephaly].

Gaceta medica de Mexico, 2006
Verónica, Mota, Oscar F, Valdivieso, Laura, Quiroz, José Luis, Criales   +3 more
openaire   +1 more source