Results 1 to 10 of about 7,462 (203)

PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus

Scientific Reports, 2017
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development.
Matthew T. Dinday, Kelly M. Girskis, Sunyoung Lee, Scott C. Baraban, Robert F. Hunt   +4 more
doaj   +1 more source

Walker-Warburg syndrome: report of two cases

Arquivos de Neuro-Psiquiatria, 1999
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD).They were studied in their clinical, laboratory, and neuroradiologic features.
VASCONCELOS MARCIO M., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.   +5 more
doaj  

Lissencephaly [PDF]

, 2020
  +5 more sources

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Epilepsy & Behavior Reports
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations.
Nga Ying Eng, Duyu A. Nie
doaj   +1 more source

[Polysomnography on lissencephaly].

No to hattatsu = Brain and development, 1984
Hiura, Kyoichi, Hashimoto, Toshiaki, Fukuda, Kuniaki, Endo, Shoichi, Tayama, Masanobu, Mori, Akio, Miyao, Masuhide, Fujino, Kayo   +7 more
openaire   +2 more sources

Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders. [PDF]

Cells
Achkasova KA, Subbotin PV, Zhukov VV, Filat'eva AE, Tarabykin VS, Kondakova EV.   +5 more
europepmc   +1 more source

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging. [PDF]

Neuroradiology
AlRayahi J, AlDasuqi K, AlSubhi M, Mubarak W, Al Walid O.   +4 more
europepmc   +1 more source

Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights. [PDF]

Brain Commun
Huang R, Fu F, Zhang N, Zhou H, Mei S, Han J, Deng Q, Liu H, Zhang Y, Yu Q, Pan M, Li F, Lu J, Ma C, Guo F, Chen H, Liu L, Zhao X, Tan X, Li D, Li R, Liao C.   +21 more
europepmc   +1 more source

선천성 뇌 질환의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

Lissencephaly

, 2021
openaire   +1 more source