Results 151 to 160 of about 3,402 (231)

Lissencephaly - pachygyria spectrum

, 2019
Mostafa El-Feky, Ammar Haouimi
openalex   +1 more source

Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case. [PDF]

Cureus
Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.   +4 more
europepmc   +1 more source

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review. [PDF]

Neuropediatrics
Rondagh M, de Vries LS, Meeren LEV, Tromp SC, Peeters-Scholte CMPCD, Toirkens MJP, Steggerda SJ.   +6 more
europepmc   +1 more source

Heterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria

Jun Chen, Xiaoping Li, George Luo, Xiaoming Yu, Qiu‐Yan Liu, Min Peng, Mei Hou   +6 more
openalex   +1 more source

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia. [PDF]

Int J Mol Sci
Procopio R, Fortunato F, Gagliardi M, Talarico M, Sammarra I, Sarubbi MC, Malanga D, Annesi G, Gambardella A.   +8 more
europepmc   +1 more source

Tonic Spasms Preceeded by Partial Seizures in a Case of Focal Pachygyria.

, 1994
Kazumasa Otani, Katsumi Imai, Yasuyuki Futagi, Tetsuzo Tagawa, Takashi Hashimoto   +4 more
openalex   +2 more sources

Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile). [PDF]

Cureus
Ash AS, Klifto KM, Willson TD.
europepmc   +1 more source

Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia [PDF]

, 2019
Pei Ing Ngam, Syed Shahzad Hussain, Ai Peng Tan   +2 more
openalex   +1 more source

Congenital Malformation of the Brain [PDF]

, 2012
Sachchidanand Yadav, Shahina Bano, Vikas Chaudhary   +2 more
core   +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