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Annals of Neurology|October 22, 2005
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromesXianhua Piao, Bernard S Chang, Adria Bodell, et al.Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.Nature Genetics|December 3, 2003
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortexVolney L Sheen, Vijay S Ganesh, Meral Topcu, et al.Nature Genetics|August 24, 2004
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeRussell J Ferland, Wafaa Eyaid, Randall V Collura, et al.Pediatric Neurology|May 17, 2021
Management of CLN1 Disease: International Clinical ConsensusErika F Augustine, Heather R Adams, Emily de Los Reyes, et al.Clinical Genetics|November 13, 2018
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movementsBitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, et al.Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.Cell|December 3, 2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderDora C Tărlungeanu, Elena Deliu, Christoph P Dotter, et al.Pediatric Neurology|March 25, 2017
Management Strategies for CLN2 DiseaseRuth E Williams, Heather R Adams, Martin Blohm, et al.Pageof 4