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Nature Medicine|July 10, 2021
A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathologyLu Wang, David Sievert, Alex E Clark, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar AtaxiaReza Maroofian, Giulia Spoto, Dalila Moualek, et al.Genes|April 26, 2025
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain LesionsCamila Araújo Bernardino Garcia, Muhammad Zubair, Marcelo Volpon Santos, et al.Biochimica Et Biophysica Acta|April 2, 2016
Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvationJi Hyun Kim, Soo Mi Ki, Je-Gun Joung, et al.Brain : a Journal of Neurology|July 24, 2012
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationMaha S Zaki, Sahar N Saleem, William B Dobyns, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 13, 2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patientsMaha S Zaki, Laila Selim, Hala T El-Bassyouni, et al.Nature Medicine|May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndromeMadeline A Lancaster, Dipika J Gopal, Joon Kim, et al.Journal of Neurology|August 6, 2011
The pattern of cortical atrophy in Parkinson's disease with mild cognitive impairment according to the timing of cognitive dysfunctionJi E Lee, Kyoo H Cho, Myonghwan Kim, et al.American Journal of Human Genetics|May 13, 2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndromeMelissa A Parisi, Craig L Bennett, Melissa L Eckert, et al.American Journal of Medical Genetics. Part A|May 25, 2013
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruptionAlex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, et al.Pageof 34