Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Autor: Marianne L. T. van der Sterre, Rachel Schot, Peter J. van der Spek, Daphne Heijsman, Leontine van Unen, Gert-Jan Kremers, Martyna M. Grochowska, Grazia M.S. Mancini, Laura Vandervore, Roy Masius, Gerben J. Schaaf, Martina Wilke, Nadia Bahi-Buisson, Anna Grandone, Renske Oegema, Anna Jansen, Patrick Rump, Arie van Haeringen, Tugba Kalayci, Frans W. Verheijen, Katrien Stouffs, Peter Elfferich, Els A. J. Peeters, Esmee Kasteleijn, Anton J. van Essen, Umut Altunoglu, Alexander Gheldof, Dick H. W. Dekkers, Johan A. Slotman, Jeroen Demmers, Raymond A. Poot, WB Dobyns

Publikováno v: Brain
Brain, 142(4), 867-884. Oxford University Press
Brain, 142, 867-884. Oxford University Press
Brain, 142, 867-884. OXFORD UNIV PRESS

See Uzquiano and Francis (doi:10.1093/brain/awz048) for a scientific commentary on this article. Mutations in RTTN, which encodes Rotatin, give rise to various brain malformations. Vandervore et al. reveal mitotic failure, aneuploidy, apoptosis and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de402fcf18fb98f473185220a99962dc
http://europepmc.org/articles/PMC6439326

Subcortical heterotopic gray matter brain malformations : Classification study of 107 individuals

Autor: Renske Oegema, Grazia M.S. Mancini, A. James Barkovich, WB Dobyns, Renzo Guerrini

Publikováno v: Neurology, vol 93, iss 14
Neurology, 93(14), e1360. Lippincott Williams and Wilkins

ObjectiveTo better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected individuals.MethodsSUBH is defined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45caec094428da6e93031e30f75c61ab
https://doi.org/10.1212/wnl.0000000000008200

A classification scheme for malformations of cortical development

Autor: Ruben Kuzniecky, WB Dobyns, Aj. Barkovich, Graeme D. Jackson, Philippe Evrard, LE Becker

Publikováno v: Neuropediatrics. 27(2)

Malformations of the cerebral cortex are being recognized more frequently as a cause of epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a standard nomenclature and classification system of these malformation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6d4ff1089296a330705434425362d0
https://pubmed.ncbi.nlm.nih.gov/8737819

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Autor: Akula SK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts., Chen AY; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Division of Rheumatology, Hospital for Special Surgery, New York, New York., Neil JE; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Shao DD; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Mo A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Hylton NK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts., DiTroia S; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ganesh VS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Smith RS; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., O'Kane K; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Yeh RC; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Marciano JH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Kirkham S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Kenny CJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Song JHT; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Al Saffar M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Department of Genetics and Genomics, United Arab Emirates University, United Arab Emirates., Millan F; GeneDx, Gaithersburg, Maryland., Harris DJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Murphy AV; Division of Medical Genetics, Our Lady of the Lake Health System, Baton Rouge, Louisiana., Klemp KC; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri., Braddock SR; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri., Brand H; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Wong I; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Talkowski ME; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Hill RS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Mochida GH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts., Doan RN; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts., Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California, San Francisco, San Francisco., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts., Amrom D; Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Queen Fabiola Children's University Hospital, Brussels, Belgium.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg., Andermann E; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg.; Epilepsy Research Group, Montreal Neurological Hospital and Institute, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Publikováno v: JAMA neurology [JAMA Neurol] 2023 Sep 01; Vol. 80 (9), pp. 980-988.

Clinical Perspectives on the Genetics of Schizophrenia: a Bottom-up Orientation.

Autor: VERHOEVEN, WILLEM M. A.^1,2 wverhoeven@vvgi.nl, TUINIER, SIEGFRIED¹

Publikováno v: Neurotoxicity Research. 2008, Vol. 14 Issue 2/3, p141-150. 10p.