Microstructural analysis does not support altered interhemispheric wiring of the human anterior commissure in corpus callosum dysgenesis

Autor: Timothy J. Edwards, Ryan J. Dean, Gail A. Robinson, Jacquelyn Knight, Simone A. Mandelstam, Linda J. Richards

Publikováno v: NeuroImage: Clinical, Vol 44, Iss , Pp 103692- (2024)

Background: Individuals with corpus callosum dysgenesis (CCD) lack the clear disconnection syndrome that is characteristic of individuals in whom the corpus callosum has been surgically severed. One potential explanation for this paradox is that the

Externí odkaz: https://doaj.org/article/6eb81f2874df4495947e3561f2d45695

Verbal Adynamia and Conceptualization in Partial Rhombencephalosynapsis and Corpus Callosum Dysgenesis

Autor: Ryan J. Dean, Simone Mandelstam, Linda J. Richards, Gail Robinson, Megan S. Barker, Jacquelyn L. Knight

Publikováno v: Cognitive and Behavioral Neurology. 34:38-52

Verbal adynamia is characterized by markedly reduced spontaneous speech that is not attributable to a core language deficit such as impaired naming, reading, repetition, or comprehension. In some cases, verbal adynamia is severe enough to be consider

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e69b6f29ec65156ccbbc5e486d27d6c1
https://doi.org/10.1097/wnn.0000000000000261

DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation

Autor: Laura Morcom, Yunan Ye, Elliott H. Sherr, Ilan Gobius, Kok-Siong Chen, Ryan J. Dean, Jens Bunt, Rodrigo Suárez, Linda J. Richards, Dorothy M. Jones-Davis, Timothy J. Edwards, Eric Rider, Simone Mandelstam, Jonathan W. C. Lim

Publikováno v: eLife
eLife, Vol 10 (2021)

Corpus callosum dysgenesis (CCD) is a congenital disorder that incorporates either partial or complete absence of the largest cerebral commissure. Remodelling of the interhemispheric fissure (IHF) provides a substrate for callosal axons to cross betw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a6646fd61789eebbc5b011f6f5e29d
https://doi.org/10.1101/2020.07.29.227827

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Autor: Sonal Mahida, Elliott H. Sherr, Elodie Lacaze, William B. Dobyns, Kosuke Izumi, Hilde Peeters, Marielle Alders, Catherine Nowak, Dawn L. Earl, Richard M. Gronostajski, Ryan J. Dean, Megan T. Cho, Anouck Schneider, Siren Berland, Patricia Blanchet, Laurence Faivre, Martin Zenker, Ina Schanze, Caitlin J. Bridges, Daniela T. Pilz, Sangamitra Boppudi, Ilse Wieland, Jens Bunt, Avni Santani, Jessica Douglas, Elaine H. Zackai, Muriel Holder-Espinasse, Linda J. Richards, Jean Baptiste Rivière, Tania Attié-Bitach, Timothy J. Edwards, Vincent Gatinois, Jacques Puechberty, Jonathan W. C. Lim, Ghayda Mirzaa, Sian Morgan, Phillis Lakeman, Steven Boogert, Samuel Huth, Marion Gérard, Denny Schanze, Florence Petit, Xiaonan Zhao, Eyal Reinstein, David Geneviève, Bronwyn Kerr, Dian Donnai, Constance Smith-Hicks, Brieana Fregeau

Publikováno v: American journal of human genetics, 103(5), 752-768. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American journal of human genetics, vol 103, iss 5

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9695545ac31c931a40288754e47b8ee9
https://doi.org/10.1016/j.ajhg.2018.10.006

Increased cognitive complexity reveals abnormal brain network activity in individuals with corpus callosum dysgenesis

Autor: Linda J. Richards, Ryan J. Dean, Luke J. Hearne, Gail Robinson, Luca Cocchi, Jason B. Mattingley

Publikováno v: NeuroImage : Clinical
NeuroImage: Clinical, Vol 21, Iss, Pp-(2019)

Cognitive reasoning is thought to require functional interactions between whole-brain networks. Such networks rely on both cerebral hemispheres, with the corpus callosum providing cross-hemispheric communication. Here we used high-field functional ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7d44c81b85d60eff9a5020afd698bf
https://pubmed.ncbi.nlm.nih.gov/30473430