Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Julia W. Chang, Samuel D. Reyes, Emmanuelle Faure-Kumar, Sandi K. Lam, Michael W. Lawlor, Richard J. Leventer, Sean M. Lew, Paul J. Lockhart, Kathryn Pope, Howard L. Weiner, Noriko Salamon, Harry V. Vinters, Gary W. Mathern, Aria Fallah, Geoffrey C. Owens
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Using a targeted transcriptomics approach, we have analyzed resected brain tissue from a cohort of 53 pediatric epilepsy surgery cases, and have found that there is a spectrum of involvement of both the innate and adaptive immune systems as evidenced
Externí odkaz:
https://doaj.org/article/06fc4d740dee4ce39fe3cd169ded8032
Autor:
Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1344 (2022)
Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical dyslamination with the presence of dysmorphic neurons only (FCDIIA) or the presence of both dysmorphic neurons and balloon cells (FCDIIB). The year 2021 ma
Externí odkaz:
https://doaj.org/article/5d18c3ab5cf5412ea7dad52dca189a3a
Autor:
Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Publikováno v:
Neurobiology of Disease, Vol 114, Iss , Pp 184-193 (2018)
Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered ce
Externí odkaz:
https://doaj.org/article/d96a4bc055504f58a5b144f60abff0d5
Autor:
Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan
Publikováno v:
TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002
https://doi.org/10.1016/j.ajhg.2022.03.002
Autor:
Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1344, p 1344 (2022)
Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical dyslamination with the presence of dysmorphic neurons only (FCDIIA) or the presence of both dysmorphic neurons and balloon cells (FCDIIB). The year 2021 ma
Autor:
Sarah E.M. Stephenson, Greta Gillies, Kate Pope, Simone Mandelstam, AS Harvey, Paul J. Lockhart, Alison Wray, Katherine B. Howell, Wei Shern Lee, Samuel F. Berkovic, William Maixner, Ingrid E. Scheffer, Richard J. Leventer, Duncan MacGregor
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothes
Autor:
Paul J. Lockhart, Catherine A Bailey, Emma Macdonald-Laurs, Wirginia J. Maixner, Joseph Yuan-Mou Yang, Richard J. Leventer, A. Simon Harvey, Sarah Barton, Duncan MacGregor, Simone Mandelstam
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 23(1)
We report a child with a history of temporal-parietal-occipital disconnection for epilepsy secondary to posterior quadrantic dysplasia who developed recurrent and prolonged bouts of distress and autonomic disturbance associated with EEG and PET evide
Autor:
Sarah E.M. Stephenson, Stéphanie Baulac, A. Simon Harvey, Paul J. Lockhart, Homa Adle-Biassette, Mathilde Chipaux, Sara Baldassari, Richard J. Leventer, Wirginia J. Maixner, Wei Shern Lee
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
International audience; Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain-specific somatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326295ddc42bc96e9f4b06e5006117c5
https://hal.sorbonne-universite.fr/hal-03425474
https://hal.sorbonne-universite.fr/hal-03425474
Autor:
Greta Gillies, AS Harvey, Amy L Schneider, Alexander Dobrovic, William Maixner, John A. Damiano, Martin Wood, Paul J. Lockhart, Hongdo Do, Samuel F. Berkovic, Wei Shern Lee, Richard J. Leventer, Michael S. Hildebrand, Zac Chatterton, Jahnvi Pflueger, Ingrid E. Scheffer, Ryan Lister, Lara McQuillan, Kate Pope, Melanie Bahlo, Michael Wilson, Stephen M. Malone, Zimeng Ye, Bernadette Nolan
Publikováno v:
Brain Communications
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be dete
Autor:
Anna Jansen, Paul J. Lockhart, Simone Mandelstam, Kate Pope, Katrien Stouffs, Stefanie Brock, George McGillivray, Martin B. Delatycki, Richard J. Leventer, Chloe A Stutterd, Miriam Fanjul-Fernández
Publikováno v:
Brain Communications
Polymicrogyria is a malformation of cortical development characterized by overfolding and abnormal lamination of the cerebral cortex. Manifestations include epilepsy, speech disturbance and motor and cognitive disability. Causes include acquired pren