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Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 2, p. 152, doi. 10.1177/0883073820960314
By:
- Blauen, Aglaë;
- Stutterd, Chloe A.;
- Stouffs, Katrien;
- Dumitriu, Dana;
- Deggouj, Naima;
- Lockhart, Paul J.;
- Leventer, Richard J.;
- Nassogne, Marie-Cécile;
- Jansen, Anna C.
Publication type:
Article
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
Published in:
Journal of Child Neurology, 2019, v. 34, n. 8, p. 472, doi. 10.1177/0883073819840449
By:
- MacLennan, Alastair H.;
- Lewis, Sara;
- Moreno-De-Luca, Andres;
- Fahey, Michael;
- Leventer, Richard J.;
- McIntyre, Sarah;
- Ben-Pazi, Hilla;
- Corbett, Mark;
- Wang, Xiaoyang;
- Baynam, Gareth;
- Fehlings, Darcy;
- Kurian, Manju A.;
- Zhu, Changlian;
- Himmelmann, Kate;
- Smithers-Sheedy, Hayley;
- Wilson, Yana;
- Ocaña, Carlos Santos;
- van Eyk, Clare;
- Badawi, Nadia;
- Wintle, Richard F.
Publication type:
Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
By:
- Sim, Joe C. H.;
- White, Susan M.;
- Fitzpatrick, Elizabeth;
- Wilson, Gabrielle R.;
- Gillies, Greta;
- Pope, Kate;
- Mountford, Hayley S.;
- Torring, Pernille M.;
- McKee, Shane;
- Vulto-van Silfhout, Anneke T.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Leventer, Richard J.;
- Delatycki, Martin B.;
- Amor, David J.;
- Lockhart, Paul J.
Publication type:
Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Published in:
2014
By:
- Sim, Joe C H;
- White, Susan M;
- Fitzpatrick, Elizabeth;
- Wilson, Gabrielle R;
- Gillies, Greta;
- Pope, Kate;
- Mountford, Hayley S;
- Torring, Pernille M;
- McKee, Shane;
- Vulto-van Silfhout, Anneke T;
- Jhangiani, Shalini N;
- Muzny, Donna M;
- Leventer, Richard J;
- Delatycki, Martin B;
- Amor, David J;
- Lockhart, Paul J
Publication type:
journal article
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1264, doi. 10.1093/brain/awad379
By:
- Macdonald-Laurs, Emma;
- Warren, Aaron E L;
- Francis, Peter;
- Mandelstam, Simone A;
- Lee, Wei Shern;
- Coleman, Matthew;
- Stephenson, Sarah E M;
- Barton, Sarah;
- D'Arcy, Colleen;
- Lockhart, Paul J;
- Leventer, Richard J;
- Harvey, A Simon
Publication type:
Article
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. e119, doi. 10.1093/brain/awac320
By:
- Lee, Wei Shern;
- Leventer, Richard J;
- Lockhart, Paul J
Publication type:
Article
Definitions and classification of malformations of cortical development: practical guidelines.
Published in:
2020
By:
- Severino, Mariasavina;
- Geraldo, Ana Filipa;
- Utz, Norbert;
- Tortora, Domenico;
- Pogledic, Ivana;
- Klonowski, Wlodzimierz;
- Triulzi, Fabio;
- Arrigoni, Filippo;
- Mankad, Kshitij;
- Leventer, Richard J;
- Mancini, Grazia M S;
- Barkovich, James A;
- Lequin, Maarten H;
- Rossi, Andrea
Publication type:
journal article
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.
Published in:
Epilepsia (Series 4), 2014, v. 55, n. 3, p. e22, doi. 10.1111/epi.12533
By:
- Leventer, Richard J.;
- Jansen, Floor E.;
- Mandelstam, Simone A.;
- Ho, Alice;
- Mohamed, Ismail;
- Sarnat, Harvey B.;
- Kato, Mitsuhiro;
- Fukasawa, Tatsuya;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Itoh, Masayuki;
- Kalnins, Renate M.;
- Chow, Chung W.;
- Harvey, A. Simon;
- Jackson, Graeme D.;
- Crino, Peter B.;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.
Publication type:
Article
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1902, doi. 10.1111/j.1528-1167.2010.02694.x
By:
- Lawrence, Kate M.;
- Mei, Davide;
- Newton, Mark R.;
- Leventer, Richard J.;
- Guerrini, Renzo;
- Berkovic, Samuel F.
Publication type:
Article
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1344, doi. 10.3390/ijms23031344
By:
- Lee, Wei Shern;
- Baldassari, Sara;
- Stephenson, Sarah E. M.;
- Lockhart, Paul J.;
- Baulac, Stéphanie;
- Leventer, Richard J.
Publication type:
Article
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.61769
By:
- Morcom, Laura;
- Gobius, Ilan;
- Marsh, Ashley P. L.;
- Suárez, Rodrigo;
- Lim, Jonathan W. C.;
- Bridges, Caitlin;
- Yunan Ye;
- Fenlon, Laura R.;
- Zagar, Yvrick;
- Douglass, Amelia M.;
- Donahoo, Amber-Lee S.;
- Fothergill, Thomas;
- Shaikh, Samreen;
- Kozulin, Peter;
- Edwards, Timothy J.;
- Cooper, Helen M.;
- Consortium, IRC5;
- Sherr, Elliott H.;
- Chédotal, Alain;
- Leventer, Richard J.
Publication type:
Article
Polymicrogyria: A common and heterogeneous malformation of cortical development.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 2, p. 227, doi. 10.1002/ajmg.c.31399
By:
- Stutterd, Chloe A.;
- Leventer, Richard J.
Publication type:
Article
High resolution chromosomal microarray in undiagnosed neurological disorders.
Published in:
Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
By:
- Howell, Katherine B;
- Kornberg, Andrew J;
- Harvey, A Simon;
- Ryan, Monique M;
- Mackay, Mark T;
- Freeman, Jeremy L;
- Rodriguez Casero, M Victoria;
- Collins, Kevin J;
- Hayman, Michael;
- Mohamed, Ahmad;
- Ware, Tyson L;
- Clark, Damian;
- Bruno, Damien L;
- Burgess, Trent;
- Slater, Howard;
- McGillivray, George;
- Leventer, Richard J
Publication type:
Article
Inhibitory control in children with agenesis of the corpus callosum compared with typically developing children.
Published in:
Journal of the International Neuropsychological Society, 2024, v. 30, n. 1, p. 18, doi. 10.1017/S1355617723000218
By:
- Soon, Emilyn;
- Siffredi, Vanessa;
- Anderson, Peter J.;
- Anderson, Vicki A.;
- McIlroy, Alissandra;
- Leventer, Richard J.;
- Wood, Amanda G.;
- Spencer-Smith, Megan M.
Publication type:
Article
A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children.
Published in:
Journal of the International Neuropsychological Society, 2018, v. 24, n. 5, p. 445, doi. 10.1017/S1355617717001357
By:
- Siffredi, Vanessa;
- Anderson, Vicki;
- McIlroy, Alissandra;
- Wood, Amanda G.;
- Leventer, Richard J.;
- Spencer-Smith, Megan M.
Publication type:
Article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
By:
- Stutterd, Chloe A.;
- Kidd, Alexa;
- Florkowski, Chris;
- Janus, Edward;
- Fanjul, Miriam;
- Raizis, Anthony;
- Wu, Teddy Y.;
- Archer, John;
- Leventer, Richard J.;
- Amor, David J.;
- Lukic, Vesna;
- Bahlo, Melanie;
- Gow, Paul;
- Lockhart, Paul J.;
- van der Knaap, Marjo S.;
- Delatycki, Martin B.
Publication type:
Article
The spectrum of brain malformations and disruptions in twins.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
By:
- Park, Kaylee B.;
- Chapman, Teresa;
- Aldinger, Kimberly A.;
- Mirzaa, Ghayda M.;
- Zeiger, Jordan;
- Beck, Anita;
- Glass, Ian A.;
- Hevner, Robert F.;
- Jansen, Anna C.;
- Marshall, Desiree A.;
- Oegema, Renske;
- Parrini, Elena;
- Saneto, Russell P.;
- Curry, Cynthia J.;
- Hall, Judith G.;
- Guerrini, Renzo;
- Leventer, Richard J.;
- Dobyns, William B.
Publication type:
Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795
By:
- Andelman‐Gur, Michal M.;
- Leventer, Richard J;
- Hujirat, Mohammad;
- Ganos, Christos;
- Yosovich, Keren;
- Carmi, Nirit;
- Lev, Dorit;
- Nissenkorn, Andreea;
- Dobyns, William B.;
- Bhatia, Kailash;
- Lerman‐Sagie, Tally;
- Blumkin, Lubov
Publication type:
Article
Expanding the neurodevelopmental phenotype of PURA syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
By:
- Lee, Bo Hoon;
- Reijnders, Margot R. F.;
- Abubakare, Oluwatobi;
- Tuttle, Emily;
- Lape, Brynn;
- Minks, Kelly Q.;
- Stodgell, Christopher;
- Bennetto, Loisa;
- Kwon, Jennifer;
- Fong, Chin‐To;
- Gripp, Karen W.;
- Marsh, Eric D.;
- Smith, Wendy E.;
- Huq, Ahm M.;
- Coury, Stephanie A.;
- Tan, Wen‐Hann;
- Solis, Orestes;
- Mehta, Rupal I.;
- Leventer, Richard J.;
- Baralle, Diana
Publication type:
Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
By:
- Marsh, Ashley P. L.;
- Yap, Patrick;
- Tan, Tiong;
- Pope, Kate;
- White, Susan M.;
- Chong, Belinda;
- Mcgillivray, George;
- Boys, Amber;
- Stephenson, Sarah E. M.;
- Leventer, Richard J.;
- Stark, Zornitza;
- Lockhart, Paul J.
Publication type:
Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Published in:
Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
By:
- Lessel, Davor;
- Kubisch, Christian;
- Cabrera, Elisa;
- Freire, Raimundo;
- Nahid, Amsha;
- Norris, Fiona;
- Leventer, Richard J;
- Delatycki, Martin B;
- Barbi, Gotthold;
- von Ameln, Simon;
- Högel, Josef;
- Fertig, Regina;
- Burkhalter, Martin D;
- Hofmann, Kay;
- Thiele, Holger;
- Altmüller, Janine;
- Nürnberg, Gudrun;
- Vaz, Bruno;
- Nürnberg, Peter;
- Bahlo, Melanie
Publication type:
Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Published in:
PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
By:
- Heinzen, Erin L.;
- O'Neill, Adam C.;
- Zhu, Xiaolin;
- Allen, Andrew S.;
- Bahlo, Melanie;
- Chelly, Jamel;
- Dobyns, William B.;
- Freytag, Saskia;
- Guerrini, Renzo;
- Leventer, Richard J.;
- Poduri, Annapurna;
- Robertson, Stephen P.;
- Walsh, Christopher A.;
- Zhang, Mengqi;
- null, null
Publication type:
Article
Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis.
Published in:
Multiple Sclerosis Journal, 2016, v. 22, n. 4, p. 470, doi. 10.1177/1352458515593406
By:
- Ramanathan, Sudarshini;
- Prelog, Kristina;
- Barnes, Elizabeth H.;
- Tantsis, Esther M.;
- Reddel, Stephen W.;
- Henderson, Andrew P. D.;
- Vucic, Steve;
- Gorman, Mark P.;
- Benson, Leslie A.;
- Alper, Gulay;
- Riney, Catherine J.;
- Barnett, Michael;
- Parratt, John D. E.;
- Hardy, Todd A.;
- Leventer, Richard J.;
- Merheb, Vera;
- Nosadini, Margherita;
- Fung, Victor S. C.;
- Brilot, Fabienne;
- Dale, Russell C.
Publication type:
Article
Speech and language in bilateral perisylvian polymicrogyria: a systematic review.
Published in:
2019
By:
- Braden, Ruth O;
- Leventer, Richard J;
- Jansen, Anna;
- Scheffer, Ingrid E;
- Morgan, Angela T
Publication type:
journal article
Evaluation of non-coding variation in GLUT1 deficiency.
Published in:
2016
By:
- Liu, Yu‐Chi;
- Lee, Jia Wei Audrey;
- Bellows, Susannah T;
- Damiano, John A;
- Mullen, Saul A;
- Berkovic, Samuel F;
- Bahlo, Melanie;
- Scheffer, Ingrid E;
- Hildebrand, Michael S;
- Ryan, Monique M.;
- Leventer, Richard J.;
- Freeman, Jeremy L.;
- Mackay, Mark T.;
- Hayman, Michael;
- Rodriguez‐Casero, Victoria;
- Subramanian, Gopi;
- Webster, Richard;
- Sadleir, Lynette G.
Publication type:
journal article
The histopathology of polymicrogyria: a series of 71 brain autopsy studies.
Published in:
2016
By:
- Jansen, Anna C;
- Robitaille, Yves;
- Honavar, Mrinalini;
- Mullatti, Nandini;
- Leventer, Richard J;
- Andermann, Eva;
- Andermann, Frederick;
- Squier, Waney
Publication type:
journal article
Predicting neurocognitive and behavioural outcome after early brain insult.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 329, doi. 10.1111/dmcn.12387
By:
- Anderson, Vicki A;
- Spencer‐Smith, Megan M;
- Coleman, Lee;
- Anderson, Peter J;
- Greenham, Mardee;
- Jacobs, Rani;
- Lee, Katherine J;
- Leventer, Richard J
Publication type:
Article
MAGNETIC RESONANCE IMAGING FEATURES OF LISSENCEPHALY IN 2 LHASA APSOS.
Published in:
Veterinary Radiology & Ultrasound, 2002, v. 43, n. 4, p. 331, doi. 10.1111/j.1740-8261.2002.tb01013.x
By:
- Saito, Miyoko;
- Sharp, Nicholas J.H.;
- Kortz, Gregg D.;
- Lahunta, Alexander;
- Leventer, Richard J.;
- Tokuriki, Mikihiko;
- Thrall, Donald E.
Publication type:
Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
By:
- Wilson, Gabrielle R;
- Sunley, Jasmine;
- Smith, Katherine R;
- Pope, Kate;
- Bromhead, Catherine J;
- Fitzpatrick, Elizabeth;
- Di Rocco, Maja;
- van Steensel, Maurice;
- Coman, David J;
- Leventer, Richard J;
- Delatycki, Martin B;
- Amor, David J;
- Bahlo, Melanie;
- Lockhart, Paul J
Publication type:
Article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
By:
- Reinstein, Eyal;
- Frentz, Sophia;
- Morgan, Tim;
- García-Miñaúr, Sixto;
- Leventer, Richard J;
- McGillivray, George;
- Pariani, Mitchel;
- van der Steen, Anthony;
- Pope, Michael;
- Holder-Espinasse, Muriel;
- Scott, Richard;
- Thompson, Elizabeth M;
- Robertson, Terry;
- Coppin, Brian;
- Siegel, Robert;
- Bret Zurita, Montserrat;
- Rodríguez, Jose I;
- Morales, Carmen;
- Rodrigues, Yuri;
- Arcas, Joaquín
Publication type:
Article
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 6, p. 701, doi. 10.1038/ejhg.2008.230
By:
- Delatycki, Martin B.;
- Leventer, Richard J.
Publication type:
Article
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200548
By:
- Matsumoto, Naomichi;
- Leventer, Richard J;
- Kuc, Julie A;
- Mewborn, Stephanie K;
- Dudlicek, Laura L;
- Ramocki, Melissa B;
- Pilz, Daniela T;
- Mills, Patti L;
- Das, Soma;
- Ross, M Elizabeth;
- Ledbetter, David H;
- Dobyns, William B
Publication type:
Article
Guillain–Barré syndrome with optic neuritis.
Published in:
Journal of Paediatrics & Child Health, 2022, v. 58, n. 5, p. 887, doi. 10.1111/jpc.15656
By:
- Andersen, Erik W;
- Ryan, Monique M;
- Leventer, Richard J
Publication type:
Article
Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.
Published in:
2016
By:
- Andersen, Erik W;
- Leventer, Richard J;
- Reddihough, Dinah S;
- Davis, Mark R;
- Ryan, Monique M
Publication type:
journal article
Balancing risks and benefits still the key to anti-epileptic prescribing for benign epilepsy with centro-temporal spikes.
Published in:
2016
By:
- Cooper, Monica S;
- Leventer, Richard J
Publication type:
journal article
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 11, doi. 10.1002/jmd2.12081
By:
- Bursle, Carolyn;
- Yiu, Eppie M.;
- Yeung, Alison;
- Freeman, Jeremy L.;
- Stutterd, Chloe;
- Leventer, Richard J.;
- Vanderver, Adeline;
- Yaplito‐Lee, Joy
Publication type:
Article
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Published in:
Epilepsia Open, 2023, v. 8, n. 1, p. 205, doi. 10.1002/epi4.12678
By:
- Lee, Wei Shern;
- Macdonald‐Laurs, Emma;
- Stephenson, Sarah E M;
- D'Arcy, Colleen;
- MacGregor, Duncan;
- Leventer, Richard J;
- Maixner, Wirginia;
- Harvey, A Simon;
- Lockhart, Paul J
Publication type:
Article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
Published in:
Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
By:
- Ware, Tyson L.;
- Huskins, Shannon R.;
- Grinton, Bronwyn E.;
- Liu, Yu‐Chi;
- Bennett, Mark F.;
- Harvey, Michael;
- McMahon, Jacinta;
- Andreopoulos‐Malikotsinas, Danae;
- Bahlo, Melanie;
- Howell, Katherine B.;
- Hildebrand, Michael S.;
- Damiano, John A.;
- Rosenfeld, Alexander;
- Mackay, Mark T.;
- Mandelstam, Simone;
- Leventer, Richard J.;
- Harvey, A. Simon;
- Freeman, Jeremy L.;
- Scheffer, Ingrid E.;
- Jones, Dean L.
Publication type:
Article
Revisiting brain rewiring and plasticity in children born without corpus callosum.
Published in:
Developmental Science, 2021, v. 24, n. 6, p. 1, doi. 10.1111/desc.13126
By:
- Siffredi, Vanessa;
- Preti, Maria G.;
- Obertino, Silvia;
- Leventer, Richard J.;
- Wood, Amanda G.;
- McIlroy, Alissandra;
- Anderson, Vicki;
- Spencer‐Smith, Megan M.;
- Van De Ville, Dimitri
Publication type:
Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1415, doi. 10.1093/brain/awq078
By:
- Leventer, Richard J.;
- Jansen, Anna;
- Pilz, Daniela T.;
- Stoodley, Neil;
- Marini, Carla;
- Dubeau, Francois;
- Malone, Jodie;
- Mitchell, L. Anne;
- Mandelstam, Simone;
- Scheffer, Ingrid E.;
- Berkovic, Samuel F.;
- Andermann, Frederick;
- Andermann, Eva;
- Guerrini, Renzo;
- Dobyns, William B.
Publication type:
Article
Periventricular nodular heterotopia with overlying polymicrogyria.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2811, doi. 10.1093/brain/awh658
By:
- Gretchen Wieck;
- Richard J. Leventer;
- Waney M. Squier;
- An Jansen;
- Eva Andermann;
- Francois Dubeau;
- Anna Ramazzotti;
- Renzo Guerrini;
- William B. Dobyns
Publication type:
Article
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1644, doi. 10.1111/epi.17947
By:
- Macdonald‐Laurs, Emma;
- Warren, Aaron E. L.;
- Leventer, Richard J.;
- Harvey, A. Simon
Publication type:
Article
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
By:
- Oliver, Karen L.;
- Trivisano, Marina;
- Mandelstam, Simone A.;
- De Dominicis, Angela;
- Francis, David I.;
- Green, Timothy E.;
- Muir, Alison M.;
- Chowdhary, Apoorva;
- Hertzberg, Christoph;
- Goldhahn, Klaus;
- Metreau, Julia;
- Prager, Christine;
- Pinner, Jason;
- Cardamone, Michael;
- Myers, Kenneth A.;
- Leventer, Richard J.;
- Lesca, Gaetan;
- Bahlo, Melanie;
- Hildebrand, Michael S.;
- Mefford, Heather C.
Publication type:
Article
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 2, p. 348, doi. 10.1111/epi.17495
By:
- Macdonald‐Laurs, Emma;
- Warren, Aaron E. L.;
- Lee, Wei Shern;
- Yang, Joseph Yuan‐Mou;
- MacGregor, Duncan;
- Lockhart, Paul J.;
- Leventer, Richard J.;
- Neal, Andrew;
- Harvey, A. Simon
Publication type:
Article
The severe epilepsy syndromes of infancy: A population‐based study.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 2, p. 358, doi. 10.1111/epi.16810
By:
- Howell, Katherine B.;
- Freeman, Jeremy L.;
- Mackay, Mark T.;
- Fahey, Michael C.;
- Archer, John;
- Berkovic, Samuel F.;
- Chan, Eunice;
- Dabscheck, Gabriel;
- Eggers, Stefanie;
- Hayman, Michael;
- Holberton, James;
- Hunt, Rodney W.;
- Jacobs, Susan E.;
- Kornberg, Andrew J.;
- Leventer, Richard J.;
- Mandelstam, Simone;
- McMahon, Jacinta M.;
- Mefford, Heather C.;
- Panetta, Julie;
- Riseley, Jessica
Publication type:
Article
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 485, doi. 10.1002/acn3.51286
By:
- Lee, Wei Shern;
- Baldassari, Sara;
- Chipaux, Mathilde;
- Adle‐Biassette, Homa;
- Stephenson, Sarah E. M.;
- Maixner, Wirginia;
- Harvey, A. Simon;
- Lockhart, Paul J.;
- Baulac, Stéphanie;
- Leventer, Richard J.
Publication type:
Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
By:
- Lee, Wei Shern;
- Stephenson, Sarah E. M.;
- Howell, Katherine B.;
- Pope, Kate;
- Gillies, Greta;
- Wray, Alison;
- Maixner, Wirginia;
- Mandelstam, Simone A.;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.;
- MacGregor, Duncan;
- Harvey, Anthony Simon;
- Lockhart, Paul J.;
- Leventer, Richard J.
Publication type:
Article
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 859, doi. 10.1002/acn3.487
By:
- Stutterd, Chloe;
- Diakumis, Peter;
- Bahlo, Melanie;
- Fanjul Fernandez, Miriam;
- Leventer, Richard J.;
- Delatycki, Martin;
- Amor, David;
- Chow, Chung W.;
- Stephenson, Sarah;
- Meisler, Miriam H.;
- Mclean, Catriona;
- Lockhart, Paul J.
Publication type:
Article
Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.664344
By:
- Chang, Julia W.;
- Reyes, Samuel D.;
- Faure-Kumar, Emmanuelle;
- Lam, Sandi K.;
- Lawlor, Michael W.;
- Leventer, Richard J.;
- Lew, Sean M.;
- Lockhart, Paul J.;
- Pope, Kathryn;
- Weiner, Howard L.;
- Salamon, Noriko;
- Vinters, Harry V.;
- Mathern, Gary W.;
- Fallah, Aria;
- Owens, Geoffrey C.
Publication type:
Article

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