Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Simone A, Mandelstam"'
Autor:
Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
Abstract 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
Externí odkaz:
https://doaj.org/article/9a324a5ce8934bbc85b57f18d8559bdd
Autor:
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Publikováno v:
Epilepsia. 64:1351-1367
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::778162645550a6966977db2b3b54f266
https://doi.org/10.1111/epi.17542
https://doi.org/10.1111/epi.17542
Autor:
Natasha J, Brown, Zimeng, Ye, Chloe, Stutterd, Sureshni I, Jayasinghe, Amy, Schneider, Saul, Mullen, Simone A, Mandelstam, Michael S, Hildebrand
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include ben
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::381ff5c47e1e7c00c0c2d1df7fd07609
https://pubmed.ncbi.nlm.nih.gov/34588213
https://pubmed.ncbi.nlm.nih.gov/34588213
Autor:
Karen L, Oliver, Silvana, Franceschetti, Carol J, Milligan, Mikko, Muona, Simone A, Mandelstam, Laura, Canafoglia, Anna M, Boguszewska-Chachulska, Amos D, Korczyn, Francesca, Bisulli, Carlo, Di Bonaventura, Francesca, Ragona, Roberto, Michelucci, Bruria, Ben-Zeev, Rachel, Straussberg, Ferruccio, Panzica, João, Massano, Daniel, Friedman, Arielle, Crespel, Bernt A, Engelsen, Frederick, Andermann, Eva, Andermann, Krystyna, Spodar, Anetta, Lasek-Bal, Patrizia, Riguzzi, Elena, Pasini, Paolo, Tinuper, Laura, Licchetta, Elena, Gardella, Matthias, Lindenau, Annette, Wulf, Rikke S, Møller, Felix, Benninger, Zaid, Afawi, Guido, Rubboli, Christopher A, Reid, Snezana, Maljevic, Holger, Lerche, Anna-Elina, Lehesjoki, Steven, Petrou, Samuel F, Berkovic
Publikováno v:
Annals of neurology. 81(5)
To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.We analyzed clinical, electro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37102853278507196f841f5281fe2c2e
https://pubmed.ncbi.nlm.nih.gov/28380698
https://pubmed.ncbi.nlm.nih.gov/28380698
Autor:
Joe C, Sim, Thomas, Scerri, Miriam, Fanjul-Fernández, Jessica R, Riseley, Greta, Gillies, Kate, Pope, Hanna, van Roozendaal, Julian I, Heng, Simone A, Mandelstam, George, McGillivray, Duncan, MacGregor, Lakshminarayanan, Kannan, Wirginia, Maixner, A Simon, Harvey, David J, Amor, Martin B, Delatycki, Peter B, Crino, Melanie, Bahlo, Paul J, Lockhart, Richard J, Leventer
Publikováno v:
Annals of neurology. 79(1)
We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fa7dc38acee86604e76b217704dbd5f
https://pubmed.ncbi.nlm.nih.gov/26285051
https://pubmed.ncbi.nlm.nih.gov/26285051
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Ipsilateral loss of anterior temporal gray-white matter definition, due mainly to white matter signal intensity abnormality, is frequently seen on MR images of patients with hippocampal sclerosis. Our aim was to determine the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7767fe29f0db9209fc9416f62d7bc6ce
https://pubmed.ncbi.nlm.nih.gov/13679290
https://pubmed.ncbi.nlm.nih.gov/13679290
Autor:
Emmanuelle Lacaze, Gail Robinson, Jacquelyn L. Knight, Christel Depienne, Delphine Héron, Richard J. Leventer, Paul J. Lockhart, Megan Spencer-Smith, Linda J. Richards
Publikováno v:
developmental medecine and child neurology
developmental medecine and child neurology, 2020, 62 (6), pp.758-762. ⟨10.1111/dmcn.14486⟩
developmental medecine and child neurology, 2020, 62 (6), pp.758-762. ⟨10.1111/dmcn.14486⟩
Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad9a73377b008f9cbe25fe13f6bcf94
https://hdl.handle.net/11343/275413
https://hdl.handle.net/11343/275413
