Bariatric Surgery-Associated Myelopathy

Autor: Sewar Asakly, Ramit Magen-Rimon, Ahmad Ighbariya, Miriam Marjih-Shallufi, Tair Ben-Porat, Sarit Ravid, Ayelet Eran, Vardit Gepstein, Suhair Hanna, Ram Weiss

Publikováno v: Obesity Facts, Vol 14, Iss 4, Pp 431-439 (2021)

Bariatric surgery is gaining acceptance as an efficient treatment modality for adults and adolescents with morbid obesity. The early postbariatric period has the potential to induce an immunomodulatory imbalance due to the development or worsening of

Externí odkaz: https://doaj.org/article/6f3af8300ba3444cbe2e7db5fff35bca

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Autor: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler

Publikováno v: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Autor: Matias Wagner, Hava Hafner, Erez Y. Levanon, Alessandro Esposito, Antonio Falace, Silvia Giovedì, Antonio De Fusco, Tiziana Pisano, Sarit Ravid, Hanna Mandel, Davide Aprile, Ayelet Eran, Sarah L. Stenton, Saskia B. Wortmann, Annette Seibt, Maria Sabina Cerullo, Davide Mei, Valerio Conti, Daniella Magen, Carla Marini, Chiara Fiorillo, Felix Distelmaier, Ertan Mayatepek, Fabio Benfenati, Tilman Polster, Moran Gal, Anna Fassio, Renzo Guerrini

Publikováno v: Brain 142, 3876-3891 (2019)

Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the first weeks or months of life with intractable seizures and profound developmental disabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23f148f4503df6db03ad4c9d81fa8b0
https://pubmed.ncbi.nlm.nih.gov/31840736

Acute ataxia in children: Common causes and yield of diagnostic work-up in the era of varicella vaccination

Autor: Sarit Ravid, Aharon Schif, Imad Kasis, Elena Segal

Publikováno v: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 68

We aimed to identify the most common causes of acute ataxia in children in the era of widespread varicella vaccination and the yield of commonly used diagnostic work-up. This retrospective study reviewed the medical records of children who presented

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7fead12a244d9f73aa5ca87452028d
https://pubmed.ncbi.nlm.nih.gov/31327588

Sensory processing disabilities in childhood-onset generalized epilepsy

Autor: Eli Shahar, Batya Engel-Yeger, Sharon Zlotnik, Sarit Ravid

Publikováno v: Journal of Pediatric Neurology. 11:083-088

Sensory processing abilities involve the registration and modulation of sensory information and the internal organi- zation of sensory input. These abilities are necessary for executing successful responses to the environmental demands and thus for m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2db006c5b7ad46b2b172bca6e4163a42
https://doi.org/10.3233/jpn-130600