Results 101 to 110 of about 18,789 (283)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Hypertension in pregnancy with connective tissue dysplasia [PDF]

European Heart Journal, 2013
I. R. Gaisin, R. M. Valeeva, A. S. Iskchakova, L. V. Shilina, Z. V. Vavilkina, L. A. Kchodirev   +5 more
openaire   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Chest wall deformation as one of manifestations of connective tissue dysplasia [PDF]

, 2016
Chest wall deformations are divided into congenital and acquired. According to various authors, these deformities occur in 4% of the population and more often is combined with manifestations of connective tissue dysplasia (CTD).
Gordyeyeva, A.A., Zabolotnaya, N.I., Plohinov, G.A.   +2 more
core  

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices

Epilepsia, EarlyView.
Abstract Objective Pediatric epilepsy surgery is well established, but contemporary global data on referral and presurgical evaluation practices are lacking. This International League Against Epilepsy (ILAE) Pediatric Epilepsy Surgery Task Force study provides an updated overview of current trends and regional differences. Methods Group‐level data were
Georgia Ramantani, J. Helen Cross, Dorottya Cserpan, Emtnan Ahemad, Javier Aparicio, Alexis Arzimanoglou, Carmen Barba, William Bingaman, Kees Braun, Richard J. Burman, James Butler, Lixin Cai, Dezhi Cao, Roberto Caraballo, Mathilde Chipaux‐Raffo, Thomas Cloppenborg, Arthur Cukiert, Cristine Mella Cukiert, Sameer Dal, Dario Englot, Noelle Enright, Aria Fallah, Sarah Ferrand Sorbets, Martha Feucht, Deepak Gill, Laura Guio Mahecha, Aris Hadjinicolaou, Tove Hallböök, A. Simon Harvey, Hans Holthausen, Yuwu Jiang, Lakshminarayanan Kannan, Kalman A. Katlowitz, Katarzyna Kotulska‐Jóźwiak, Martin Kudr, Matt Lallas, Ahsan Moosa Naduvil Valappil, Sandeep Bhagwan Patil, Tom Pieper, Nicola Specchio, Manjari Tripathi, Lejla Vendegh, Howard Weiner, Jo Wilmshurst, Mary Lou Smith, Elaine Wirrell, ILAE Pediatric Epilepsy Surgery Task Force and Study Group, Fabrice Bartolomei, Juan Carlos Benedetti Isaac, Poodipedi Sarat Chandra, Mary Connoly, Daniel Curry, Vicki Deli‐Peri, Luca De Palma, Nabeel Diab, Petia Dimova, Carolina Munoz Castro, Georg Dorfmüller, Jana Domínguez, Gianluca D'Onofrio, Christin Eltze, Johannes M. Nico Enslin, András Fogarasi, Siby Gopinath, Renzo Guerrini, Giulia Nobile, Masaki Iwasaki, Sita Jayalakshmi, Takayuki Kikuchi, Noritsugu Kunihiro, Paweł Kowalczyk, Niklaus Krayenbühl, Pavel Kršek, Thilo Kalbhenn, Kensuke Kawai, Cassia Maniquis, Wim Otte, María Ángeles Pérez‐Jiménez, Juan Carlos Pérez‐Poveda, Catherine Riney, Jonathan Roth, Sabine Rona, Karl Rössler, Olga Teo, Oana Tarta Arsene, Laura Tassi, Hartlieb Till, T S Dhanya, Catalina Soto Órdenes, Piradee Suwanpakdee, Steffen Syrbe, Nigel Peter Symss, Jay Shetty, Dilşad Türkdoğan, Takehiro Uda, Naotaka Usui, Vrajesh Udani, Jithangi Wanigasinghe, Yi Wang   +98 more
wiley   +1 more source

Morphological signs of connective tissue dysplasia as predictors of frequent post-exercise musculoskeletal disorders. [PDF]

BMC Musculoskelet Disord, 2020
Nikolenko VN, Oganesyan MV, Vovkogon AD, Cao Y, Churganova AA, Zolotareva MA, Achkasov EE, Sankova MV, Rizaeva NA, Sinelnikov MY.   +9 more
europepmc   +1 more source

Development and preclinical evaluation of a hybrid stereoelectroencephalographic–laser depth electrode for magnetic resonance imaging‐guided interstitial thermal therapy in drug‐resistant epilepsy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to design and validate a hybrid depth electrode combining stereoelectroencephalographic (sEEG) recording and magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) under real‐time magnetic resonance thermometry, to streamline the transition from invasive localization to focal ablation in ...
Bertrand Mathon, Karima Mokhtari, Damien Galanaud, Alexandre Carpentier   +3 more
wiley   +1 more source

Respiratory pathology in connective tissue dysplasia (Irterture review) [PDF]

, 2011
This article represents the literature review devoted to a problem of a respiratory pathology at heritable disorders of connective tissue. Historical aspects of the concept connective tissue dysplasia are given, the basic terminological and ...
Вершинина, М. В., Vershinina, M. V.   +1 more
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