Results 111 to 120 of about 2,434,436 (249)
Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem +12 morewiley +1 more sourceHeterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi +31 morewiley +1 more sourceADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon +11 morewiley +1 more sourcePatient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective
Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel +24 morewiley +1 more sourceMechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial
Annals of Neurology, EarlyView.Objective
This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.Pierre Seners, Adrien ter Schiphorst, Julien Labreuche, Bertrand Lapergue, Hilde Henon, Nasreddine Nouri, Benjamin Gory, Sébastien Richard, Jean‐François Albucher, Christophe Cognard, Liesjet E.H. van Dokkum, David S. Liebeskind, Tudor G. Jovin, Vincent Costalat, Caroline Arquizan, for the LASTE investigators, Caroline Arquizan, Vincent Costalat, Xavier Ayrignac, Mahmoud Charif, Lucas Corti, Cyril Dargazanli, Imad Derraz, Nicolas Gaillard, Grégory Gascou, Pierre‐Henri Lefevre, Anaïs Lippi, Isabelle Mourand, Pauline Prin, Perrine Schmitt, Florian Savenier, Adrien Ter Schiphorst, Igor Sibon, Gaultier Marnat, Pierre Briau, Florent Gariel, Jean‐Sébastien Liegey, Malgorzata Milnerowicz, Jean Papaxanthos, Lisa Papillon, Sophie Godard, Anne Pasco‐Papon, Alice Corfu, Jean‐Baptiste Girot, Vincent L'Allinec, Alderic Lecluse, Matthias Lamy, Stéphane Velasco, Nadeem Beydoun, Samy Boucebci, Victor Dumas, Cédric Fauche, Jean‐Philippe Neau, Paola Palazzo, Nicolas Raynaud, Emmanuel Houdart, Mikael Mazighi, Agnès Aghetti, Anna Dimitrovic, Alexis Guedon, Peggy Reiner, Olivier Naggara, Guillaume Turc, Wagih Benhassen, Basile Kerleroux, Christine Rodriguez Regent, Frédéric Clarencon, Sonia Alamowitch, Julien Allard, Flore Baronnet, Sophie Crozier, Stephen Delorme, Sandrine Deltour, Gaspard Gerschenfeld, Anne leger, Kevin Premat, Charlotte Rosso, Yves Samson, Eimad Shotar, Laurent Spelle, Christian Denier, Jildaaz Caroff, Vanessa Chalumeau, Olivier Chassin, Sophie Gallas, Léon Ikka, Nicolas Legris, Mariana Sarov Riviere, Laura Venditti, Benjamin Gory, Sébastien Richard, René Anxionnat, Mathieu Bonnerot, Liang Liao, Nolwenn Riou‐Comte, Romain Bourcier, Benoît Guillon, Pierre‐Louis Alexandre, Benjamin Daumas‐Duport, Hubert Desal, Lili Detraz, Cécile Preterre, Valérie Wolff, Raoul Pop, Yannick Bejot, Frédéric Ricolfi, Laura Baptiste, Pierre‐Olivier Comby, Brivael Lemogne, Pierre Thouant, Jean‐Christophe Gentric, Serge Timsit, François‐Mathias Merrien, Lorena Nico, Julien Ognard, Laurina Simoni, Chrysanthi Papagiannaki, Ozlem Ozkul, Aude Triquenot Bagan, Michel Piotin, Michael Obadia, Pierre Seners, Nasreddine Nouri, Hilde Henon, Marie Bodenant, Nicolas Bricout, Barbara Casolla, Nelly Dequatre, Lucie Della Shiava, Maco Pasi, François Caparros, Laurent Puy, Arnaud Karam, Olfa Kaaouana, Kaelig Watel, Giuseppe Scopelliti, Mariam Annan, Grégoire Boulouis, Richard Bibi, Arnaud Bretonniere, Marie Gaudron, Denis Herbreteau, Héloise Ifergan, Kevin Jannot, Elisabeth Molinier, Maco Pasi, Cyril Chivot, Chantal Lamy, Emmanuel Wiener, Audrey Arnoux Courselle, Sandrine Canaple, Elisa Ouin, Charbel Mounayer, Francisco Macian Montoro, Suzana Saleme, Omer Eker, Tae‐Hee Cho, Morgane Laubacher, Roberto Riva, Christophe Cognard, Jean‐François Albucher, Lionel Calviere, Louis Fontaine, Jean‐Marc Olivot, Nicolas Raposo, Alain Viguier, Laurent Suissa, Hervé Brunel, Emilie Doche, Nadia Laksiri, Stephanie Machado, Ophelie Osman, Roxane Peres, Emanuelle Robinet, Caroline Rey, Federico Di Maria, Bertrand Lapergue, Emmanuel Chabert, Anna Ferrier, Elie Lteif, Pere Cardona, Lara Blanca, Helena Quesada, Ana Núñez, Andrés Paipa, Mònica Millán, Alejandro Bustamante, Laura Dorado Bouix, Christopher Calib, Jaime Carbonell, Gema Eugenia García Amor, Garbiñe Ezcurra, Belén Flores, Manuel Gómez Choco, Meritxell Gomis Cortina, María Hernández Pérez, Marina Hernández, Clara Larrañaga, Manuel Domínguez Lizarbe, Marina Martínez, Alex Menéndez Albarracín, Natalia Pérez de la Ossa, Neus Rabaneda, Anna Ramos Pachón, Luis Alejandro Rodríguez, Sara Rubio, Isabel Puig, Daniel Santana l, Adrian Valls, Barbara Yugueros, Denisse Wenger, Arturo Renú, Sergio Amaro, Mircea Balasa, Jose Maria Cabrera, Ángel Chamorro, Estefania Conde, Jose Miguel Contador, Antonio Doncel‐Mariano, Mar Guasp, Laura Llansó, Laura Llull, Gerard Mayà Casalprim, Carmen Montejo, Alejandro Rodríguez, Salvatore Rudilosso, Almudena Sánchez, Daniel Santana, Xabier Urra Nuin, Víctor Augusto Vera Monge, Juan F. Arenillas, Mercedes De Lera, María Esther Ramos, María del Mar Freijo, Garazi Aguirre, Laura Cabral, Irene Díaz, Alejandro Durán Lozano, Alain Luna, Jon Martín, Ana Moreno Estébanez, Walter Sifontes, Iratxe Ugarriza, Elena López‐Cancio, Pedro Vega, Lorena Benavente, Sergio Calleja Puerta, María Castañón Apilánez, Álvaro Criado, David Fuentes, Carmen García‐Cabo, Montserrat González Delgado, Gemma María González, Javier Molina Gil, Davinia Larrosa Campo, Begoña López López, Antía Reguera Acuña, María Rico Santos, Patricia Zunzunegui +258 morewiley +1 more sourceMikrokalsifikasyonların Tanısında Vakum Destekli Stereotaktik Meme Biyopsisi:Üç Yıllık Deneyimlerimiz
Genel Tıp Dergisi, 2013 Amaç: Vakum destekli stereotaktik meme biyopsisi VDSB , günümüzde giderek artan sıklıkla kullanılan, gereksiz eksizyonel biyopsileri önleyebilecek, basit, güvenli, minimal invaziv bir perkütan biyopsi yöntemidir.Mustafa Koplay, Mahmut Çelik, Hasan Erdoğan, Alaaddin Nayman, Ali Sami Kıvrak, Seda Özbek +5 moredoaj
