תוצאות חיפוש

Neuronal migration disorders: Focus on the cytoskeleton and epilepsy מאת Melissa A. Stouffer, Jeffrey A. Golden, Fiona Francis

קבל טקסט מלא

Hippocampal Abnormalities and Enhanced Excitability in a Murine Model of Human Lissencephaly מאת Mark W. Fleck, Shinji Hirotsune, Michael J. Gambello, Emily Phillips‐Tansey, Gregory Suares, Ronald F. Mervis, Anthony Wynshaw‐Boris, Chris J. McBain

קבל טקסט מלא קבל טקסט מלא

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias מאת Mitsuhiro eKato, Mitsuhiro eKato

קבל טקסט מלא קבל טקסט מלא

Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration מאת Orly Reiner, Urs Albrecht, Michal Gordon, KA Chianese, Chen Khuan Wong, O. Gal-Gerber, Tamar Sapir, LD Siracusa, Arthur M. Buchberg, C. Thomas Caskey

קבל טקסט מלא קבל טקסט מלא

Malformations of cortical development and epilepsy. מאת Richard J. Leventer, Renzo Guerrini, William B. Dobyns

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa מאת Lori S. Sullivan, John R. Heckenlively, Sara J. Bowne, Jianping Zuo, Yoshihide Hayashizaki, Andreas Gal, Michael J. Denton, Chris F. Inglehearn, Susan H. Blanton, Stephen P. Daiger

קבל טקסט מלא

Multiple Dose-Dependent Effects of<i>Lis1</i>on Cerebral Cortical Development מאת Michael J. Gambello, Dawn L. Darling, Jessica Yingling, Teruyuki Tanaka, Joseph G. Gleeson, Anthony Wynshaw‐Boris

קבל טקסט מלא קבל טקסט מלא

A Genetic Animal Model of Human Neocortical Heterotopia Associated with Seizures מאת Kevin M. Lee, Frank Schottler, Jennifer L. Collins, Giuseppe Lanzino, Daniel E. Couture, Anand N. Rao, Ken-ichiro Hiramatsu, Yasunobu Goto, Seung‐Chyul Hong, Hakan Caner, Haruaki Yamamoto, Zong‐Fu Chen, Edward H. Bertram, Stuart S. Berr, Reed A. Omary, Heidi Scrable, Theodore Jackson, John C. Goble, Leonard M. Eisenman

קבל טקסט מלא קבל טקסט מלא

Pathophysiological analyses of cortical malformation using gyrencephalic mammals מאת Kosuke Masuda, Tomohisa Toda, Yohei Shinmyo, Haruka Ebisu, Yoshio Hoshiba, Mayu Wakimoto, Yoshie Ichikawa, Hiroshi Kawasaki

קבל טקסט מלא קבל טקסט מלא

Molecular genetics of human primary microcephaly: an overview מאת Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel Chaudhary, Taha Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussein Algahtani, Mohammad H. Al-Qahtani, Hasan Saleh Jamal

קבל טקסט מלא קבל טקסט מלא

Walker-Warburg syndrome מאת Jiri Vajsar, Harry Schachter

קבל טקסט מלא קבל טקסט מלא

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern מאת Audrey Lacalm, Béatrice Nadaud, Mona Massoud, Audrey Putoux, P. Gaucherand, Laurent Guibaud

קבל טקסט מלא קבל טקסט מלא

The evolving doublecortin (DCX) superfamily מאת Orly Reiner, Frédéric M. Coquelle, Bastian Peter, Talia Levy, Anna Kaplan, Tamar Sapir, Irit Orr, Naama Barkai, Gregor Eichele, Sven Bergmann

קבל טקסט מלא קבל טקסט מלא

Mowat-Wilson syndrome: neurological and molecular study in seven patients מאת José Albino da Paz, Chong Ae Kim, Michael Goossens, Irina Giurgea, Maria Joaquina Marques‐Dias

קבל טקסט מלא קבל טקסט מלא

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1 מאת Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya, Kiyomi Taniguchi, Hiroki Kano, Mamoru Mizuno, Toshiyuki Inazu, Hideyo Mitsuhashi, Seiichiro Takahashi, Makoto Takeuchi, Ralf Herrmann, Volker Straub, Beril Talim, Thomas Voit, Haluk Topaloğlu, Tatsushi Toda, Tamao Endo

קבל טקסט מלא קבל טקסט מלא

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation מאת Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

קבל טקסט מלא

Inactivation of<i>Arx</i>, the Murine Ortholog of the X-Linked Lissencephaly with Ambiguous Genitalia Gene, Leads to Severe Disorganization of the Ventral Telencephalon with Impair... מאת Elena Colombo, Patrick Collombat, Gaia Colasante, Marta Bianchi, Jason E. Long, Ahmed Mansouri, John L.R. Rubenstein, Vania Broccoli

קבל טקסט מלא קבל טקסט מלא

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum מאת Nadia Bahi‐Buisson, Isabelle Souville, Franck J. Fourniol, Aurélie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf‐Nazzal, Marie Hully, Pierre Louis Léger, Caroline Elie, Nathalie Boddaert, Chérif Beldjord, Jamel Chelly, Fiona Francis

קבל טקסט מלא

Presenilin-1 deficiency leads to loss of Cajal–Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly מאת Dieter Hartmann, Bart De Strooper, Paul Säftig

קבל טקסט מלא קבל טקסט מלא

Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency מאת Catherine Coffinier, Sandy Y. Chang, Chika Nobumori, Yiping Tu, Emily Farber, Julia I. Toth, Loren G. Fong, Stephen G. Young

קבל טקסט מלא