Issue 4/2020
Content (13 Articles)
An update on the central nervous system manifestations of familial tumor predisposition syndromes
David A. Solomon
An update on the central nervous system manifestations of tuberous sclerosis complex
Jennifer A. Cotter
An update on the central nervous system manifestations of neurofibromatosis type 1
J. Stephen Nix, Jaishri Blakeley, Fausto J. Rodriguez
An update on the CNS manifestations of neurofibromatosis type 2
Shannon Coy, Rumana Rashid, Anat Stemmer-Rachamimov, Sandro Santagata
Correction to: An update on the CNS manifestations of neurofibromatosis type 2
Shannon Coy, Rumana Rashid, Anat Stemmer-Rachamimov, Sandro Santagata
An update on the central nervous system manifestations of Li–Fraumeni syndrome
Brent A. Orr, Michael R. Clay, Emilia M. Pinto, Chimene Kesserwan
An update on the central nervous system manifestations of DICER1 syndrome
Leanne de Kock, John R. Priest, William D. Foulkes, Sanda Alexandrescu
An update on the CNS manifestations of brain tumor polyposis syndromes
Byungjin Kim, Uri Tabori, Cynthia Hawkins
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates
Helen Ling, Ellen Gelpi, Karen Davey, Zane Jaunmuktane, Kin Y. Mok, Edwin Jabbari, Roberto Simone, Lea R’Bibo, Sebastian Brandner, Matthew J. Ellis, Johannes Attems, David Mann, Glenda M. Halliday, S. Al-Sarraj, J. Hedreen, James W. Ironside, Gabor G. Kovacs, E. Kovari, S. Love, Jean Paul G. Vonsattel, Kieren S. J. Allinson, Daniela Hansen, Teisha Bradshaw, Núria Setó-Salvia, Selina Wray, Rohan de Silva, Huw R. Morris, Thomas T. Warner, John Hardy, Janice L. Holton, Tamas Revesz
Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy
Isidro Ferrer, Pol Andrés-Benito, Maria Victoria Zelaya, Maria Elena Erro Aguirre, Margarita Carmona, Karina Ausín, Mercedes Lachén-Montes, Joaquín Fernández-Irigoyen, Enrique Santamaría, José Antonio del Rio
Picalm reduction exacerbates tau pathology in a murine tauopathy model
Kunie Ando, Robert De Decker, Cristina Vergara, Zehra Yilmaz, Salwa Mansour, Valérie Suain, Kristel Sleegers, Marie-Ange de Fisenne, Sarah Houben, Marie-Claude Potier, Charles Duyckaerts, Toshio Watanabe, Luc Buée, Karelle Leroy, Jean-Pierre Brion
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H. Kaya, Jumanah AlSufayan, Laila AlQuait, Aziza Chedrawi, Stefan T. Arold, Dilek Colak, Tahsin Stefan Barakat, Namik Kaya
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome
David Sumerauer, Lenka Krskova, Ales Vicha, Adela Misove, Yasin Mamatjan, Pavla Jencova, Marketa Vlckova, Lucie Slamova, Katerina Vanova, Petr Liby, Jakub Taborsky, Miroslav Koblizek, Radek Klubal, Martin Kyncl, Gelareh Zadeh, Jan Stary, Josef Zamecnik, Vijay Ramaswamy, Michal Zapotocky