Issue 2/2020
Content (8 Articles)
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
Shan Lin, Liu-Qing Xu, Guo-Rong Xu, Ling-Ling Guo, Bi-Juan Lin, Wan-Jin Chen, Ning Wang, Yi Lin, Jin He
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
Chiara Ticci, Federico Sicca, Anna Ardissone, Enrico Bertini, Valerio Carelli, Daria Diodato, Lidia Di Vito, Massimiliano Filosto, Chiara La Morgia, Costanza Lamperti, Diego Martinelli, Isabella Moroni, Olimpia Musumeci, Daniele Orsucci, Elia Pancheri, Lorenzo Peverelli, Guido Primiano, Anna Rubegni, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Paola Tonin, Antonio Toscano, Michelangelo Mancuso, Filippo M. Santorelli
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams
Peiwei Zhao, Xuehua Peng, Sukun Luo, Yufeng Huang, Li Tan, Jianbo Shao, Xuelian He
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease
Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka-Nowicka, Anna Fogtman, Jarosław Cieśla, Paweł Włodarski, Barbara Żyżyńska-Granica, Mirella Filocamo, Andrea Dardis, Paolo Peruzzo, Małgorzata Bednarska-Makaruk, Marta Koblowska, Agnieszka Ługowska
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, Nicole I. Wolf
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
Matias Morin, Anna-Lena Forst, Paula Pérez-Torre, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Eva García-Galloway, Richard Warth, Jose Luis Lopez-Sendón Moreno, Miguel Angel Moreno-Pelayo
Of cognition and cerebellum in SCA48
Giovanna De Michele, Elena Salvatore, Sirio Cocozza, Alessandro Filla, Filippo M. Santorelli