Issue 1/2022
Content (15 Articles)
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
Maria Rosário Almeida, Inês Elias, Carolina Fernandes, Rita Machado, Orlando Galego, Gustavo Santo
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
Hongzhu Chen, Niu Li, Yufei Xu, Guoqiang Li, Cui Song, Ru-en Yao, Tingting Yu, Jian Wang, Lin Yang
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
Raffaella Brugnoni, Eleonora Canioni, Massimiliano Filosto, Antonella Pini, Paola Tonin, Tommaso Rossi, Carlotta Canavese, Marica Eoli, Gabriele Siciliano, Giuseppe Lauria, Renato Mantegazza, Lorenzo Maggi
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Berardo Rinaldi, Yu-Han Ge, Elena Freri, Arianna Tucci, Tiziana Granata, Margherita Estienne, Jia-Hui Sun, Bénédicte Gérard, Allan Bayat, Stephanie Efthymiou, Cristina Gervasini, Yun Stone Shi, Henry Houlden, Paola Marchisio, Donatella Milani
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
Kun Huang, Qiu-Xiang Li, Hui-Qian Duan, Yue-Bei Luo, Fang-Fang Bi, Huan Yang
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
Ji-You Min, Seo-Jin Park, Eun-Joo Kang, Seung-Yong Hwang, Sung-Hee Han
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
David Brenner, Kathrin Müller, Serena Lattante, Rüstem Yilmaz, Antje Knehr, Axel Freischmidt, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
K. Štěrbová, M. Vlčková, H. Hansíková, V. Sebroňová, L. Sedláčková, P. Pavlíček, P. Laššuthová
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer’s disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages
Masaki Ikeda, Koichi Okamoto, Keiji Suzuki, Masakuni Amari, Eriko Takai, Masamitsu Takatama, Hideaki Yokoo, Shun Ishibashi, Yoshio Ikeda
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants
J. Finsterer
Correction to: Increased unfolded protein responses caused by MED17 mutations
Takeshi Terabayashi, Satoru Hashimoto
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
Ivana Dzinovic, Tereza Serranová, Clement Prouteau, Estelle Colin, Alban Ziegler, Juliane Winkelmann, Robert Jech, Michael Zech
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
Eva López, Carlos Casasnovas, Javier Giménez, Antoni Matilla-Dueñas, Ivelisse Sánchez, Víctor Volpini
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Berardo Rinaldi, Yu‑Han Ge, Elena Freri, Arianna Tucci, Tiziana Granata, Margherita Estienne, Jia‑Hui Sun, Bénédicte Gérard, Allan Bayat, Stephanie Efthymiou, Cristina Gervasini, Yun Stone Shi, Henry Houlden, Paola Marchisio, Donatella Milani