NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype Maria Rosário AlmeidaInês EliasGustavo Santo Original Article 01 December 2021 Pages: 1 - 9
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype Hongzhu ChenNiu LiLin Yang Original Article 30 October 2021 Pages: 11 - 17
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes Raffaella BrugnoniEleonora CanioniLorenzo Maggi Original Article 05 October 2021 Pages: 19 - 25
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Berardo RinaldiYu-Han GeDonatella Milani Original Article Open access 03 November 2021 Pages: 27 - 35
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center Kun HuangQiu-Xiang LiHuan Yang Original Article 04 January 2022 Pages: 37 - 44
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study Ji-You MinSeo-Jin ParkSung-Hee Han Original Article 06 November 2021 Pages: 45 - 58
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees David BrennerKathrin MüllerJochen H. Weishaupt Original Article Open access 13 September 2021 Pages: 59 - 65
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer K. ŠtěrbováM. VlčkováP. Laššuthová Letter to Editor 27 November 2021 Pages: 67 - 68
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 IkedaKoichi OkamotoYoshio Ikeda Letter to Editor 02 October 2021 Pages: 69 - 71
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants J. Finsterer Letter to Editor 15 November 2021 Pages: 73 - 74
Correction to: Increased unfolded protein responses caused by MED17 mutations Takeshi TerabayashiSatoru Hashimoto Correction 13 September 2021 Pages: 75 - 76
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant Ivana DzinovicTereza SerranováMichael Zech Correction 03 December 2021 Pages: 77 - 77
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia Eva LópezCarlos CasasnovasVíctor Volpini Correction 10 November 2021 Pages: 79 - 79
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Berardo RinaldiYu‑Han GeDonatella Milani Correction Open access 27 November 2021 Pages: 81 - 81
