Distal myopathy due to TCAP variants in four unrelated Chinese patients Xiaoqing LvFei GaoChuanzhu Yan Original Article 06 August 2020 Pages: 1 - 10
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis Hiroya NaruseHiroyuki IshiuraShoji Tsuji Original Article 19 August 2020 Pages: 11 - 17
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding Ilenia MainiEdoardo ErrichielloLivia Garavelli Original Article 20 August 2020 Pages: 19 - 25
Cerebellar dysplasia related to PIK3CA mutation: a three-case series Martina Di StasiGiana IzzoCecilia Parazzini Original Article 08 September 2020 Pages: 27 - 32
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy Xavière LornageMartial MallaretJohann Böhm Original Article 06 January 2021 Pages: 33 - 41
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant Idriss BousquetMuriel BozonAudrey Putoux Original Article 07 January 2021 Pages: 43 - 51
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR Deborah L. StableyJennifer HolbrookMatthew E. R. Butchbach Original Article 07 January 2021 Pages: 53 - 64
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series Luca MagistrelliRoberta CroceLucia Corrado Original Article Open access 20 January 2021 Pages: 65 - 70
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations Jean-Loup MéreauxCristina FiranescuGiovanni Stevanin Original Article Open access 23 January 2021 Pages: 71 - 79
Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency Matthias AmprosiMichael ZechSylvia Boesch Short Communication Open access 24 August 2020 Pages: 81 - 86
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females Marcello ScalaEvelien Zonneveld-HuijssoonPasquale Striano Short Communication 17 September 2020 Pages: 87 - 94
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review Gauthier RemicheIsabelle VandernootLaurence Desmyter Short Communication 04 January 2021 Pages: 95 - 101