Milestones in genetics of cerebellar ataxias Magdalena KrygierMaria Mazurkiewicz-Bełdzińska Review Article Open access 05 July 2021 Pages: 225 - 234
Spinocerebellar ataxias (SCAs) caused by common mutations Ulrich Müller Review Article Open access 16 August 2021 Pages: 235 - 250
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects Clara D. van KarnebeekIngrid Blydt-HansenGabriella A. Horvath Original Article 02 July 2021 Pages: 251 - 262
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants Katja KlothBernarda LozicDavor Lessel Original Article Open access 03 July 2021 Pages: 263 - 269
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients Kiran PolavarapuAradhna MathurMohammed Faruq Original Article 01 August 2021 Pages: 271 - 285
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations Mohamed S. Abdel-HamidSahar SabryGhada M. H. Abdel-Salam Original Article 02 August 2021 Pages: 287 - 295
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse Antonia MaletzkoJana KeyGeorg Auburger Original Article Open access 03 August 2021 Pages: 297 - 312
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic Y. TrakadisA. AccogliK. Tabbane Original Article 07 August 2021 Pages: 313 - 322
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation Sai YangLiwen WuLiming Yang Original Article 09 August 2021 Pages: 323 - 332
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study Andoni Echaniz-LagunaCecilia AltuzarraJon Andoni Urtizberea Original Article 17 August 2021 Pages: 333 - 341
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center Juan F. Quesada-EspinosaLucía Garzón-LorenzoJaime Sánchez del Pozo Short Communication 23 July 2021 Pages: 343 - 346
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation Chiara CavestroCeleste PanteghiniValeria Tiranti Short Communication Open access 13 August 2021 Pages: 347 - 351
Increased unfolded protein responses caused by MED17 mutations Takeshi TerabayashiSatoru Hashimoto Short Communication 15 August 2021 Pages: 353 - 357
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review K. ŠtěrbováM. VlčkováPetra Laššuthová Short Communication 20 August 2021 Pages: 359 - 364
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families Thomas CourtinChristelle Tessonfor the French Parkinson’s disease genetics (PDG) group Letter to Editor 21 July 2021 Pages: 365 - 366