1. Milestones in genetics of cerebellar ataxias

   • Magdalena Krygier
   • Maria Mazurkiewicz-Bełdzińska

   Review Article Open access 05 July 2021 Pages: 225 - 234

2. Spinocerebellar ataxias (SCAs) caused by common mutations

   • Ulrich Müller

   Review Article Open access 16 August 2021 Pages: 235 - 250

   

3. Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects

   • Clara D. van Karnebeek
   • Ingrid Blydt-Hansen
   • Gabriella A. Horvath

   Original Article 02 July 2021 Pages: 251 - 262

   

4. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

   • Katja Kloth
   • Bernarda Lozic
   • Davor Lessel

   Original Article Open access 03 July 2021 Pages: 263 - 269

   

5. 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 Polavarapu
   • Aradhna Mathur
   • Mohammed Faruq

   Original Article 01 August 2021 Pages: 271 - 285

   

6. Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations

   • Mohamed S. Abdel-Hamid
   • Sahar Sabry
   • Ghada M. H. Abdel-Salam

   Original Article 02 August 2021 Pages: 287 - 295

   

7. Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

   • Antonia Maletzko
   • Jana Key
   • Georg Auburger

   Original Article Open access 03 August 2021 Pages: 297 - 312

   

8. Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic

   • Y. Trakadis
   • A. Accogli
   • K. Tabbane

   Original Article 07 August 2021 Pages: 313 - 322

9. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation

   • Sai Yang
   • Liwen Wu
   • Liming Yang

   Original Article 09 August 2021 Pages: 323 - 332

   

10. NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study

    • Andoni Echaniz-Laguna
    • Cecilia Altuzarra
    • Jon Andoni Urtizberea

    Original Article 17 August 2021 Pages: 333 - 341

    

11. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

    • Juan F. Quesada-Espinosa
    • Lucía Garzón-Lorenzo
    • Jaime Sánchez del Pozo

    Short Communication 23 July 2021 Pages: 343 - 346

    

12. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

    • Chiara Cavestro
    • Celeste Panteghini
    • Valeria Tiranti

    Short Communication Open access 13 August 2021 Pages: 347 - 351

    

13. Increased unfolded protein responses caused by MED17 mutations

    • Takeshi Terabayashi
    • Satoru Hashimoto

    Short Communication 15 August 2021 Pages: 353 - 357

    

14. 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. Štěrbová
    • M. Vlčková
    • Petra Laššuthová

    Short Communication 20 August 2021 Pages: 359 - 364

    

15. Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families

    • Thomas Courtin
    • Christelle Tesson
    • for the French Parkinson’s disease genetics (PDG) group

    Letter to Editor 21 July 2021 Pages: 365 - 366