Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy Ines Kapferer-SeebacherQuinten WaisfiszMarjo S. van der Knaap Original Article Open access 08 December 2018 Pages: 1 - 8
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome Nurun Nahar BornaYoshihito KishitaYasushi Okazaki Original Article 03 January 2019 Pages: 9 - 25
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes Ewelina Elert-DobkowskaIwona StepniakAnna Sulek Original Article Open access 19 February 2019 Pages: 27 - 38
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1 Yukiko HataKoji YoshidaNaoki Nishida Short Communication 18 December 2018 Pages: 39 - 43
Clinical and molecular studies in two new cases of ARSACS Ivana RiccaFederica MoraniFilippo Maria Santorelli Short Communication 24 January 2019 Pages: 45 - 49
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy Tsutomu YasudaTakashi MatsukawaShoji Tsuji Letter to Editor 07 January 2019 Pages: 51 - 52
PTCD3 mutations cause Leigh-like rather than Leigh syndrome Josef FinstererCarla A. ScorzaFulvio A. Scorza Letter to Editor 31 January 2019 Pages: 53 - 54
Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues Yuichiro HisatomiKei MurayamaYasushi Okazaki Letter to Editor 21 February 2019 Pages: 55 - 56