Issue 1/2019
Content (8 Articles)
Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk, Peter van Tintelen, Elke R. Gizewski, Rebekka Groebner, Johannes Zschocke, Marjo S. van der Knaap
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome
Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, Yukiko Yatsuka, Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobanska, Jacek Pilch, Dorota Antczak-Marach, Jacek Zaremba, Anna Sulek
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
Yukiko Hata, Koji Yoshida, Naoki Nishida
Clinical and molecular studies in two new cases of ARSACS
Ivana Ricca, Federica Morani, Giacomo Maria Bacci, Claudia Nesti, Roberto Caputo, Alessandra Tessa, Filippo Maria Santorelli
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy
Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
PTCD3 mutations cause Leigh-like rather than Leigh syndrome
Josef Finsterer, Carla A. Scorza, Fulvio A. Scorza
Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues
Yuichiro Hisatomi, Kei Murayama, Akira Ohtake, Yasushi Okazaki