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neurogenetics

Volume 20, Issue 1, March 2019

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1. Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Tác giả

Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk.

2. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Tác giả

Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim.

3. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Tác giả

Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa.

4. Sudden unexpected death with rare compound heterozygous variants in PRICKLE1

Tác giả

Yukiko Hata, Koji Yoshida, Naoki Nishida.

5. Clinical and molecular studies in two new cases of ARSACS

Tác giả

Ivana Ricca, Federica Morani, Giacomo Maria Bacci, Claudia Nesti.

6. Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy

Tác giả

Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji.

7. PTCD3 mutations cause Leigh-like rather than Leigh syndrome

Tác giả

Josef Finsterer, Carla A. Scorza, Fulvio A. Scorza.

8. Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues

Tác giả

Yuichiro Hisatomi, Kei Murayama, Akira Ohtake, Yasushi Okazaki.