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Zeitschrift

neurogenetics

neurogenetics 1/2019

Ausgabe 1/2019

Inhaltsverzeichnis ( 8 Artikel )

08.12.2018 | Original Article | Ausgabe 1/2019 Open Access

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

03.01.2019 | Original Article | Ausgabe 1/2019

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

19.02.2019 | Original Article | Ausgabe 1/2019 Open Access

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

18.12.2018 | Short Communication | Ausgabe 1/2019

Sudden unexpected death with rare compound heterozygous variants in PRICKLE1

Yukiko Hata, Koji Yoshida, Naoki Nishida

24.01.2019 | Short Communication | Ausgabe 1/2019

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

07.01.2019 | Letter to Editor | Ausgabe 1/2019

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

Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji

31.01.2019 | Letter to Editor | Ausgabe 1/2019

PTCD3 mutations cause Leigh-like rather than Leigh syndrome

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

21.02.2019 | Letter to Editor | Ausgabe 1/2019

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

Yuichiro Hisatomi, Kei Murayama, Akira Ohtake, Yasushi Okazaki

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