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2022
Kozich, Viktor 
ORCID: 0000-0001-5820-5277, Schwahn, Bernd C., Sokolova, Jitka, Krizkova, Michaela, Ditroi, Tamas, Krijt, Jakub ORCID: 0000-0002-1738-654X, Khalil, Youssef ORCID: 0000-0001-9025-3017, Krizek, Tomas, Vaculikova-Fantlova, Tereza, Stiburkova, Blanka, Mills, Philippa, Clayton, Peter, Barvikova, Kristyna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, Garcia-Cazorla, Angeles, Haack, Tobias B., Honzik, Tomas, Jesina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, Rene, Schwarz, Guenter and Nagy, Peter
(2022).
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol., 58.
AMSTERDAM:
ELSEVIER.
ISSN 2213-2317
Menden, Benita, Gutschalk, Alexander, Wunderlich, Gilbert and Haack, Tobias B. (2022). Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia. Mov. Disord., 37 (5). S. 1113 - 1116. HOBOKEN: WILEY. ISSN 1531-8257
Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stoebe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan ORCID: 0000-0002-7416-9568, Schwaibold, Eva M. C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten and Haack, Tobias B.
(2022).
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Neurol.-Genet., 8 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
2019
Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M.
(2019).
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am. J. Hum. Genet., 105 (2).
S. 384 - 395.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605