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Anzahl der Publikationen: 5
Zeitschriftenartikel
Rocha, Maria L.; Dittmayer, Carsten; Uruha, Akinori; Korinth, Dirk; Chaoui, Rabih; Schlembach, Dietmar; Rossi, Rainer; Pelin, Katarina; Suk, Eun Kyung; Schmid, Simone; Goebel, Hans H.; Schuelke, Markus; Stenzel, Werner und Englert, Benjamin
(2021):
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.
In: Neuromuscular Disorders, Bd. 31, Nr. 3: S. 239-245
Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Agnes; Koelbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hubner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmueller, Hanns; Karcagi, Veronika; Kornak, Uwe und Fischer-Zirnsak, Bjoern
(2021):
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 972-986
Koehler, Katrin; Hmida, Dorra; Schlossmann, Jens; Landgraf, Dana; Reisch, Nicole; Schuelke, Markus und Huebner, Angela
(2020):
Homozygous mutation inmurine retrovirus integration site 1gene associated with a non-syndromic form of isolated familial achalasia.
In: Neurogastroenterology and Motility, Bd. 32, Nr. 12, e13923
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509
Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas und Prokisch, Holger
(April 2012):
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
In: Journal of medical genetics, Bd. 49, Nr. 4: S. 277-283
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