Anzahl der Publikationen: 5
Zeitschriftenartikel
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
Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kolbel, Heike; Lochmueller, Hanns; Roos, Andreas und Schara, Ulrike
(Dezember 2020):
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
In: Frontiers in Human Neuroscience, Bd. 14, 560860: S. 1-13
[PDF, 857kB]
Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmueller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C. und Straub, Volker
(2020):
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
In: Annals of Clinical and Translational Neurology, Bd. 7, Nr. 5: S. 757-766
Walter, Maggie C.; Reilich, Peter; Thiele, Simone; Schessl, Joachim; Schreiber, Herbert; Reiners, Karlheinz; Kress, Wolfram; Mueller-Reible, Clemens; Vorgerd, Matthias; Urban, Peter; Schrank, Bertold; Deschauer, Marcus; Schlotter-Weigel, Beate; Kohnen, Ralf und Lochmueller, Hanns
(2013):
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
In: Orphanet Journal of Rare Diseases
8:26
[PDF, 3MB]
McNeill, Alisdair; Birchall, Daniel; Straub, Volker; Goldfarb, Lev; Reilich, Peter; Walter, Maggie C.; Schramm, Nicolai; Lochmueller, Hanns und Chinnery, Patrick F.
(2009):
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation.
In: European Neurology, Nr. 3: S. 161-166
[PDF, 198kB]
Diese Liste wurde am
Sat Mar 23 23:46:09 2024 CET
erstellt.