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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 5
Zeitschriftenartikel
Brozkova, D. Safka; Stojkovic, T.; Haberlova, J.; Mazanec, R.; Windhager, R.; Rosenegger, P. Fernandes; Hacker, S.; Zuchner, S.; Kochanski, A.; Leonard-Louis, S.; Francou, B.; Latour, P.; Senderek, J.; Seeman, P. und Auer-Grumbach, M.
(2020):
Demyelinating Charcot-Marie-Tooth neuropathy associated withFBLN5mutations.
In: European Journal of Neurology, Bd. 27, Nr. 12: S. 2568-2574
Fernandez-Torron, R.; James, M.; Diaz Manera, J.; Mayhew, A.; Llauger Rosello, J.; Moore, U.; Smith, F.; Jacobs, M.; Carlier, P.; Rufibach, L.; Spuler, S.; Day, J. W.; Jones, K. J.; Bharucha-Göbel, D. X.; Salort-Campana, E.; Pestronk, A.; Walter, M. C.; Paradas, C.; Stojkovic, T.; Takeda, S.; Bravver, E.; Pegoraro, E.; Mendell, J. R.; Bushby, K. und Straub, V.
(2017):
Functional outcome measures and muscle MRI pattern recognition in dysferlinopathy: The JAIN COS Study.
In: European Journal of Neurology, Bd. 24: S. 96-97
James, M.; Jacobs, M.; Mayhew, A.; Feng, J.; Spuler, S.; Day, J.; Jones, K.; Bharucha-Göbel, D.; Salort-Campana, E.; Pestronk, A.; Walter, M.; Paradas, C.; Stojkovic, T.; Mori-Yoshimura, M.; Bravver, E.; Diaz-Manera, J.; Pegoraro, E.; Mendell, J.; Bushby, K. und Straub, V.
(2017):
Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?
In: Neuromuscular Disorders, Bd. 27:
S227-S227
Palmio, J.; Leonard, S.; Sacconi, S.; Savarese, M.; Semmler, A.; Bach, J.; Kress, W.; Mozaffar, T.; Lai, T.; Stojkovic, T.; Schoser, B.; Walter, M.; Reisin, R.; Berardo, A.; Attarian, S.; Urtizberea, A.; Fatehi, F.; Hackman, P. und Udd, B.
(2017):
Expanding importance of HMERF titinopathy: new mutations and clinical aspects.
In: Neuromuscular Disorders, Bd. 27:
S237-S237
Torron, R. Fernandez; Harris, E.; Bourke, J.; Bettinson, K.; Hilsden, H.; Spuler, S.; Day, J.; Jones, K.; Bharucha-Göbel, D.; Salort-Campana, E.; Pestronk, A.; Walter, M.; Paradas, C.; Stojkovic, T.; Mori-Yoshimura, M.; Bravver, E.; Diaz-Manera, J.; Pegoraro, E.; Mendell, J.; Bushby, K. und Straub, V.
(2017):
Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy.
In: Neuromuscular Disorders, Bd. 27:
S145-S145