Anzahl der Publikationen: 6
2017
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
James, M.; Mayhew, A.; Moat, D.; Eagle, M.; Maron, E.; Gee, R.; Rose, K.; Drogo, B.; Vandevelde, B.; Foy, K.; Thiele, S.; Sanchez-Aguilera Praxedes, M.; Canal, A.; Yajima, H.; Sanjak, M.; Montiel-Morillo, E.; Bello, L.; Alfano, L.; Bushby, K. und Straub, V.
(2017):
Does the performance of upper limb capture functional variations in dysferlinopathy?
In: Neuromuscular Disorders, Bd. 27:
S145-S146
James, M.; Mayhew, A.; Eagle, M.; Lofra, R. Muni; Maron, E.; Gee, R.; Harman, M.; Duong, T.; Vandevelde, B.; Siener, C.; Thiele, S.; Mendez, J.; Canal, A.; Sakamoto, C.; Holsten, S.; Pedrosa-Hernandez, I.; Semplicini, C.; Lowes, L.; Bushby, K. und Straub, V.
(2017):
North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy.
In: Neuromuscular Disorders, Bd. 27:
S145-S145
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
2012
Chaouch, A.; Mueller, J. S.; Guergueltcheva, V.; Muntoni, F.; Bushby, K.; Straub, V.; Palace, J.; Beeson, D.; Abicht, A. und Lochmüller, H.
(2012):
The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome.
In: Journal of neurology, neurosurgery, and psychiatry, Bd. 83, Nr. 3, e1
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