Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

BACKGROUND: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI featu...

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Veröffentlicht in:	JOURNAL OF NEUROLOGY 2023-12, Vol.270 (12), p.5849-5865
Hauptverfasser:	Esteller, Diana, Schiava, Marianela, Villar-Quiles, Rocio-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Perez, Jorge, Olive, Montse, Dominguez-Gonzalez, Cristina, Paradas, Carmen, Velez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pal, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jimenez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J, Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoeser, Benedikt, Fernandez-Torron, Roberto, Lopez de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Diaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E, Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y, Diaz-Manera, Jordi
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Sprache:	eng
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