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Entries: 1-3  
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Selected items from the Charcot-Marie-Tooth (CMT) neuropathy score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
Authors: Mannil, Manoj; Solari, Alessandra; Leha, Andreas; Pelayo-Negro, Ana L.; Berciano, José; Schlotter-Weigel, Beate; Walter, Maggie C.; Rautenstrauss, Bernd; Schnizer, Tuuli J.; Schenone, Angelo; Seeman, Pavel; Kadian, Chandini; Schreiber, Olivia; Angarita, Natalia G.; Fabrizi, Gian Maria; Gemignani, Franco; Padua, Luca; Santoro, Lucio; Quattrone, Aldo; Vita, Giuseppe; Calabrese, Daniela; CMT-TRIAAL/CMT-TRAUK Group; Young, Peter; Laurà, Mathilde; Haberlová, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Shy, Michael E.; Reilly, Mary M.; Pareyson, Davide; Sereda, Michael W.
Date of Publication (YYYY-MM-DD): 2014
Title of Journal: Neuromuscular Disorders
Volume: 24
Start Page: 1003
End Page: 1017
Document Type: Article
ID: 695775.0
 
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A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
Authors: Fledrich, Robert; Schlotter-Weigel, Beate; Schnizer, Tuuli J.; Wichert, Sven P.; Stassart, Ruth M.; Meyer zu Hörste, Gerd; Klink, Axel; Weiss, Bernhard G.; Haag, Uwe; Walter, Maggie C.; Rautenstrauss, Bernd; Paulus, Walter; Rossner, Moritz J.; Sereda, Michael W.
Date of Publication (YYYY-MM-DD): 2012-01
Title of Journal: Brain
Volume: 135
Issue / Number: 1
Start Page: 72
End Page: 87
Document Type: Article
ID: 575994.0
 
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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
Authors: Leal, Alejandro; Huehne, Kathrin; Bauer, Finn; Sticht, Heinrich; Berger, Philipp; Suter, Ueli; Morera, Bernal; Del Valle, Gerardo; Lupski, James R.; Ekici, Arif; Pasutto, Francesca; Endele, Sabine; Barrantes, Ramiro; Berghoff, Corinna; Neundörfer, Bernhard; Heuss, Dieter; Dorn, Thomas; Young, Peter; Santolin, Lisa; Uhlmann, Thomas; Meisterernst, Michael; Sereda, Michael; Meyer zu Hörste, Gerd; Nave, Klaus-Armin; Reis, André; Rautenstrauss, Bernd
Date of Publication (YYYY-MM-DD): 2009-10
Title of Journal: Neurogenetics
Volume: 10
Issue / Number: 4
Start Page: 275
End Page: 287
Document Type: Article
ID: 428527.0
 
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Entries: 1-3  
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