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Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies 肌肉MRI有助于远端肌病和远端遗传性运动神经病的鉴别诊断 Paya, Maria; Portela, Sofia; Sivera, Rafael; Frasquet, Marina; Mas-estelles, Fernando; Marti, Pilar; Azorin, Inmaculada; Aragon-gawinska, Karolina; Tarrega, Maria; Argente-escrig, Herminia; Vazquez-costa, Juan F.; Vilchez, Roger; Vilchez, Juan J.; Sevilla, Teresa; Muelas, Nuria 分享 收藏
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱 Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan 分享 收藏
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Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies Canos-Verdecho, Angeles; Bermejo, Ara; Castel, Beatriz; Izquierdo, Rosa; Robledo, Ruth; Gallach, Elisa; Sevilla, Teresa; Argente, Pilar; Huertas, Ismael; Peraita-Costa, Isabel; Morales-Suarez-Varela, Maria 分享 收藏
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Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study Lopez, Ines Losada; Gonzalez-Moreno, Juan; Reines, Juan Buades; Sevilla, Teresa; Valle, Fernando Martinez; Davila, Lucia Galan; Beamud, Francisco Munoz; Llona, Jose Eulalio Barcena; Acebal, Manuel Romero; Tarilonte, Patricia; Setaro, Francesca 分享 收藏
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency Seminario, F. De Frutos; Aventin, B. Peiro; Eiros, R.; Freire, J. Limeres; Sevilla, T.; Carbayo, A.; Llongueras, P.; Garcia-Alvarez, A.; Ripoll-Vera, T.; Macias, R.; Vilches, S.; Ruiz-Bustillo, S.; Achaga, X. Arana; Ordas, J. Gayan; Gonzalez-Costello, J. 分享 收藏
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study Davila, Lucia Galan; Valle, Fernando Martinez; Reines, Juan Buades; Gonzalez-Moreno, Juan; Lopez, Ines Losada; Sevilla, Teresa; Beamud, Francisco Munoz; Llona, Jose Eulalio Barcena; Acebal, Manuel Romero; Setaro, Francesca; Primiano, Diana; Tarilonte, Patricia 分享 收藏
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Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease 扩大DRP2-Associated charcot-marie-tooth病的临床范围 Sivera, Rafael; Pelayo-Negro, Ana L.; Jerico, Ivonne; Dominguez-Gonzalez, Cristina; Horga, Alejandro; De Rivera, Francisco J. Rodriguez; Gallardo, Elena; Tembl, Jose Ignacio; Bermejo-Guerrero, Laura; Lorz, Maria Inmaculada Pagola; Azorin, Inmaculada; Cordoba, Marta; Fenollar-Cortes, Maria del Mar; Millet, Elvira; Vilchez, Juan J.; Espinos, Carmen; Apellaniz-Ruiz, Maria; Sevilla, Teresa 分享 收藏
Safety and Efficacy of Nipocalimab in Patients With Generalized Myasthenia Gravis Antozzi, Carlo; Guptill, Jeffrey; Bril, Vera; Gamez, Josep; Meuth, Sven G.; Nowak, Richard J.; Quan, Dianna; Sevilla, Teresa; Jouvin, Marie-Helene; Jin, Jim; Karcher, Keith; Ramchandren, Sindhu; Sun, Hong; Ling, Leona; Zhu, Yaowei; Arroyo, Santiago 分享 收藏
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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain Baviera-Munoz, Raquel; Carretero-Vilarroig, Lidon; Francisco Vazquez-Costa, Juan; Morata-Martinez, Carlos; Campins-Romeu, Marina; Muelas, Nuria; Sastre-Bataller, Isabel; Martinez-Torres, Irene; Perez-Garcia, Julia; Sivera, Rafael; Sevilla, Teresa; Vilchez, Juan J.; Jaijo, Teresa; Espinos, Carmen; Millan, Jose M.; Bataller, Luis; Aller, Elena 分享 收藏
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain de Frutos, Fernando; Ochoa, Juan Pablo; Gomez-Gonzalez, Cristina; Reyes-Leiva, David; Arostegui, Juan, I; Casasnovas, Carlos; Barriales-Villa, Roberto; Sevilla, Teresa; Gonzalez-Lopez, Esther; Ramil, Elvira; Galan, Lucia; Gonzalez-Costello, Jose; Garcia-Alvarez, Ana; Rojas-Garcia, Ricard; Angeles Espinosa, Maria; Garcia-Pavia, Pablo 分享 收藏
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion Poyatos-Garcia, Javier; Marti, Pilar; Liquori, Alessandro; Muelas, Nuria; Pitarch, Inmaculada; Martinez-Dolz, Luis; Rodriguez, Benjamin; Gonzalez-Quereda, Lidia; Damia, Maria; Aller, Elena; Selva-Gimenez, Marta; Vilchez, Roger; Diaz-Manera, Jordi; Alonso-Perez, Jorge; Eulalio Barcena, Jose; Jauregui, Amaia; Gamez, Josep; Angel Aladren, Jesus; Fernandez, Ariadna; Montolio, Marisol; Azorin, Inmaculada; Hervas, David; Casasus, Ana; Nieto, Marisa; Gallano, Pia; Sevilla, Teresa; Jesus Vilchez, Juan 分享 收藏