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EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia Kyriakides, T.; Aleksovska, K.; Angelini, C.; Argov, Z.; Claeys, K.G.; de Visser, M.; FIlosto, M.; Jovanovic, I.; Kostera-Pruszczyk, A.; Molnar, M.J.; et al. EAN 2024关于寡/无症状高肌酸激酶血症诊断方法的指南。Eur. J. Neurol. 2026, 33, e70493. [Google Scholar] [CrossRef] [PubMed] T. Kyriakides; K. Aleksovska; C. Angelini; Z. Argov; K. G. Claeys; M. de Visser; M. FIlosto; I. Jovanovic; A. Kostera-Pruszczyk; M. J. Molnar; S. Sacconi; J. Schaefer; G. Siciliano; J. J. Vilchez; B. Schoser; A. Toscano 分享 收藏
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The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy 整合素β1D错位在Calpain 3相关 limb-girdle 肌营养不良病理生理学中的作用 Valls, Andrea; Ruiz-Roldan, Cristina; Immanuel, Jenita; Alonso-Martin, Sonia; Gallardo, Eduard; Fernandez-Torron, Roberto; Bonilla, Mario; Lersundi, Ana; Hernandez-Lain, Aurelio; Dominguez-Gonzalez, Cristina; Vilchez, Juan Jesus; Iruzubieta, Pablo; de Munain, Adolfo Lopez; Saenz, Amets 分享 收藏
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AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action Cerro-Herreros, Estefania; Nunez-Manchon, Judit; Naldaiz-Gastesi, Neia; Carrascosa-Saez, Marc; Garcia-Rey, Andrea; Losilla, Diego Piqueras; Gonzalez-Martinez, Irene; Espinosa-Espinosa, Jorge; Moreno, Kevin; Poyatos-Garcia, Javier; Vilchez, Juan J.; de Munain, Adolfo Lopez; Suelves, Monica; Nogales-Gadea, Gisela; Llamusi, Beatriz; Artero, Ruben 分享 收藏
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement Johari, Mridul; Topf, Ana; Folland, Chiara; Duff, Jennifer; Dofash, Lein; Marti, Pilar; Robertson, Thomas; Vilchez, Juan; Cairns, Anita; Harris, Elizabeth; Marini-Bettolo, Chiara; Hundallah, Khalid; Alhashem, Amal M.; Al-Owain, Mohammed; Maroofian, Reza; Ravenscroft, Gianina; Straub, Volker 分享 收藏
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
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy Vamorolone在Duchenne肌营养不良症男孩中48周的疗效和安全性 Dang, Utkarsh J.; Damsker, Jesse M.; Guglieri, Michela; Clemens, Paula R.; Perlman, Seth J.; Smith, Edward C.; Horrocks, Iain; Finkel, Richard S.; Mah, Jean K.; Deconinck, Nicolas; Goemans, Nathalie M.; Haberlova, Jana; Straub, Volker; Mengle-Gaw, Laurel; Schwartz, Benjamin D.; Harper, Amy; Shieh, Perry B.; De Waele, Liesbeth; Castro, Diana; Yang, Michele L.; Ryan, Monique M.; McDonald, Craig M.; Tulinius, Mar; Webster, Richard I.; Mcmillan, Hugh J.; Kuntz, Nancy; Rao, Vamshi K.; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M.; Selby, Kathryn A.; Monduy, Migvis; Nevo, Yoram; Vilchez, Juan J.; Nascimento-Osorio, Andres; Niks, Erik H.; De Groot, Imelda J. M.; Katsalouli, Marina; van den Anker, John N.; Ward, Leanne M.; Leinonen, Mika; D'Alessandro, Andrea L.; Hoffman, Eric P. 分享 收藏
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker 分享 收藏
Human skeletal myopathy myosin mutations disrupt myosin head sequestration Carrington, Glenn; Hau, Abbi; Kosta, Sarah; Dugdale, Hannah F.; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter; Romero, Norma B.; Malfatti, Edoardo; Vilchez, Juan Jesus; Oldfors, Anders; Pajusalu, Sander; Ounap, Katrin; Giralt-Pujol, Marta; Zanoteli, Edmar; Campbell, Kenneth S.; Iwamoto, Hiroyuki; Peckham, Michelle; Ochala, Julien 分享 收藏
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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy Ranu, Natasha; Laitila, Jenni; Dugdale, Hannah F.; Mariano, Jennifer; Kolb, Justin S.; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Fiorillo, Chiara; Zanoteli, Edmar; Auranen, Mari; Jokela, Manu; Tasca, Giorgio; Claeys, Kristl G.; Voermans, Nicol C.; Palmio, Johanna; Huovinen, Sanna; Moggio, Maurizio; Beck, Thomas Nyegaard; Kontrogianni-Konstantopoulos, Aikaterini; Granzier, Henk; Ochala, Julien 分享 收藏
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
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
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy Argente-Escrig, Herminia; Vilchez, Juan J.; Frasquet, Marina; Muelas, Nuria; Azorin, Inmaculada; Vilchez, Roger; Millet-Sancho, Elvira; Pitarch, Inmaculada; Tomas-Vila, Miguel; Vazquez-Costa, Juan F.; Mas-Estelles, Fernando; Marco-Marin, Clara; Espinos, Carmen; Serrano-Lorenzo, Pablo; Martin, Miguel A.; Lupo, Vincenzo; Sevilla, Teresa 分享 收藏
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy Cerro-Herreros, Estefania; Gonzalez-Martinez, Irene; Moreno, Nerea; Espinosa-Espinosa, Jorge; Fernandez-Costa, Juan M.; Colom-Rodrigo, Anna; Overby, Sarah J.; Seoane-Miraz, David; Poyatos-Garcia, Javier; Vilchez, Juan J.; de Munain, Adolfo Lopez; Varela, Miguel A.; Wood, Matthew J.; Perez-Alonso, Manuel; Llamusi, Beatriz; Artero, Ruben 分享 收藏
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations Baviera-Munoz, Raquel; Campins-Romeu, Marina; Carretero-Vilarroig, Lidon; Sastre-Bataller, Isabel; Martinez-Torres, Irene; Vazquez-Costa, Juan F.; Muelas, Nuria; Sevilla, Teresa; Vilchez, Juan J.; Aller, Elena; Jaijo, Teresa; Bataller, Luis; Espinos, Carmen 分享 收藏
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bruno, Claudio; Panicucci, Chiara; Alavi, Afagh; Nafissi, Shahriar; Nilipour, Yalda; Zanoteli, Edmar; de Augusto Isihi, Lucas Michielon; Melegh, Bela; Hadzsiev, Kinga; Muelas, Nuria; Vilchez, Juan J.; Dourado, Mario Emilio; Kadem, Naz; Kutluk, Gultekin; Umair, Muhammad; Younus, Muhammad; Pegorano, Elena; Bello, Luca; Crawford, Thomas O.; Suarez-Calvet, Xavier; Topf, Ana; Guglieri, Michela; Marini-Bettolo, Chiara; Gallano, Pia; Straub, Volker; Diaz-Manera, Jordi 分享 收藏
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