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11 p, 1.0 MB Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy / Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Gonzalez-Quereda, L (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bruno, Claudio (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ; Panicucci, Chiara (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ; Alavi, Afagh (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences) ; Nafissi, Shahriar (Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences) ; Nilipour, Yalda (Shahid Beheshti University of Medical Sciences) ; Zanoteli, Edmar (Faculdade de Medicina da Universidade de São Paulo) ; Isihi, Lucas Michielon de Augusto (Faculdade de Medicina da Universidade de São Paulo) ; Melegh, Béla (University of Pecs) ; Hadzsiev, Kinga (University of Pecs) ; Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ; Vílchez, Juan J. (Instituto de Investigación Sanitaria La Fe) ; Dourado, Mario Emilio (Federal University of Rio Grande do Norte) ; Kadem, Naz (University of Health Sciences, Antalya Research and Training Hospital) ; Kutluk, Gultekin (University of Health Sciences, Antalya Research and Training Hospital) ; Umair, Muhammad (University of Management and Technology (UMT)) ; Younus, Muhammad (Peking University) ; Pegorano, Elena (University of Padova) ; Bello, Luca (University of Padova) ; Crawford, Thomas O. (Johns Hopkins University) ; Suárez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ; Töpf, Ana (Newcastle University) ; Guglieri, Michela (Newcastle University) ; Marini-Bettolo, Chiara (Newcastle University and Newcastle Hospitals) ; Gallano, Pia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Straub, Volker (Newcastle University) ; Diaz-Manera, Jordi (Newcastle University) ; Universitat Autònoma de Barcelona
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. [...]
2021 - 10.1093/brain/awab301
Brain, Vol. 145 (september 2021) , p. 596-606  

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