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Results 1-10 of 113 (Search time: 0.094 seconds).
Issue DateTitleAuthor(s)
2018Centronuclear myopathy: advances in genetic understanding and potential for future treatmentsZANOTELI, Edmar
2019The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsCRUZ, Pedro M. Rodriguez; COSSINS, Judith; ESTEPHAN, Eduardo de Paula; MUNELL, Francina; SELBY, Kathryn; HIRANO, Michio; MAROOFIN, Reza; MEHRJARDI, Mohammad Yahya Vahidi; CHOW, Gabriel; CARR, Aisling; MANZUR, Adnan; ROBB, Stephanie; MUNOT, Pinki; LIU, Wei Wei; BANKA, Siddharth; FRASER, Harry; GOEDE, Christian De; ZANOTELI, Edmar; REED, Umbertina Conti; SAGE, Abigail; GRATACOS, Margarida; MACAYA, Alfons; DUSL, Marina; SENDEREK, Jan; TOPF, Ana; HOFER, Monika; KNIGHT, Ravi; RAMDAS, Sithara; JAYAWANT, Sandeep; LOCHMUELLER, Hans; PALACE, Jacqueline; BEESON, David
2019Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathyROSS, Jacob A.; LEVY, Yotam; RIPOLONE, Michela; KOLB, Justin S.; TURMAINE, Mark; HOLT, Mark; LINDQVIST, Johan; CLAEYS, Kristl G.; WEIS, Joachim; MONFORTE, Mauro; TASCA, Giorgio; MOGGIO, Maurizio; FIGEAC, Nicolas; ZAMMIT, Peter S.; JUNGBLUTH, Heinz; FIORILLO, Chiara; VISSING, John; WITTING, Nanna; GRANZIER, Henk; ZANOTELI, Edmar; HARDEMAN, Edna C.; WALLGREN-PETTERSSON, Carina; OCHALA, Julien
2013Spinal muscular atrophy due to a ""de novo"" 1.3 Mb deletion: Implication for genetic counselingSILVA, Luciana Rodrigues Jacy da; COLOVATI, Mileny Esbravatti Stephano; COPRERSKI, Bruno; ANDRADE, Carlos Eugenio Fernandez de; ZANOTELI, Edmar; RASKIN, Salmo; OLIVEIRA, Mariana Moyses; MELARAGNO, Maria Isabel; PEREZ, Ana Beatriz Alvarez
2013Duchenne muscular dystrophy and Duane's syndrome: a rare associationPASQUALIN, Livia M. A.; ZANOTELI, Edmar; VELOSO, Marco A. M.; FRIZZO, Silvana K.; RESENDE, Maria B. D.; ABUCHAM-NETO, Julio Z.; POLATI, Mariza; CHADI, Gerson; REED, Umbertina C.
2019Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid ArthritisSILVA, Andre M. S.; ALMEIDA, Hemerli C.; VIANNA, Maria A. A.; COMELLO, Florencia; ZANOTELI, Edmar
2019Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophyWINCKLER, Pablo B.; SILVA, Andre M. S. da; COIMBRA-NETO, Antonio R.; CARVALHO, Elmano; CAVALCANTI, Eduardo B. U.; SOBREIRA, Claudia F. R.; MARRONE, Carlo D.; MACHADO-COSTA, Marcela C.; CARVALHO, Alzira A. S.; FEIO, Raimunda H. F.; RODRIGUES, Cleonisio L.; GONCALVES, Marcus V. M.; TENORIO, Renata B.; MENDONCA, Rodrigo H.; COTTA, Ana; PAINN, Julia F. O.; SILVA, Cynthia Costa e; CRUZ, Camila de Aquino; I, Marjory Bena; BETANCUR, Daniel F. A.; HUSNY, Antonette S. El; SOUZA, Isabel C. N. de; DUARTE, Regina C. B.; REED, Umbertina C.; CHAVES, Marcia L. F.; ZANOTELI, Edmar; JR, Marcondes C. Franca; SAUTE, Jonas A.
2019Reply to ""Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0""MENDONCA, Rodrigo H.; ROCHA, Antonio J.; LOZANO-ARANGO, Andres; DIAZ, Astry B.; CASTIGLIONI, Claudia; SILVA, Andre M. S.; REED, Umbertina C.; KULIKOWSKI, Leslie; PARAMONOV, Ida; CUSCO, Ivon; TIZZANO, Eduardo F.; ZANOTELI, Edmar
2014Predicting the loss of ambulation in Duchenne muscular dystrophyZANOTELI, Edmar
2019Clinical and molecular findings in a cohort of ANO5-related myopathySILVA, Andre M. S.; COIMBRA-NETO, Antonio R.; SOUZA, Paulo Victor S.; WINCKLER, Pablo B.; GONCALVES, Marcus V. M.; CAVALCANTI, Eduardo B. U.; CARVALHO, Alzira A. D. S.; SOBREIRE, Claudia F. D. R.; CAMELO, Clara G.; MENDONCA, Rodrigo D. H.; ESTEPHAN, Eduardo D. P.; REED, Umbertina C.; MACHADO-COSTA, Marcela C.; DOURADO-JUNIOR, Mario E. T.; PEREIRA, Vanessa C.; CRUZEIRO, Marcelo M.; HELITO, Paulo V. P.; AIVAZOGLOU, Lais U.; CAMARGO, Leonardo V. D.; GOMES, Hudson H.; CAMARGO, Amaro J. S. D.; PINTO, Wladimir B. V. D. R.; BADIA, Bruno M. L.; LIBARDI, Luiz H.; YANAGIURA, Mario T.; OLIVEIRA, Acary S. B.; NUCCI, Anamarli; SAUTE, Jonas A. M.; FRANCA-JUNIOR, Marcondes C.; ZANOTELI, Edmar