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SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression

Vieira, Natassia M.; Bueno Junior, Carlos R.; Brandalise, Vanessa; Moraes, Luciana V.; Zucconi, Eder; Secco, Mariane; Suzuki, Miriam F.; Camargo, Maristela M.; Bartolini, Paolo; Brum, Patricia C.; Vainzof, Mariz; Zatz, Mayana (ALPHAMED PRESS, 2008)

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle caused by the absence of or defective muscular proteins. The murine model for ...

Human Multipotent Mesenchymal Stromal Cells from Distinct Sources Show Different In Vivo Potential to Differentiate into Muscle Cells When Injected in Dystrophic Mice

VIEIRA, N. M.; ZUCCONI, E.; BUENO JR., C. R.; SECCO, M.; SUZUKI, M. F.; BARTOLINI, P.; VAINZOF, M.; ZATZ, M. (SPRINGER HEIDELBERG, 2010)

Limb-girdle muscular dystrophies are a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle caused by the absence or deficiency of muscle proteins. The murine model of Limb-Girdle ...

MAPPING OF A CHROMOSOME-15 REGION INVOLVED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY

FOUGEROUSSE, F; BROUX, O; RICHARD, I; ALLAMAND, V; DESOUZA, AP; BOURG, N; BRENGUIER, L; DEVAUD, C; PASTURAUD, P; ROUDAUT, C; CHIANNILKULCHAI, N; HILLAIRE, D; BUI, H; CHUMAKOV, I; WEISSENBACH, J; CHERIF, D; COHEN, D; BECKMANN, JS (Oxford Univ Press United KingdomOxfordInglaterra, 1994)

Multi-minicore Disease Revisited.

Nucci, Anamarli; Queiroz, Luciano S; Zambelli, Helder J L; Martins Filho, José (2004)

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Vieira, Natassia Moreira da Silva; Naslavsky, Michel Satya; Matos, Luciana Licinio; Kok, Fernando; Schlesinger, David; Vainzof, Mariz; Sanchez, Nury; Kitajima, João Paulo; Gal, Lihi; Cavaçana, Natale; Serafini, Peter; Chuartzman, Silvia; Vasquez, Cristina; Mimbacas, Adriana; Nigro, Vincenzo; Pavanello, Rita; Schuldiner, Maya; Kunkel, Louis M; Zatz, Mayana (Oxford, 2014-03-30)

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with ...

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

FERREIRA, Ana F. B.; CARVALHO, Mary S.; RESENDE, Maria Bernadete D.; WAKAMATSU, Alda; REED, Umbertina Conti; MARIE, Suely Kazue Nagahashi (Faculdade de Medicina / USP, 2011)

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of ...

Muscle Protein Alterations in LGMD21 Patients With Different Mutations in the Fukutin-related Protein Gene

YAMAMOTO, Lydia U.; VELLOSO, Fernando J.; LIMA, Bruno L.; FOGACA, Luciana L. Q.; PAULA, Flavia de; VIEIRA, Natassia M.; ZATZ, Mayana; VAINZOF, Mariz (HISTOCHEMICAL SOC INC, 2008)

Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder ...

Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes

Oliveira, Acary Souza Bulle; Schmidt, Beny; Ferreira Neto, Armando; Kiyomoto, Beatriz Hitomi; Gabbai, Alberto Alain; Lima, J. G. Camargo (Academia Brasileira de Neurologia - ABNEURO, 1991-06-01)

A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All ...

Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort

Luce, Leonela Natalia; Carcione, María Micaela; Mazzanti, Chiara; Ferrer, Marcela Maria; Szijan, Irene; Giliberto, Florencia (Pergamon-Elsevier Science Ltd, 2018-12)

Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...

Mutaciones patogénicas en el gen CAPN3 en pacientes con fenotipo inespecífico de LGMD2

Trangulao Espinosa, Alejandra Irene (Universidad de Chile, 2018)

Las distrofias de cintura (LGMD) son un grupo de distrofias musculares caracterizadas por presentar un deterioro progresivo de los músculos de las cinturas escapular, pélvica y proximales de las extremidades. La LGMD2A es ...