A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 von Takata, R I, Speck Martins, C E, Passosbueno, M R, Abe, K T, Nishimura, A L, Dorvalina Da Silva, M, Monteiro, A, Lima, M I, Kok, F, Zatz, M

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene von Nigro, V, de Sá Moreira, E, Piluso, G, Vainzof, M, Belsito, A, Politano, L, Puca, A A, Passos-Bueno, M R, Zatz, M

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A von Richard, Isabelle, Broux, Odile, Allamand, Valéerie, Fougerousse, Françoise, Chiannilkulchai, Nuchanard, Bourg, Nathalie, Brenguier, Lydie, Devaud, Catherine, Pasturaud, Patricia, Roudaut, Carinne, Hillaire, Dominique, Passos-Bueno, Maria-Rita, Zatz, Mayana, Tischfield, Jay A, Fardeau, Michel, Jackson, Charles E, Cohen, Daniel, Beckmann, Jacques S

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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies von Vainzof, M., Passos-Bueno, M. R., Canovas, M., Moreira, E. S., Pavanello, R. C. M., Marie, S. K., Anderson, L. V. B., Bonnemann, C. G., McNally, E. M., Nigro, V., Kunkel, L. M., Zatz, M.

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The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12 von Moreira, Eloisa S., Vainzof, Mariz, Marie, Sueli K., Sertie, Andrea L., Zatz, Mayana, Passos-Bueno, Maria R.

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Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation von MCNALLY, E. M, PASSOS-BUENO, M. R, KUNKEL, L. M, BÖNNEMANN, C. G, VAINZOF, M, DE SA MOREIRA, E, LIDOV, H. G. W, OTHMANE, K. B, DENTON, P. H, VANCE, J. M, ZATZ, M

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Familial spongiform encephalopathy associated with a novel prion protein gene mutation von Nitrini, Ricardo, Rosemberg, Sergio, Passos-Bueno, Maria Rita, da Silva, Luís S. Teixeira, Iughetti, Paula, Papadopoulos, Maria, Carrilho, Paulo M., Caramelli, Paulo, Albrecht, Steffen, Zatz, Mayana, LeBlanc, Andrea

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Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR L... von Passos-Bueno, M. R., Moreira, E. S., Vainzof, M., Marie, S. K., Zatz, M.

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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E) von Bönnemann, Carsten G., Passos-Bueno, M. Rita, McNally, Elizabeth M., Vainzof, Mariz, Moreira, Eloísa de Sá, Marie, Suely K., Pavanello, Rita C. M., Noguchi, Satoru, Ozawa, Eijiro, Zatz, Mayana, Kunkel, Louis M.

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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? von Zatz, Mayana, Passos-Bueno, Maria Rita, Cerqueira, Antonia, Marie, Suely K., Vainzof, Mariz, Pavanello, Rita C.M.

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A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3 von Sertié, A. L., Quimby, M., Moreira, E. S., Murray, J., Zatz, M., Antonarakis, S. E., Passos-Bueno, M. R.

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High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families von ZATZ, M, MARIE, S. K, PASSOS-BUENO, M. R, VAINZOF, M, CAMIOTTO, S, CERQUEIRA, A, WIJMENGA, C, PADBERG, G, FRANTS, R

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Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy von Zatz, Mayana, Rapaport, Debora, Vainzof, Mariz, Passos-Bueno, Maria Rita, Bortolini, Eliete R., Pavanello, Rita de Cassia M., Peres, Clovis A.

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The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy von Mahjneh, I., Passos-Bueno, M.-R., Zatz, M., Vainzof, M., Marconi, G., Nashef, L., Bashir, R., Bushby, K.

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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families von Passos-Bueno, M R, Moreira, E S, Marie, S K, Bashir, R, Vasquez, L, Love, D R, Vainzof, M, Iughetti, P, Oliveira, J R, Bakker, E, Strachan, T, Bushby, K, Zatz, M

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Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A) von Spencer, Melissa J, Tidball, James G, Anderson, Louise V.B, Bushby, Kate M.D, Harris, John B, Passos-Bueno, M.Rita, Somer, Hannu, Vainzof, Mariz, Zatz, Mayana

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Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families von Zatz, M, Cerqueira, A, Vainzof, M, Passos-Bueno, M R

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A Caucasian Family with the 3271 Mutation in Mitochondrial DNA von Marie, S.K.N., Goto, Y., Passosbueno, M.R., Zatz, M., Carvalho, A.A.S., Carvalho, M., Levy, J.A., Palou, V.B., Campiotto, S., Horai, S., Nonaka, I.

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DIFFERENT MOSAICISM FREQUENCIES FOR PROXIMAL AND DISTAL DUCHENNE MUSCULAR-DYSTROPHY (DMD) MUTATIONS INDICATE DIFFERENCE IN ETIOLOGY AND RECURRENCE RISK von PASSOSBUENO, MR, BAKKER, E, KNEPPERS, ALJ, TAKATA, RI, RAPAPORT, D, DENDUNNEN, JT, ZATZ, M, VANOMMEN, GJB

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Novel point mutations in the dystrophin gene von Sitnik, Roberta, Campiotto, Simone, Vainzof, Mariz, Pavanello, Rita C., Takata, Reinaldo I., Zatz, Mayana, Passos-Bueno, Maria Rita

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