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Mariz Vainzof

Harvard University

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Neurology | 2005

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Alessandra Starling; David Schlesinger; Fernando Kok; M. Rita Passos-Bueno; Mariz Vainzof; Mayana Zatz

The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote for CAPN3 mutations (calpainopathy) and the others have a single CAPN3 mutation. Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome). This illustrates the variable phenotype of XK mutations and suggests the possibility that CAPN3 heterozygotes may have their condition caused by nonallelic mutations in other unrelated genes.

American Journal of Human Genetics | 1996

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Elizabeth M. McNally; Maria Rita Passos-Bueno; C. G. Bönnemann; Mariz Vainzof; E. De Sa Moreira; Hart G.W. Lidov; K. B. Othmane; P. H. Denton; J. M. Vance; Mayana Zatz; Louis M. Kunkel

Human Molecular Genetics | 1996

Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

Carsten G. Bönnemann; M. Rita Passos-Bueno; Elizabeth M. McNally; Mariz Vainzof; Eloisa S. Moreira; Suely Kazue Nagahashi Marie; Rita C.M. Pavanello; S. Noguchi; Eijiro Ozawa; Mayana Zatz; Louis M. Kunkel

Human Molecular Genetics | 1994

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy

Maria Rita Passos-Bueno; Mariz Vainzof; Suely Kazue Nagahashi Marie; Mayana Zatz

Human Molecular Genetics | 1993

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

Mariz Vainzof; R.I. Takata; Maria Rita Passos-Bueno; Rita C.M. Pavanello; Mayana Zatz

Human Molecular Genetics | 1993

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families

Maria Rita Passos-Bueno; Egbert Bakker; S.K.N. Marie; Rita C.M. Pavanello; Mariz Vainzof; A.A. Carvalho; Daniel Cohen; Jacques S. Beckmann; Mayana Zatz

Revista de Terapia Ocupacional da Universidade de São Paulo | 2002

Caracterização da passagem da postura de bipedestação para a de sedestação no solo, em crianças portadoras de Distrofia Muscular de Duchenne

Giselle Arima Santos; Fátima Aparecida Caromano; Mariz Vainzof; Mayanna Zatz

Archive | 2006

Modelos animais para doenças neuromusculares humanas Animal models for human neuromuscular diseases

Mariz Vainzof; Patrícia M. Kossugue; Danielle Ayub; P.C.G. Onofre; Dinorah Zilberztajn; Karen Sell; L.U. Yamamoto; Lucas S. Maia; Mayana Zatz; Helga Ca Silva; Carlos Eduardo Ambrósio; José Xavier Neto

Archive | 2002

CARACTERIZAÇÃO DA PASSAGEM DA POSTURA DE BIPEDESTAÇÃO PARA A DE SEDESTAÇÃO NO SOLO, EM CRIANÇAS PORTADORAS DE DISTROFIA MUSCULAR DE DUCHENNE CARACTERIZATION OF THE TRANSFERENCE OF POSTURE FROM ORTHOSTATISM TO SITTING ON THE FLOOR IN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY

Giselle Arima Santos; Fátima Aparecida Caromano; Mariz Vainzof; Mayana Zatz

Ciênc. cult. (Säo Paulo) | 1993

The impact of molecular biology for the understanding and prevention of hereditary myopathies in the Brazilian population

Mayana Zatz; Mariz Vainzof; Maria-Rita Passos-Bueno

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Mayana Zatz

University of São Paulo

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Rita C.M. Pavanello

University of São Paulo

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Maria Rita Passos-Bueno

University of São Paulo

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Debora Rapaport

University of São Paulo

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Maria Rita Passos Bueno

University of São Paulo

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Elizabeth M. McNally

Northwestern University

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Louis M. Kunkel

Boston Children's Hospital

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Fátima Aparecida Caromano

University of São Paulo

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Giselle Arima Santos

University of São Paulo

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Suely Kazue Nagahashi Marie

University of São Paulo

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