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Mariz Vainzof
Mariz Vainzof
Centro de Estudos do Genoma Humano e Células Tronco, IBUSP
E-mail confirmado em usp.br
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Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ...
Nature genetics 14 (2), 195-198, 1996
5471996
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
ES Moreira, TJ Wiltshire, G Faulkner, A Nilforoushan, M Vainzof, ...
Nature genetics 24 (2), 163-166, 2000
4272000
Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular Disorders 24 (2), 97-116, 2014
3202014
Caveolin-3 in muscular dystrophy
EM McNally, E de Sá Moreira, DJ Duggan, CG Bönnemann, MP Lisanti, ...
Human molecular genetics 7 (5), 871-877, 1998
2871998
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
M Vainzof, MR Passos-Bueno, M Canovas, ES Moreira, RCM Pavanello, ...
Human molecular genetics 5 (12), 1963-1969, 1996
2271996
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
EM McNally, MR Passos-Bueno, CG Bönnemann, M Vainzof, ...
American journal of human genetics 59 (5), 1040, 1996
2121996
The 10 autosomal recessive limb-girdle muscular dystrophies
M Zatz, F De Paula, A Starling, M Vainzof
Neuromuscular Disorders 13 (7-8), 532-544, 2003
2022003
Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy
M Zatz, D Rapaport, M Vainzof, MR Passos-Bueno, ER Bortolini, ...
Journal of the neurological sciences 102 (2), 190-196, 1991
1961991
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females
M Zatz, SK Marie, A Cerqueira, M Vainzof, RCM Pavanello, ...
American journal of medical genetics 77 (2), 155-161, 1998
1851998
Consensus statement on standard of care for congenital myopathies
CH Wang, JJ Dowling, K North, MK Schroth, T Sejersen, F Shapiro, ...
Journal of child neurology 27 (3), 363-382, 2012
1822012
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
ES Moreira, M Vainzof, SK Marie, AL Sertie, M Zatz, MR Passos-Bueno
The American Journal of Human Genetics 61 (1), 151-159, 1997
1631997
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
M Zatz, M Vainzof, MR Passos-Bueno
Current opinion in neurology 13 (5), 511-517, 2000
1552000
Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
CG Bönnemann, MR Passos-Bueno, EM McNally, M Vainzof, ES Moreira, ...
Human molecular genetics 5 (12), 1953-1961, 1996
1531996
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.
M Zatz, SK Marie, MR Passos-Bueno, M Vainzof, S Campiotto, ...
American journal of human genetics 56 (1), 99, 1995
1491995
Human multipotent adipose‐derived stem cells restore dystrophin expression of Duchenne skeletal‐muscle cells in vitro
NM Vieira, V Brandalise, E Zucconi, T Jazedje, M Secco, VA Nunes, ...
Biology of the Cell 100 (4), 231-241, 2008
1432008
Animal models for genetic neuromuscular diseases
M Vainzof, D Ayub-Guerrieri, PCG Onofre, PCM Martins, VF Lopes, ...
Journal of Molecular Neuroscience 34, 241-248, 2008
1412008
Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 ( LGMD2F ) and Indicates That …
MR Passos-Bueno, ES Moreira, M Vainzof, SK Marie, M Zatz
Human molecular genetics 5 (6), 815-820, 1996
1361996
Seven autosomal recessive limb‐girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G
MR Passos‐Bueno, M Vainzof, ES Moreira, M Zatz
American journal of medical genetics 82 (5), 392-398, 1999
1341999
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ...
Human molecular genetics 23 (15), 4103-4110, 2014
1262014
Clinical variability in calpainopathy: what makes the difference?
F de Paula, M Vainzof, MR Passos-Bueno, R de Cássia M Pavanello, ...
European Journal of Human Genetics 10 (12), 825-832, 2002
1222002
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