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Mariz Vainzof
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91
Zatz, Mayana
63
Passos-Bueno, Maria Rita
30
Marie, Suely
28
Pavanello, Rita
15
Moreira, Eloisa
9
Cerqueira, Antonia
8
Reed, Umbertina Conti
7
de Paula, Flavia
6
Bakker, Egbert
6
Zanoteli, Edmar
6
Vieira, Natassia
5
Starling, Alessandra
5
Tsanaclis, Ana Maria
5
Silva, Helga
5
McNally, Elizabeth
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All Publications
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2009: Comim Clarissa M; Cassol-Jr Omar J; Constantino Leandra C; Constantino Larissa S; Petronilho Fabrícia; Tuon Lisiane; Vainzof Mariz; Dal-Pizzol Felipe; Quevedo João
Oxidative variables and antioxidant enzymes activities in the mdx mouse brain.
Neurochemistry international 2009;55(8):802-5.
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2009: Comim Clarissa M; Tuon Lisiane; Stertz Laura; Vainzof Mariz; Kapczinski Flávio; Quevedo João
Striatum brain-derived neurotrophic factor levels are decreased in dystrophin-deficient mice.
Neuroscience letters 2009;459(2):66-8.
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2009: Zanoteli Edmar; Vergani Naja; Campos Yvan; Vainzof Mariz; Oliveira Acary S B; d'Azzo Alessandra
Mitochondrial alterations in dynamin 2-related centronuclear myopathy.
Arquivos de neuro-psiquiatria 2009;67(1):102-4.
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2009: Jazedje Tatiana; Secco Mariane; Vieira Natássia M; Zucconi Eder; Gollop Thomaz R; Vainzof Mariz; Zatz Mayana
Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro.
Journal of translational medicine 2009;7():6.
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2008: Ambrósio C E; Valadares M C; Zucconi E; Cabral R; Pearson P L; Gaiad T P; Canovas M; Vainzof M; Miglino M A; Zatz M
Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength.
Neuromuscular disorders : NMD 2008;18(11):892-3.
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2008: Yamamoto Lydia U; Velloso Fernando J; Lima Bruno L; Fogaça Luciana L Q; de Paula Flávia; Vieira Natássia M; Zatz Mayana; Vainzof Mariz
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2008;56(11):995-1001.
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2008: Vieira Natássia M; Bueno 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
SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression.
Stem cells (Dayton, Ohio) 2008;26(9):2391-8.
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2008: Vieira Natássia M; Brandalise Vanessa; Zucconi Eder; Jazedje Tatiana; Secco Mariane; Nunes Viviane A; Strauss Bryan E; Vainzof Mariz; Zatz Mayana
Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro.
Biology of the cell / under the auspices of the European Cell Biology Organization 2008;100(4):231-41.
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2008: Vainzof Mariz; Ayub-Guerrieri Danielle; Onofre Paula C G; Martins Poliana C M; Lopes Vanessa F; Zilberztajn Dinorah; Maia Lucas S; Sell Karen; Yamamoto Lydia U
Animal models for genetic neuromuscular diseases.
Journal of molecular neuroscience : MN 2008;34(3):241-8.
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2007: Lorenzoni Paulo J; Scola Rosana H; Vieira Natassia; Vainzof Mariz; Carsten Ana L M; Werneck Lineu C
A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
Muscle & nerve 2007;36(2):258-60.
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2007: Schmidt Wolfgang M; Kraus Cornelia; Höger Harald; Hochmeister Sonja; Oberndorfer Felicitas; Branka Manuela; Bingemann Sonja; Lassmann Hans; Müller Markus; Macedo-Souza Lúcia Inês; Vainzof Mariz; Zatz Mayana; Reis André; Bittner Reginald E
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
EMBO reports 2007;8(7):691-7.
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2007: Kossugue Patrícia M; Paim Júlia F; Navarro Monica M; Silva Helga C; Pavanello Rita C M; Gurgel-Giannetti Juliana; Zatz Mayana; Vainzof Mariz
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Muscle & nerve 2007;35(5):670-4.
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2007: Gouveia Telma L F; Kossugue Patrícia M; Paim Julia F; Zatz Mayana; Anderson Louise V B; Nigro Vincenzo; Vainzof Mariz
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.
Journal of molecular medicine (Berlin, Germany) 2007;85(4):415-20.
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2006: Vieira N M; Schlesinger D; de Paula F; Vainzof M; Zatz M
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
Neuromuscular disorders : NMD 2006;16(12):870-3.
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2006: Rozenberg R; Kok F; Burin M G; Sá Miranda M C; Vasques C; Henriques-Souza A M M; Giugliani R; Vainzof Mariz; Pereira L V
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Journal of child neurology 2006;21(6):540-4.
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2006: Gouveia Telma L F; Paim Julia F O; Pavanello Rita C; Zatz Mayana; Vainzof Mariz
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2006;15(2):95-100.
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2005: Starling A; Schlesinger D; Kok F; Passos-Bueno M Rita; Vainzof M; Zatz M
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
Neurology 2005;65(11):1832-3.
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2005: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
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2004: Starling Alessandra; Kok Fernando; Passos-Bueno Maria Rita; Vainzof Mariz; Zatz Mayana
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
European journal of human genetics : EJHG 2004;12(12):1033-40.
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2004: Yamamoto Lydia U; Gollop Thomas R; Naccache Nadyr F; Pavanello Rita C M; Zanoteli Edmar; Zatz Mayana; Vainzof Mariz
Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2004;13(3):167-71.
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2004: Nishimura A L; Mitne-Neto M; Silva H C A; Oliveira J R M; Vainzof M; Zatz M
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.
Journal of medical genetics 2004;41(4):315-20.
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2003: de Paula Flavia; Vieira Natássia; Starling Alessandra; Yamamoto Lydia Uraco; Lima Bruno; de Cássia Pavanello Rita; Vainzof Mariz; Nigro Vincenzo; Zatz Mayana
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
European journal of human genetics : EJHG 2003;11(12):923-30.
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2003: Zatz Mayana; de Paula Flavia; Starling Alessandra; Vainzof Mariz
The 10 autosomal recessive limb-girdle muscular dystrophies.
Neuromuscular disorders : NMD 2003;13(7-8):532-44.
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2003: Vainzof M; de Paula F; Tsanaclis A M; Zatz M
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
Journal of clinical pathology 2003;56(8):624-6.
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2003: Gurgel-Giannetti Juliana; Reed Umbertina C; Marie Sueli K; Zanoteli Edmar; Fireman Moacir A T; Oliveira Acary S B; Werneck Lineu C; Beggs Alan H; Zatz Mayana; Vainzof Mariz
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.
Journal of child neurology 2003;18(3):235-40.
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2003: Zanoteli Edmar; Lotuffo Renato M; Oliveira Acary S B; Beggs Alan H; Canovas Marta; Zatz Mayana; Vainzof Mariz
Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance.
Journal of molecular neuroscience : MN 2003;20(1):39-42.
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2003: Moreira E S; Vainzof M; Suzuki O T; Pavanello R C M; Zatz M; Passos-Bueno M R
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Journal of medical genetics 2003;40(2):E12.
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2003: Starling Alessandra; de Paula Flavia; Silva Helga; Vainzof Mariz; Zatz Mayana
Calpainopathy: how broad is the spectrum of clinical variability?
Journal of molecular neuroscience : MN 2003;21(3):233-6.
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2003: Muniz Viviane P; Silva Helga C A; Tsanaclis Ana Maria C; Vainzof Mariz
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
Journal of molecular neuroscience : MN 2003;21(1):35-42.
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2003: Vainzof Mariz; Passos-Bueno Maria Rita; Zatz Mayana
Immunological methods for the analysis of protein expression in neuromuscular diseases.
Methods in molecular biology (Clifton, N.J.) 2003;217():355-78.
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2002: de Paula Flávia; Vainzof Mariz; Passos-Bueno Maria Rita; de Cássia M Pavanello Rita; Matioli Sergio Russo; V B Anderson Louise; Nigro Vincenzo; Zatz Mayana
Clinical variability in calpainopathy: what makes the difference?
European journal of human genetics : EJHG 2002;10(12):825-32.
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2002: Vainzof Mariz; Moreira Eloisa S; Suzuki Oscar T; Faulkner Georgine; Valle Georgio; Beggs Alan H; Carpen Olli; Ribeiro Alberto F; Zanoteli Edmar; Gurgel-Gianneti Juliana; Tsanaclis Ana Maria; Silva Helga C A; Passos-Bueno Maria Rita; Zatz Mayana
Telethonin protein expression in neuromuscular disorders.
Biochimica et biophysica acta 2002;1588(1):33-40.
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2002: Tonini M M O; Passos-Bueno M R; Cerqueira A; Pavanello R; Vainzof M; Dubowitz V; Zatz M
Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
Neuromuscular disorders : NMD 2002;12(6):554-7.
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2002: Gurgel-Giannetti J; Bang M-L; Reed U; Marie S; Zatz M; Labeit S; Vainzof M
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
Muscle & nerve 2002;25(5):747-52.
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2001: Vainzof M; Anderson L V; McNally E M; Davis D B; Faulkner G; Valle G; Moreira E S; Pavanello R C; Passos-Bueno M R; Zatz M
Dysferlin protein analysis in limb-girdle muscular dystrophies.
Journal of molecular neuroscience : MN 2001;17(1):71-80.
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2001: Pallavicini A; Kojic S; Bean C; Vainzof M; Salamon M; Ievolella C; Bortoletto G; Pacchioni B; Zatz M; Lanfranchi G; Faulkner G; Valle G
Characterization of human skeletal muscle Ankrd2.
Biochemical and biophysical research communications 2001;285(2):378-86.
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2001: de Paula F; Vainzof M; Bernardino A L; McNally E; Kunkel L M; Zatz M
Mutations in the caveolin-3 gene: When are they pathogenic?
American journal of medical genetics 2001;99(4):303-7.
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2001: Gurgel-Giannetti J; Reed U; Bang M L; Pelin K; Donner K; Marie S K; Carvalho M; Fireman M A; Zanoteli E; Oliveira A S; Zatz M; Wallgren-Pettersson C; Labeit S; Vainzof M
Nebulin expression in patients with nemaline myopathy.
Neuromuscular disorders : NMD 2001;11(2):154-62.
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2000: Zatz M; Vainzof M; Passos-Bueno M R
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.
Current opinion in neurology 2000;13(5):511-7.
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2000: Kleinsteuber K; Rocco P; Herrera L; Vainzof M; Birke M E; Yáñez M; Flandes A; Zatz M; de Carvallo P; Avaria M A
[Post exercise myalgias as presentation form of dystrophinopathy]
Revista médica de Chile 2000;128(7):772-7.
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2000: Vainzof M; Moreira E S; Canovas M; Anderson L V; Pavanello R C; Passos-Bueno M R; Zatz M
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
Muscle & nerve 2000;23(6):984-8.
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2000: Rocco P; Vainzof M; Froehner S C; Peters M F; Marie S K; Passos-Bueno M R; Zatz M
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin.
American journal of medical genetics 2000;92(2):122-7.
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2000: Reed U C; Marie S K; Vainzof M; Gobbo L F; Gurgel J E; Carvalho M S; Resende M B; Espíndola A A; Zatz M; Diament A
Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.
Journal of child neurology 2000;15(3):172-8.
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2000: Moreira E S; Wiltshire T J; Faulkner G; Nilforoushan A; Vainzof M; Suzuki O T; Valle G; Reeves R; Zatz M; Passos-Bueno M R; Jenne D E
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
Nature genetics 2000;24(2):163-6.
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2000: Vainzof M; Muniz V P; Tsanaclis A M; Silva H C; Rusticci M S
Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
Genetic testing 2000;4(4):383-6.
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1999: Reed U C; Tsanaclis A M; Vainzof M; Marie S K; Carvalho M S; Roizenblatt J; Pedreira C C; Diament A; Levy J A
Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.
Brain & development 1999;21(4):274-8.
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1999: Vainzof M; Passos-Bueno M R; Pavanello R C; Marie S K; Oliveira A S; Zatz M
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.
Journal of the neurological sciences 1999;164(1):44-9.
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1999: Vainzof M; Moreira E S; Ferraz G; Passos-Bueno M R; Marie S K; Zatz M
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex.
European journal of human genetics : EJHG 1999;7(2):251-4.
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1999: Passos-Bueno M R; Vainzof M; Moreira E S; Zatz M
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
American journal of medical genetics 1999;82(5):392-8.
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1998: Sumita D R; Vainzof M; Campiotto S; Cerqueira A M; Cánovas M; Otto P A; Passos-Bueno M R; Zatz M
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.
American journal of medical genetics 1998;80(4):356-61.
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1998: Moreira E S; Vainzof M; Marie S K; Nigro V; Zatz M; Passos-Bueno M R
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Journal of medical genetics 1998;35(11):951-3.
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1998: Rosenberg C; Navajas L; Vagenas D F; Bakker E; Vainzof M; Passos-Bueno M R; Takata R I; Van Ommen G J; Zatz M; Den Dunnen J T
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization.
Neuromuscular disorders : NMD 1998;8(7):447-52.
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1998: Zatz M; Sumita D; Campiotto S; Canovas M; Cerqueira A; Vainzof M; Passos-Bueno M R
Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.
American journal of medical genetics 1998;78(4):361-5.
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1998: Zatz M; Marie S K; Cerqueira A; Vainzof M; Pavanello R C; Passos-Bueno M R
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
American journal of medical genetics 1998;77(2):155-61.
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1998: McNally E M; de Sá Moreira E; Duggan D J; Bönnemann C G; Lisanti M P; Lidov H G; Vainzof M; Passos-Bueno M R; Hoffman E P; Zatz M; Kunkel L M
Caveolin-3 in muscular dystrophy.
Human molecular genetics 1998;7(5):871-7.
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1997: Zatz M; Cerqueira A; Vainzof M; Passos-Bueno M R
Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families.
Journal of medical genetics 1997;34(9):790-1.
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1997: Vainzof M; Costa C S; Marie S K; Moreira E S; Reed U; Passos-Bueno M R; Beggs A H; Zatz M
Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.
Neuropediatrics 1997;28(4):223-8.
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1997: Moreira E S; Vainzof M; Marie S K; Sertié A L; Zatz M; Passos-Bueno M R
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
American journal of human genetics 1997;61(1):151-9.
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1997: Spencer M J; Tidball J G; Anderson L V; Bushby K M; Harris J B; Passos-Bueno M R; Somer H; Vainzof M; Zatz M
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).
Journal of the neurological sciences 1997;146(2):173-8.
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1997: Sitnik R; Campiotto S; Vainzof M; Pavanello R C; Takata R I; Zatz M; Passos-Bueno M R
Novel point mutations in the dystrophin gene.
Human mutation 1997;10(3):217-22.
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1996: Mahjneh I; Passos-Bueno M R; Zatz M; Vainzof M; Marconi G; Nashef L; Bashir R; Bushby K
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(6):483-90.
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1996: Vainzof M; Passos-Bueno M R; Canovas M; Moreira E S; Pavanello R C; Marie S K; Anderson L V; Bonnemann C G; McNally E M; Nigro V; Kunkel L M; Zatz M
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Human molecular genetics 1996;5(12):1963-9.
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1996: Bönnemann C G; Passos-Bueno M R; McNally E M; Vainzof M; de Sá Moreira E; Marie S K; Pavanello R C; Noguchi S; Ozawa E; Zatz M; Kunkel L M
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Human molecular genetics 1996;5(12):1953-61.
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1996: McNally E M; Passos-Bueno M R; Bönnemann C G; Vainzof M; de Sá Moreira E; Lidov H G; Othmane K B; Denton P H; Vance J M; Zatz M; Kunkel L M
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
American journal of human genetics 1996;59(5):1040-7.
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1996: Nigro V; de Sá Moreira E; Piluso G; Vainzof M; Belsito A; Politano L; Puca A A; Passos-Bueno M R; Zatz M
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
Nature genetics 1996;14(2):195-8.
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1996: Passos-Bueno M R; Moreira E S; Vainzof M; Marie S K; Zatz M
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 LGMD.
Human molecular genetics 1996;5(6):815-20.
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1996: Zatz M; Passos-Bueno M R; Cerqueira A; Vainzof M
CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)
Journal of medical genetics 1996;33(2):173.
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1996: 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
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Journal of medical genetics 1996;33(2):97-102.
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1996: Reed U C; Marie S K; Vainzof M; Salum P B; Levy J A; Zatz M; Diament A
Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency.
Brain & development 1996;18(1):53-8.
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1995: Vainzof M; Marie S K; Reed U C; Schwartzman J S; Pavanello R C; Passos-Bueno M R; Zatz M
Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations.
Neuropediatrics 1995;26(6):293-7.
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1995: Bueno M R; Moreira E S; Vainzof M; Chamberlain J; Marie S K; Pereira L; Akiyama J; Roberds S L; Campbell K P; Zatz M
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Human molecular genetics 1995;4(7):1163-7.
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1995: Vainzof M; Passos-Bueno M R; Pavanello R C; Zatz M
Is dystrophin always altered in Becker muscular dystrophy patients?
Journal of the neurological sciences 1995;131(1):99-104.
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1995: Passos-Bueno M R; Bashir R; Moreira E S; Vainzof M; Marie S K; Vasquez L; Iughetti P; Bakker E; Keers S; Stephenson A
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.
Genomics 1995;27(1):192-5.
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1995: Zatz M; Passos-Bueno M R; Cerqueira A; Marie S K; Vainzof M; Pavanello R C
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
Human molecular genetics 1995;4(3):401-6.
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1995: Passos-Bueno M R; Cerqueira A; Vainzof M; Marie S K; Zatz M
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.
Journal of medical genetics 1995;32(1):14-8.
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1995: Zatz M; Marie S K; Passos-Bueno M R; Vainzof M; Campiotto S; Cerqueira A; Wijmenga C; Padberg G; Frants R
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.
American journal of human genetics 1995;56(1):99-105.
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1994: Passos-Bueno M R; Marie S K; Monteiro M; Neustein I; Whittle M R; Vainzof M; Zatz M
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
American journal of medical genetics 1994;52(2):170-3.
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1994: Passos-Bueno M R; Vainzof M; Marie S K; Zatz M
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.
Human molecular genetics 1994;3(6):919-22.
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1994: Zatz M; Matsumura K; Vainzof M; Passos-Bueno M R; Pavanello R C; Marie S K; Campbell K P
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.
Journal of the neurological sciences 1994;123(1-2):122-8.
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1993: Passos-Bueno M R; Oliveira J R; Bakker E; Anderson R D; Marie S K; Vainzof M; Roberds S; Campbell K P; Zatz M
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
Human molecular genetics 1993;2(11):1945-7.
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1993: Vainzof M; Passos-Bueno M R; Takata R I; Pavanello R de C; Zatz M
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
Journal of the neurological sciences 1993;119(1):38-42.
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1993: Passos-Bueno M R; Wijmenga C; Takata R E; Marie S K; Vainzof M; Pavanello R C; Hewitt J E; Bakker E; Carvalho A; Akiyama J
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
Human molecular genetics 1993;2(5):557-62.
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1993: Passos-Bueno M R; Richard I; Vainzof M; Fougerousse F; Weissenbach J; Broux O; Cohen D; Akiyama J; Marie S K; Carvalho A A
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Journal of medical genetics 1993;30(5):385-7.
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1993: Passos-Bueno M R; Byth B C; Rosenberg S; Takata R I; Bakker E; Beggs A H; Pavanello R C; Vainzof M; Davies K E; Zatz M
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
American journal of medical genetics 1993;46(2):172-5.
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1993: Vainzof M; Nicholson L V; Bulman D E; Tsanaclis A M; Passos-Bueno M R; Pavanello R C; Zatz M
Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers.
Neuromuscular disorders : NMD 1993;3(2):135-40.
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1993: Passos-Bueno M R; Bakker E; Marie S K; Pavanello R C; Vainzof M; Carvalho A A; Cohen D; Beckmann J; Zatz M
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
Human molecular genetics 1993;2(2):201-2.
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1993: Zatz M; Vallada H; Melo M S; Passos-Bueno M R; Vieira A H; Vainzof M; Gill M; Gentil V
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
Journal of medical genetics 1993;30(2):131-4.
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1993: Vainzof M; Takata R I; Passos-Bueno M R; Pavanello R C; Zatz M
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Human molecular genetics 1993;2(1):39-42.
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1992: Vainzof M; Passos-Bueno M R; Rapaport D; Pavanello R C; Zatz M; Bulman D E
Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion.
American journal of medical genetics 1992;44(3):382-4.
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1992: Vainzof M; Passos-Bueno M R; Pavanello R C; Schreiber R; Zatz M
A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.
Journal of medical genetics 1992;29(7):476-9.
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1992: Schreiber R; Passas-Bueno M R; Rapaport D; Pavanello R de C; Vainzof M; Fernandes M E; Zootz M
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy.
Clinica chimica acta; international journal of clinical chemistry 1992;209(1-2):103-4.
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1992: Rapaport D; Passos-Bueno M R; Takata R I; Campiotto S; Eggers S; Vainzof M; Makover A; Nudel U; Yaffe D; Zatz M
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation.
Neuromuscular disorders : NMD 1992;2(2):117-20.
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1992: Zatz M; Pavanello R de C; Vainzof M; Passos-Bueno M R
Steroids in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1992;2(1):59.
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1991: Rapaport D; Passos-Bueno M R; Brandão L; Love D; Vainzof M; Zatz M
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy.
American journal of medical genetics 1991;39(4):437-41.
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1991: Passos-Bueno M R; Vainzof M; Pavanello R de C; Pavanello-Filho I; Lima M A; Zatz M
Limb-girdle syndrome: a genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies.
Journal of the neurological sciences 1991;103(1):65-75.
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1991: Zatz M; Rapaport D; Vainzof M; Passos-Bueno M R; Bortolini E R; Pavanello R de C; Peres C A
Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy.
Journal of the neurological sciences 1991;102(2):190-6.
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1991: Passos-Bueno M R; Byth B; Love D; Terwilliger J; Ott J; Rapaport D; Vainzof M; Zatz M; Davies K E
Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.
Journal of the neurological sciences 1991;102(2):206-8.
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1991: Vainzof M; Pavanello R C; Pavanello-Filho I; Rapaport D; Passos-Bueno M R; Zubrzycka-Gaarn E E; Bulman D E; Zatz M
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.
American journal of medical genetics 1991;39(1):38-41.
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1991: Rapaport D; Colletto G M; Vainzof M; Duaik M C; Zatz M
Short stature in Duchenne muscular dystrophy.
Growth regulation 1991;1(1):11-5.
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1991: Vainzof M; Zubrzycka-Gaarn E E; Rapaport D; Passos-Bueno M R; Pavanello R C; Pavanello-Filho I; Zatz M
Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein.
Journal of the neurological sciences 1991;101(2):141-7.
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1991: Passos-Bueno M R; Terwilliger J; Ott J; Vainzof M; Love D R; Davies K E; Zatz M
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.
American journal of medical genetics 1991;38(1):140-6.
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1991: Zatz M; Passos-Bueno M R; Rapaport D; Vainzof M
Familial occurrence of Duchenne dystrophy through paternal lines in four families.
American journal of medical genetics 1991;38(1):80-4.
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1991: Rapaport D; Colletto G M; Vainzof M; Zatz M
Estimates of genetic and environmental components of serum isocitrate dehydrogenase (ICDH) in normal twins.
Acta geneticae medicae et gemellologiae 1991;40(1):77-82.
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1991: Vainzof M; Pavanello R C; Pavanello I; Tsanaclis A M; Levy J A; Passos-Bueno M R; Rapaport D; Zatz M
Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.
Neuromuscular disorders : NMD 1991;1(3):177-83.
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1990: Vainzof M; Pavanello R C; Pavanello Filho I; Passos-Bueno M R; Rapaport D; Hsi C T; Zatz M
Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study.
Journal of the neurological sciences 1990;98(2-3):221-33.
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1989: Zatz M; Rapaport D; Pavanello R C; Rocha J M; Vainzof M; Nicolau W
Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine.
American journal of medical genetics 1989;33(4):457-67.
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1989: Zatz M; Passos-Bueno M R; Vainzof M; Pavanello R C
Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings.
American journal of medical genetics 1989;32(3):438-41.
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1988: Zatz M; Rapaport D; Vainzof M; Pavanello R de C; Rocha J M; Betti R T; Otto P A
Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy.
American journal of medical genetics 1988;31(4):821-33.
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1988: Zatz M; Rapaport D; Vainzof M; Rocha J M; Pavanello R de C; Colletto G M; Peres C A
Relation between height and clinical course in Duchenne muscular dystrophy.
American journal of medical genetics 1988;29(2):405-10.
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1987: Zatz M; Vainzof M; Rapaport D; da Rocha J M; Pavanello R de C; Betti R T
Mazindol and growth hormone inhibition in Duchenne muscular dystrophy.
American journal of medical genetics 1987;27(4):993-5.
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1985: Vainzof M; Zatz M; Otto P A
Serum CK-MB activity in progressive muscular dystrophy: is it of nosologic value?
American journal of medical genetics 1985;22(1):81-7.
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