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List of works by Mariz Vainzof

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

scientific article published on 18 March 2014

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

scientific article published on 01 December 2005

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

article

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

scientific article published in December 2004

A novel missense mutation in the caveolin-3 gene in rippling muscle disease

scientific article published on 01 August 2007

A preliminary study of serum beta-glucuronidase enzyme activity in progressive muscular dystrophies

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).

scientific article published in March 1997

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

scientific article published on 01 December 1998

Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies

scientific article published on 01 September 1995

Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion

scientific article published on 01 October 1992

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

scientific article published on 10 January 2020

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

scientific article published on 01 March 1995

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

scientific article published on 01 June 1991

Approach to the diagnosis of congenital myopathies

scientific article

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals

scientific article

Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.

scientific article published in May 1994

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

article

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

scientific article

Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D.

scientific article published on 3 December 2014

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

article

Calpainopathy: how broad is the spectrum of clinical variability?

scientific article

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

scientific article published on 01 May 2007

Central nervous system involvement in the animal model of myodystrophy.

scientific article published on 19 March 2013

Characterization of human skeletal muscle Ankrd2

scientific article

Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridization

scientific article published on 01 October 1998

Clinical variability in calpainopathy: what makes the difference?

scientific article

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers

scientific article published on 25 January 2016

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

article

Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency

scientific article published on 01 January 1996

Consensus statement on standard of care for congenital myopathies

scientific article published on March 2012

Deficiency of α-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy

scientific article published on 01 August 1997

Differential expression of genes involved in the degeneration and regeneration pathways in mouse models for muscular dystrophies

scientific article published on 24 February 2012

Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?

scientific article published in January 2000

Dysferlin Protein Analysis in Limb-Girdle Muscular Dystrophies

scientific article published on 01 August 2001

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

scientific article published on 01 September 1990

Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy

scientific article published on 01 December 1988

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

scientific article published on 3 May 2018

Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies

scientific article published on January 1991

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

article

Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.

scientific article published in April 1991

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

scientific article

Familial occurrence of Duchenne dystrophy through paternal lines in four families

scientific article published on 01 January 1991

Faster regeneration associated to high expression of Fam65b and Hdac6 in dysferlin-deficient mouse

scientific article published on 19 June 2019

Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin–glycoprotein complex

article

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

scientific article published on November 1993

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

scientific journal article

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

scientific article published in June 1994

Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

scientific article published on March 2000

Human adipose tissue derived pericytes increase life span in Utrn (tm1Ked) Dmd (mdx) /J mice

scientific article published on 01 December 2014

Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro

scientific article published in April 2008

Human multipotent mesenchymal stromal cells from distinct sources show different in vivo potential to differentiate into muscle cells when injected in dystrophic mice.

scientific article

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

scientific article published on 01 February 1991

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype

scientific article published on 01 October 1993

Is dystrophin always altered in Becker muscular dystrophy patients?

scientific article published on 01 July 1995

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

scientific article published on 01 January 1993

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

scientific article

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

article

LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability

scientific article published on 13 August 2019

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

scientific article published on 01 May 2002

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

scientific article

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

scientific article published in January 1991

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

scientific article

Mazindol and growth hormone inhibition in Duchenne muscular dystrophy

scientific article published on 01 August 1987

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation

scientific article published on June 1999

Metabolic profile of dystrophic mdx mouse muscles analyzed with in vitro magnetic resonance spectroscopy (MRS)

scientific article published on 04 June 2012

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review

scientific article

Mitochondrial respiratory chain and creatine kinase activities in mdx mouse brain

scientific article published in February 2010

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

scientific article published on 6 September 2011

Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G ⬇️

scientific article published on March 12, 2013

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene

scientific article published on 21 July 2008

Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies

scientific article published on 14 August 2019

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

scientific article

Mutations in the caveolin-3 gene: When are they pathogenic?

scientific article (publication date: April 2001)

Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

scientific article

Nebulin expression in patients with nemaline myopathy

scientific article published on 01 March 2001

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

scientific article published on 20 January 2012

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

article

Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine

scientific article published in August 1989

Novel point mutations in the dystrophin gene

scientific article published on 01 January 1997

Oxidative variables and antioxidant enzymes activities in the mdx mouse brain

scientific article published on 12 August 2009

Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

scientific article published on 01 June 2000

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases

scientific article published in July 1998

Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy

scientific article

Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy

scientific article published in September 2004

Quantitative T2 combined with texture analysis of nuclear magnetic resonance images identify different degrees of muscle involvement in three mouse models of muscle dystrophy: mdx, Largemyd and mdx/Largemyd

scientific article

Reduction of acethylcolinesterase activity in the brain of mdx mice

scientific article published on 26 March 2011

Relation between height and clinical course in Duchenne muscular dystrophy ⬇️

scientific article published on February 1, 1988

Renewed avenues through exercise muscle contractility and inflammatory status

scientific article published on 03 May 2012

Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength

scientific article published on 29 July 2008

Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog

scientific article published on 26 November 2009

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

scientific article

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

scientific article published in March 1999

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations

scientific article published on 01 June 2006

Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy

scientific article published on 01 July 1992

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

scientific article published on 01 April 1991

Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families ⬇️

scientific article published on September 1, 1997

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

scientific article published on 01 April 1991

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

scientific article published on 01 February 1999

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

scientific article published in April 1993

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

scientific article

Striatum brain-derived neurotrophic factor levels are decreased in dystrophin-deficient mice.

scientific article published on 5 May 2009

Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice

scientific article

Telethonin protein expression in neuromuscular disorders

scientific article (publication date: 9 October 2002)

The 10 autosomal recessive limb-girdle muscular dystrophies

scientific article

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

scientific article

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

scientific article published in May 1998

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

scientific article published on 01 December 1996

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

scientific article

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

scientific article published on 01 February 2012

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