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Biology and Biochemistry

D-Index
56
Citations
9273
World Ranking
14626
National Ranking
77

Overview

Mariz Vainzof is affiliated with the Universidade de São Paulo in Brazil. Their research focuses extensively on the intersection of biochemistry, genetics, molecular biology, and medicine, with a significant body of work exploring muscle physiology and disorders.

The scientist's primary fields of study include Biochemistry, Genetics and Molecular Biology, and Medicine. Their research scope covers specialized subfields such as Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Cardiology and Cardiovascular Medicine, and Surgery.

Main topics addressed in their publications comprise:

  • Muscle Physiology and Disorders
  • Genetic Neurodegenerative Diseases
  • Neurogenetic and Muscular Disorders Research
  • Ion channel regulation and function
  • Cardiomyopathy and Myosin Studies
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases

Among the frequent co-authors who collaborate with Mariz Vainzof are:

  • Lucas Santos Souza
  • Juliana Gurgel-Giannetti
  • Helga Cristina Almeida da Silva
  • Pamela Vieira Andrade
  • Joilson Moura dos Santos

The scientist has published extensively in several journals, with notable frequent venues including:

  • Neuromuscular Disorders
  • Genes
  • Neurological Sciences
  • Arquivos de Neuro-Psiquiatria
  • Methods in molecular biology

Recent papers authored or co-authored by Mariz Vainzof include:

  • Sarcoglycanopathies: an update (2021, Neuromuscular Disorders)
  • Manifesting carriers of X-linked myotubular myopathy (2020, Neurology Genetics)
  • Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy (2021, The FASEB Journal)
  • Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms (2022, Genes)
  • A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation (2021, Neuromuscular Disorders)

Best Publications

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

    V. Nigro;E. De Sa Moreira;G. Piluso;M. Vainzof

  • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

    Eloisa S. Moreira;Tim J. Wiltshire;Georgine Faulkner;Antje Nilforoushan

  • Approach to the diagnosis of congenital myopathies

    Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth

  • Caveolin-3 in Muscular Dystrophy

    Elizabeth M. McNally;Elizabeth M. McNally;Eloisa de Sá Moreira;David J. Duggan;Carsten G. Bönnemann

  • The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

    M. Vainzof;M. R. Passos-Bueno;M. Canovas;E. S. Moreira

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

    E. M. Mcnally;M. R. Passos-Bueno;C. G. Bönnemann;M. Vainzof

  • The 10 autosomal recessive limb-girdle muscular dystrophies

    Mayana Zatz;Flavia de Paula;Alessandra Starling;Mariz Vainzof

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

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

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

    Mayana Zatz;Suely K. Marie;Antonia Cerqueira;Mariz Vainzof

  • Consensus statement on standard of care for congenital myopathies.

    Ching H. Wang;James J. Dowling;Kathryn North;Mary K. Schroth

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

    Eloisa S. Moreira;Mariz Vainzof;Sueli K. Marie;Andrea L. Sertie

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

    Mayana Zatz;Mariz Vainzof;Maria Rita Passos-Bueno

  • High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

    M Zatz;Suely Kazue Nagahashi Marie;M R Passos-Bueno;M Vainzof

  • Animal models for genetic neuromuscular diseases.

    Mariz Vainzof;Danielle Ayub-Guerrieri;Paula C. G. Onofre;Poliana C. M. Martins

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

    Carsten G. Bönnemann;Carsten G. Bönnemann;M. Rita Passos-Bueno;Elizabeth M. McNally;Mariz Vainzof

  • 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

    M. R. Passos-Bueno;E. S. Moreira;M. Vainzof;S. K. Marie

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

    Natássia M. Vieira;Vanessa Brandalise;Eder Zucconi;Tatiana Jazedje

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

    Maria Rita Passos-Bueno;Mariz Vainzof;Eloisa S. Moreira;Mayana Zatz

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

    Natássia M. Vieira;Michel S. Naslavsky;Luciana Licinio;Fernando Kok

  • Clinical variability in calpainopathy: What makes the difference?

    de Paula F;Vainzof M;Passos-Bueno Mr;de Cássia M Pavanello R

Frequent Co-Authors

Mayana Zatz
Mayana Zatz Universidade de São Paulo
Maria Rita Passos-Bueno
Maria Rita Passos-Bueno Universidade de São Paulo
Vincenzo Nigro
Vincenzo Nigro University of Campania "Luigi Vanvitelli"
Egbert Bakker
Egbert Bakker Leiden University Medical Center
Elizabeth M. McNally
Elizabeth M. McNally Northwestern University
João Quevedo
João Quevedo The University of Texas Health Science Center at Houston
Louis M. Kunkel
Louis M. Kunkel Boston Children's Hospital
Kathryn N. North
Kathryn N. North University of Melbourne
Kate Bushby
Kate Bushby Newcastle University
Alan H. Beggs
Alan H. Beggs Harvard Medical School

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