Mayana Zatz

Clinical variability in calpainopathy: what makes the difference?

Immunological methods for the analysis of protein expression in neuromuscular diseases.

The 10 autosomal recessive limb-girdle muscular dystrophies.

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

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

[Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances].

Calpains and disease.

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Red-green color vision impairment in Duchenne muscular dystrophy.

Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood.

Contamination of mesenchymal stem-cells with fibroblasts accelerates neurodegeneration in an experimental model of Parkinson's disease.

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

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina.

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.

Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro.

Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice.

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells and .

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts.

Development of a comprehensive noninvasive prenatal test.

Helping our country as women scientists.

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.

A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil.

The Role of Pericytes in Amyotrophic Lateral Sclerosis.

Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β.

Quantitative evaluation of brain volume among elderly individuals in São Paulo, Brazil: a population-based study.

Safety, Tumor Reduction, and Clinical Impact of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors.

Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes.

Structural variation of the malaria-associated human glycophorin A-B-E region.

Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins.

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

Random changepoint segmented regression with smooth transition.

Reply to "Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors".

Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration.

Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization.

Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.

Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes.

Socioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Study.

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.

Soluble factors of mesenchimal stem cells (FS-MSC) as a potential tool to reduce inflammation in donor's lungs after hypovolemic shock.

A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread.

MHC Variants Associated With Symptomatic Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Effect of Serial Systemic and Intratumoral Injections of Oncolytic ZIKV in Mice Bearing Embryonal CNS Tumors.

HLA-G genetic diversity and evolutive aspects in worldwide populations.

Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair.

Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

The 90 plus: longevity and COVID-19 survival.

Psychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional study.

MS-Driven Metabolic Alterations Are Recapitulated in iPSC-Derived Astrocytes.

Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil.

Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report.

The oldest unvaccinated Covid-19 survivors in South America.

MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil.

Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people.

Correction: The oldest unvaccinated Covid-19 survivors in South America.

Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects.

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.

Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19.

Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds.

Corrigendum: Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: a case report.

IFNγ protects motor neurons from oxidative stress via enhanced global protein synthesis in FUS-associated amyotrophic lateral sclerosis.

Dystrophin genetic variants and autism.

ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.

Anti-RBD IgG antibodies from endemic coronaviruses do not protect against the acquisition of SARS-CoV-2 infection among exposed uninfected individuals.

Neuropathological Lesions and Cognitive Abilities in Black and White Older Adults in Brazil.

Immunocompetent Brain Organoids with Microglia Allow Advanced Aging Research.