Monize Lazar

Universidade de São Paulo

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Mayana Zatz

Universidade de São Paulo

Mariz Vainzof

Universidade de São Paulo

Guilherme Lopes Yamamoto

Universidade de São Paulo

Rita C.M. Pavanello

Universidade de São Paulo

Juliana Gurgel‐Giannetti

Universidade Federal de Minas Gerais

Maria Rita Passos‐Bueno

Universidade de São Paulo

Mayana Zatz

Universidade de São Paulo

Michel Satya Naslavsky

Universidade de São Paulo

Letícia Nogueira

Universidade de São Paulo

Débora Romeo Bertola

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Cooperative Institutions

Universidade de São Paulo

Universidade Federal de São Paulo

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Instituto Biológico

Universidade Federal de Minas Gerais

Universidade Estadual Paulista (Unesp)

Universidade Estadual de Campinas (UNICAMP)

Hospital Israelita Albert Einstein

Hospital São Paulo

Universidade Brasil

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Maxillary Meningioma Appearing as Exophthalmos

Archives of Otolaryngology - Head and Neck Surgery (1981)

Victor Godel Y. Samuel E. Shanon I Rieder-Grosswasser Arif Bahar

• A maxillary meningioma occurred in the left eyeball of a 17-year-old boy whose only initial complaint was a proptosis of the left eyeball. Striking clinical, radiologic, and pathologic correlations were found in this case. Medical specialists should be aware of the histogenesis and the nature of such ectopic meningiomas. ( Arch Otolaryngol 1981;107:626-628)

Exophthalmos

10.1001/archotol.1981.00790460038012

Cite

Citations (12)

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Neuromuscular Disorders (2014)

Mayana Zatz Rita C.M. Pavanello Monize Lazar Guilherme Lopes Yamamoto Naila Cristina Vilaça Lourenço

Nonsense mutation

mdx mouse

10.1016/j.nmd.2014.06.003

Cite

Citations (4)

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Research in autism spectrum disorders (2016)

Eloísa S. Moreira Isabela Mayá Wayhs Silva Naila Cristina Vilaça Lourenço Danielle P. Moreira Cintia Marques Ribeiro

Comparative genomic hybridization

Proband

SNP array

Candidate gene

10.1016/j.rasd.2015.12.012

Cite

Citations (12)

P1.63 How to deal with unexpected mutations in healthy persons

Neuromuscular Disorders (2011)

Mayana Zatz Rita C.M. Pavanello Monize Lazar Kátia M. Rocha Vanessa Takahashi

Southern blot

Immunofluorescence

10.1016/j.nmd.2011.06.823

Cite

Citations (0)

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

Human Molecular Genetics (2011)

Miguel Mitne‐Neto Marcela Câmara Machado‐Costa Maria C. Marchetto Mário Henrique Bengtson Claudio A.P. Joazeiro

Amyotrophic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a profound loss of life quality and premature death. Around 10% of the cases are inherited and ALS8 is an autosomal dominant form of familial ALS caused by mutations in the vamp-associated protein B/C (VAPB) gene. The VAPB protein is involved in many cellular processes and it likely contributes to the pathogenesis of other forms of ALS besides ALS8. A number of successful drug tests in ALS animal models could not be translated to humans underscoring the need for novel approaches. The induced pluripotent stem cells (iPSC) technology brings new hope, since it can be used to model and investigate diseases in vitro. Here we present an additional tool to study ALS based on ALS8-iPSC. Fibroblasts from ALS8 patients and their non-carrier siblings were successfully reprogrammed to a pluripotent state and differentiated into motor neurons. We show for the first time that VAPB protein levels are reduced in ALS8-derived motor neurons but, in contrast to over-expression systems, cytoplasmic aggregates could not be identified. Our results suggest that optimal levels of VAPB may play a central role in the pathogenesis of ALS8, in agreement with the observed reduction of VAPB in sporadic ALS.

Pathogenesis

10.1093/hmg/ddr284

Cite

Citations (204)

A.P.14

Neuromuscular Disorders (2014)

Mariz Vainzof Monize Lazar Guilherme Lopes Yamamoto Camila de Almeida P.C.G. Onofre-Oliveira

Dysferlin

Emerin

Muscle contracture

10.1016/j.nmd.2014.06.144

Cite

Citations (1)

Next generation sequencing (NGS): A powerful tool for studying rigid spine patients and multiminicore myopathy

Neuromuscular Disorders (2015)

Juliana Gurgel‐Giannetti Eralda Luiza de Castro Concentino Monize Lazar Vanessa van der Linden Alexandre Varella Giannetti

Sanger sequencing

Congenital myopathy

Muscle disorder

10.1016/j.nmd.2015.06.302

Cite

Citations (0)

What is the best way to determine the cause of adolescent idiopathic scoliosis?

PubMed (2015)

Marcelo Wajchenberg Délio Eulálio Martins Monize Lazar

Adolescent idiopathic scoliosis (AIS) is defined as a lateral deviation of the spine associated with rotation that is found in healthy individuals and has no known cause. These subjects do not exhibit neuromuscular conditions or other disorders until the onset of sexual maturation at approximately 10 years of age (1). Diagnosis is challenging; radiography reveals curves of more than 10 degrees by Cobb method (2) without vertebral abnormalities. Additionally, the angular deviation required for diagnosis is controversial, which further complicates diagnosis. In 1995, Winter questioned the accepted diagnostic value used to characterize the disease and proposed that a curve of 5 degrees should be considered pathological or a variation from a normal spine (3). Furthermore, it is important to observe how rotation impacts the condition, as this feature may be more characteristic of the disease than the curvature itself.

Idiopathic scoliosis

Cobb angle

10.3978/j.issn.2305-5839.2015.02.08

Cite

Citations (5)

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

The American Journal of Human Genetics (2014)

Guilherme Lopes Yamamoto Wagner Antonio da Rosa Baratela Tatiana Ferreira de Almeida Monize Lazar Clara L. Afonso

Phosphocholine

Dystrophy

10.1016/j.ajhg.2013.11.022

Cite

Citations (46)

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

International Journal of Molecular Sciences (2022)

Juliana Gurgel‐Giannetti Lucas Santos Souza Guilherme Lopes Yamamoto Marina Belisario Monize Lazar

Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the “typical” form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.

Nemaline myopathy

Congenital myopathy

Compound heterozygosity

10.3390/ijms231911995

Cite

Citations (4)