a public good project by the
Synthesis
Company
of California

© 2026

Edmar Zanoteli | doi.page

0 works0 citations0 h-index

Edmar Zanoteli

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(BR)

Publications by Year

Research Areas

Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases, RNA modifications and cancer

Most-Cited Works

→ Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls(2021)268 cited
→ Rhabdomyolysis: a genetic perspective(2015)149 cited
→ Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy(2012)136 cited
→ A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy(2006)132 cited
→ Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes(2020)105 cited
→ Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial(2022)98 cited
→

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

(2017)

73 cited

→ Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters(2017)65 cited

→ Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy(2019)64 cited

→ Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,(2014)60 cited