Get started
Author

Miguel Mitne‐Neto

Observed names: M Mitne‐Neto, M. Mitne, M. Mitne-Neto, M. Mitne‐Neto, Miguel Mitne, Miguel Mitne Neto, Miguel Mitne-Neto, Mitne-Neto, Miguel, Mitne-Neto,Miguel
Observed institutions: Conselho Nacional de Desenvolvimento Científico e Tecnológico, Universidade de São Paulo, University of California San Diego, Rady Children's Hospital-San Diego, Centre Hospitalier Universitaire de Tours, Fundação de Amparo à Pesquisa do Estado de São Paulo, Instituto Paulo Gontijo, Stanford Medicine, Fleury S.A. (Brazil), University of Sheffield, Stanford University
ORCID: 0000-0001-8252-3531
Observed ORCID: 0000-0001-8252-3531
OpenAlex ID: A5060917167
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
2004 · Agnes L. Nishimura, Miguel Mitne-Neto, et al. · The American Journal of Human Genetics · 1,027
PDF
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
2018 · Aude Nicolas, Kevin P. Kenna, et al. · Neuron · 697
PDF
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
2011 · Miguel Mitne-Neto, Marcela Machado-Costa, et al. · Human Molecular Genetics · 217
PDF
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
2022 · Sai Zhang, Johnathan Cooper-Knock, et al. · Neuron · 124
PDF
Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use
2016 · Amanda Assoni, Giuliana Coatti, et al. · Stem Cells and Development · 64
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland
2017 · Marina M L Kizys, Ruy A Louzada, et al. · The Journal of Clinical Endocrinology & Metabolism · 61
MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals
2021 · Erick C. Castelli, Mateus V. de Castro, et al. · Frontiers in Immunology · 60
PDF
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
2010 · AD Funke, M Esser, et al. · Clinical Genetics · 60
PDF
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
2020 · Gijs H P Tazelaar, Steven Boeynaems, et al. · Brain Communications · 58
PDF
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
2020 · Johnathan Cooper-Knock, Sai Zhang, et al. · Cell Reports · 42
PDF
Reconsidering the causality of TIA1 mutations in ALS
2017 · Rick A. van der Spek, Wouter van Rheenen, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 38
PDF
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
2020 · Caio Robledo D'Angioli Costa Quaio, Caroline Monaco Moreira, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 37
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree
2007 · Miguel Mitne-Neto, Fernando Kok, et al. · European Journal of Human Genetics · 33
Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair
2022 · Mateus V. de Castro, Keity S. Santos, et al. · Open Biology · 32
Lack of Association Between the Brain-Derived Neurotrophin Factor (C-270T) Polymorphism and Late-Onset Alzheimer's Disease (LOAD) in Brazilian Patients
2004 · Agnes L. Nishimura, João R. M. Oliveira, et al. · Journal of Molecular Neuroscience · 32
A mutation in human VAP-B–MSP domain, present in ALS patients, affects the interaction with other cellular proteins
2007 · M. Mitne-Neto, C.R.R. Ramos, et al. · Protein Expression and Purification · 31
A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread
2021 · Gerson Shigeru Kobayashi, Luciano Abreu Brito, et al. · Diagnostics · 30
PDF
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study
2022 · Alexandre C Pereira, Taniela M Bes, et al. · Human Molecular Genetics · 29
PDF
Stem cells for amyotrophic lateral sclerosis modeling and therapy: Myth or fact?
2015 · G. C. Coatti, M. S. Beccari, et al. · Cytometry Part A · 23
PDF
CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients
2015 · Daniela Prudente Teixeira Nunes, Luciene Terezina de Lima, et al. · Blood Cells Molecules and Diseases · 21
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration
2020 · Danyllo Oliveira, David A Morales-Vicente, et al. · Human Molecular Genetics · 19
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
2021 · Caio Robledo D’Angioli Costa Quaio, María José Rivadeneira Obando, et al. · Genetics and Molecular Biology · 18
PDF
Mutational Profiling of Acute Myeloid Leukemia with Normal Cytogenetics in Brazilian Patients: The Value of Next-Generation Sequencing for Genomic Classification
2017 · Thiago Rodrigo de Noronha, Miguel Mitne-Neto, et al. · Journal of Investigative Medicine · 15
Convergent activation of the integrated stress response and ER–mitochondria uncoupling in VAPB-associated ALS
2025 · Curran Landry, James P Costanzo, et al. · EMBO Molecular Medicine · 14
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
2021 · Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 14
Works count: 64
Citation count: 2,876
H-index: 20
I10-index: 27
Year
Topic
Type