Miguel Neto-Mitne

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

Convergent activation of the integrated stress response and ER-mitochondria uncoupling in VAPB-associated ALS.

Convergent activation of the integrated stress response and ER-mitochondria uncoupling in VAPB-associated ALS.

Journal: EMBO molecular medicine

Published: May 06, 2025

Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis.

Mitochondrial dysfunction heightens the integrated stress response to drive ALS pathogenesis.

Journal: bioRxiv : the preprint server for biology

Published: May 27, 2024

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Journal: Frontiers in oncology

Published: February 22, 2024

Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8.

Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 02, 2022

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.

Journal: Journal of neuroendocrinology

Published: June 09, 2022

Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study.

Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study.

Journal: Human molecular genetics

Published: October 06, 2021

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

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

Journal: Frontiers in immunology

Published: July 16, 2021

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

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

Journal: Diagnostics (Basel, Switzerland)

Published: June 08, 2021

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: February 27, 2021

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.

Journal: Genetics and molecular biology

Published: February 24, 2021

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: October 09, 2020

Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.

Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.

Journal: Human molecular genetics

Published: November 08, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026