Mitochondrial encephalomyopathies: gene mutation

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal of neurology·2025

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Journal of neurology·2022

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Journal of neurology·2021

Nutritional support in mitochondrial diseases: the state of the art.

European review for medical and pharmacological sciences·2018

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Journal of neurology·2017

Recurrent miller fisher: a new case report and a literature review.

La Clinica terapeutica·2017

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Neuromuscular disorders : NMD·2026

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Neuromuscular disorders : NMD·2026

Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial.

Neuromuscular disorders : NMD·2026

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Neuromuscular disorders : NMD·2026

A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

Neuromuscular disorders : NMD·2026

Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength.

Neuromuscular disorders : NMD·2026

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Mediterranean journal of hematology and infectious diseases·2026

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Frontiers in reproductive health·2026

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Frontiers in nutrition·2026

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Frontiers in cellular and infection microbiology·2026

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Journal of health, population, and nutrition·2026

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

BMC gastroenterology·2026

Related Experiment Videos

Mitochondrial encephalomyopathies: gene mutation

Related Concept Videos

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Nutritional support in mitochondrial diseases: the state of the art.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Recurrent miller fisher: a new case report and a literature review.

Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review.

Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study.

Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

Systematic review of outcome measures in facioscapulohumeral dystrophy (FSHD): validated, usable, and feasible tools for assessing function, performance, and strength.

Dynamic OGTT-Derived Indices Outperform Fasting HOMA-2 for Detecting Dysglycemia in Transfusion-Dependent β-Thalassemia.

Orchestrating the gut microbiota-mitochondrial-immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies.

Association of the cholesterol-HDL-glucose index with prevalent metabolic dysfunction-associated steatotic liver disease and its incremental metabolic-hepatic assessment value: a hospital-based cross-sectional study.

Single-cell reanalysis identifies macrophage-associated transcriptional and intercellular communication features in diabetic foot ulcers.

Exploring the connection between life's crucial 9 and metabolic syndrome: the weight-adjusted waist index as a mediating factor.

Point shear wave elastography for non-invasive detection of advanced fibrosis in metabolic dysfunction-associated steatotic liver disease: a prospective histologically validated study.

Related Experiment Videos

Mitochondrial encephalomyopathies: gene mutation

Related Concept Videos

Related Articles