Mitochondrial encephalomyopathies: back to Mendelian genetics

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

Clinical genetics·2016

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Neurology·2012

Progress and problems in muscle glycogenoses.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2011

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Neurology·2011

Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.

Seminars in fetal & neonatal medicine·2011

Pathogenesis and treatment of mitochondrial myopathies: recent advances.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2011

Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy.

Annals of neurology·2026

Comparative Seizure Outcomes of Vagus Nerve Stimulation, Deep Brain Stimulation, and Their Combination in Lennox-Gastaut Syndrome.

Annals of neurology·2026

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia.

Annals of neurology·2026

Sex Differences in the Association of Simultaneous Decline in Blood Pressure and Decline in Cognition during Aging.

Annals of neurology·2026

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury.

Annals of neurology·2026

A new Patient-Reported Outcome Scale to assess autoimmune Encephalitis: PROSE.

Annals of neurology·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: back to Mendelian genetics

Related Concept Videos

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Progress and problems in muscle glycogenoses.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.

Pathogenesis and treatment of mitochondrial myopathies: recent advances.

Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy.

Comparative Seizure Outcomes of Vagus Nerve Stimulation, Deep Brain Stimulation, and Their Combination in Lennox-Gastaut Syndrome.

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia.

Sex Differences in the Association of Simultaneous Decline in Blood Pressure and Decline in Cognition during Aging.

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury.

A new Patient-Reported Outcome Scale to assess autoimmune Encephalitis: PROSE.

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: back to Mendelian genetics

Related Concept Videos

Related Articles