Renal involvement in mitochondrial cytopathies

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Clinical genetics·2017

Genetics of mitochondrial respiratory chain deficiencies.

Revue neurologique·2014

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

Journal of medical genetics·2014

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

Revue neurologique·2014

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

European journal of medical genetics·2013

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

Mitochondrion·2012

Urea vs. tolvaptan for hospitalized patients with SIADH.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Risk factor obesity: Treatment Standard.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Proteinuria remission and long-term kidney outcome in children with IgA nephropathy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

C5a/C5aR1 mediates AKI-CKD transition by enhancing autophagy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Atypical presentation and severity of Dengue fever in patients with CKD.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Impact of immunosuppressive therapy on renal and patient survival in rapidly progressive secondary IgA nephropathy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·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

Renal involvement in mitochondrial cytopathies

Related Concept Videos

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Genetics of mitochondrial respiratory chain deficiencies.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

Urea vs. tolvaptan for hospitalized patients with SIADH.

Risk factor obesity: Treatment Standard.

Proteinuria remission and long-term kidney outcome in children with IgA nephropathy.

C5a/C5aR1 mediates AKI-CKD transition by enhancing autophagy.

Atypical presentation and severity of Dengue fever in patients with CKD.

Impact of immunosuppressive therapy on renal and patient survival in rapidly progressive secondary IgA nephropathy.

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

Renal involvement in mitochondrial cytopathies

Related Concept Videos

Related Articles