The kidney 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

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

Molecular genetics and metabolism·2013

KDIGO Life Cycle of Guideline Development Series Part 6: Bridging the Gap between Guidelines and Clinical Practice: The KDIGO Approach to Global Implementation and Education in Nephrology.

Kidney international·2026

KDIGO Life Cycle of Guideline Development Series Part 5: Guideline updates and a living model for the future.

Kidney international·2026

A three-year randomized, double-blind, placebo-controlled study of lanreotide in stage 2/3 autosomal dominant polycystic kidney disease.

Kidney international·2026

Asymptomatic serologic reactivation in patients with lupus nephritis in clinical remission: to treat or not to treat?

Kidney international·2026

What does it mean to win? Interpreting hierarchical kidney outcomes in hypertension trials.

Kidney international·2026

Resolving the VEGF paradox in DKD: VEGFR1 blockade shows promising renoprotection.

Kidney international·2026

The Role of the Mitochondrial Permeability Transition Pore in Chronic Pain.

Current neuropharmacology·2026

Protein Profile of Multiple Myeloma-Derived Extracellular Vesicles for the Discovery of Novel Myeloma-Related Biomarkers.

Cancer science·2026

Two-photon imaging microscopy of non-stained human epiretinal membranes.

Biomedical optics express·2026

Disseminated Culture-Negative Periprosthetic Knee Infection With Multifocal Septic Arthritis Associated With <i>Mycoplasma pneumoniae:</i> A Case Report.

Case reports in orthopedics·2026

Lung Infection Due to Species Infrequently Isolated in the Community Setting: Klebsiella variicola and Acinetobacter baumannii.

Cureus·2026

Associated Factors on Cytomegalovirus Reactivation in Patients with COVID-19 in the Intensive Care Unit.

Mediterranean journal of hematology and infectious diseases·2026

Related Experiment Videos

The kidney 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.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

KDIGO Life Cycle of Guideline Development Series Part 6: Bridging the Gap between Guidelines and Clinical Practice: The KDIGO Approach to Global Implementation and Education in Nephrology.

KDIGO Life Cycle of Guideline Development Series Part 5: Guideline updates and a living model for the future.

A three-year randomized, double-blind, placebo-controlled study of lanreotide in stage 2/3 autosomal dominant polycystic kidney disease.

Asymptomatic serologic reactivation in patients with lupus nephritis in clinical remission: to treat or not to treat?

What does it mean to win? Interpreting hierarchical kidney outcomes in hypertension trials.

Resolving the VEGF paradox in DKD: VEGFR1 blockade shows promising renoprotection.

The Role of the Mitochondrial Permeability Transition Pore in Chronic Pain.

Protein Profile of Multiple Myeloma-Derived Extracellular Vesicles for the Discovery of Novel Myeloma-Related Biomarkers.

Two-photon imaging microscopy of non-stained human epiretinal membranes.

Disseminated Culture-Negative Periprosthetic Knee Infection With Multifocal Septic Arthritis Associated With <i>Mycoplasma pneumoniae:</i> A Case Report.

Lung Infection Due to Species Infrequently Isolated in the Community Setting: Klebsiella variicola and Acinetobacter baumannii.

Associated Factors on Cytomegalovirus Reactivation in Patients with COVID-19 in the Intensive Care Unit.

Related Experiment Videos

The kidney in mitochondrial cytopathies

Related Concept Videos

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