Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

Neurology·2008

[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2007

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Journal of medical genetics·2005

Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study.

Acta neuropathologica·2004

[Parent's information and prenatal diagnosis of cerebral malformation with an uncertain prognosis].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2004

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

Neuropediatrics·2003

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Lancet (London, England)·2026

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Lancet (London, England)·2026

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Lancet (London, England)·2026

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Lancet (London, England)·2026

Effect of early parenteral nutrition versus enteral nutrition alone on all-cause mortality in critically ill adults: A systematic review and meta-analysis.

JPEN. Journal of parenteral and enteral nutrition·2026

CT-guided percutaneous gastrostomy using needle puncture sequential coaxial dilation for high-risk patients with contraindications to conventional approaches.

Abdominal radiology (New York)·2026

Electrolyte supplementation patterns and evaluation in perioperative parenteral nutrition for patients undergoing major thoracoabdominal surgery: A multicenter, observational study.

Medicine·2026

Successful treatment with teduglutide in short bowel syndrome with intestinal failure secondary to small-bowel volvulus: a case report and literature review.

International journal of surgery case reports·2026

Cystinosis-associated metabolic bone disease: pathogenesis and outcome.

Pediatric nephrology (Berlin, Germany)·2026

Effects of probiotic supplementation on disease progression in patients with moderate to severe chronic kidney disease: a randomized controlled trial.

Scientific reports·2026

Related Experiment Videos

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

Related Concept Videos

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study.

[Parent's information and prenatal diagnosis of cerebral malformation with an uncertain prognosis].

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Catheter ablation for symptomatic atrial fibrillation (PVI-SHAM-AF): a randomised, double-blind, sham-controlled, multicentre trial.

Cardiovascular disease in pregnancy: physiology, global burden, risk stratification, and opportunities in care.

Effect of early parenteral nutrition versus enteral nutrition alone on all-cause mortality in critically ill adults: A systematic review and meta-analysis.

CT-guided percutaneous gastrostomy using needle puncture sequential coaxial dilation for high-risk patients with contraindications to conventional approaches.

Electrolyte supplementation patterns and evaluation in perioperative parenteral nutrition for patients undergoing major thoracoabdominal surgery: A multicenter, observational study.

Successful treatment with teduglutide in short bowel syndrome with intestinal failure secondary to small-bowel volvulus: a case report and literature review.

Cystinosis-associated metabolic bone disease: pathogenesis and outcome.

Effects of probiotic supplementation on disease progression in patients with moderate to severe chronic kidney disease: a randomized controlled trial.

Related Experiment Videos

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

Related Concept Videos

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