Associated Papers
Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Myopathy.
Awana MT et al.
Clinical Pediatrics, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Abdi M et al.
Genome Medicine, 2023
Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases.
Fournier JE et al.
Journal of the Neurological Sciences, 2023
Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report.
Chen L et al.
World Journal of Clinical Cases, 2023
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS et al.
Journal of Neuromuscular Diseases, 2023
Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy.
van Tienen F et al.
Stem Cell Research & Therapy, 2019
Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review.
Pan X et al.
Frontiers in Neurology, 2019
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
Revisiting the dystrophin-ATP connection: How half a century of research still implicates mitochondrial dysfunction in Duchenne Muscular Dystrophy aetiology.
Timpani CA et al.
Medical Hypotheses, 2015
Structural genomic variation in childhood epilepsies with complex phenotypes.
Helbig I et al.
European Journal of Human Genetics : Ejhg, 2014
The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.
Arbustini E et al.
Journal of the American College of Cardiology, 2013
The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.
Arbustini E et al.
Global Heart, 2013
Noninvasive urine-derived cell lines derived from neurological genetic patients.
Zhang QJ et al.
Neuroreport, 2013
[Retinal involvement and genetic myopathy].
Sacconi S et al.
Revue Neurologique, 2010
Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients.
Kiyomoto BH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2006
Pathology of skeletal muscle in mitochondrial disorders.
Bourgeois JM et al.
Mitochondrion, 2004
A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy.
Wong LJ et al.
Muscle & Nerve, 2004
Muscle structural changes in mitochondrial myopathy relate to genotype.
Olsen DB et al.
Journal of Neurology, 2003
Does the patient have a mitochondrial encephalomyopathy?
DiMauro S et al.
Journal of Child Neurology, 1999
Mitochondrial DNA in idiopathic cardiomyopathy.
Turner LF et al.
European Heart Journal, 1998
[Metachromatic leukdystrophy (Sulfatidosis) and mucopolysaccharidosis associated in the same patient].
Thieffry S et al.
Revue Neurologique, 1966