Associated Papers
Genetic evaluation of early-onset atrial fibrillation: impact on patient management.
Laws JL et al.
European Heart Journal, 2025
The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.
Crisafulli O et al.
European Journal of Applied Physiology, 2025
The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic.
Laws JL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies.
Saak A et al.
Frontiers in Neuroscience, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.
Motlagh Scholle L et al.
International Journal of Molecular Sciences, 2019
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D et al.
International Journal of Molecular Sciences, 2017
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.
Lehmann D et al.
Journal of the Neurological Sciences, 2014
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
Joshi PR et al.
Journal of the Neurological Sciences, 2014
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2006
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