Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary? |
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Analyse du gène SEPN1, codant la sélénoprotéine N, dans le cadre du diagnostic génétique d'une dystrophie musculaire congénitale |
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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution |
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Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. |
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A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy. |
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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. |
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Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. |
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[A complex case of diabetes due to LMNA mutation]. |
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Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation. |
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[Congenital myasthenic syndromes; French experience] |
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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia |
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The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the |
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Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain |
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Diaphragmatic dysfunction in SEPN1-related myopathy. |
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Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. |
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Early onset collagen VI myopathies: Genetic and clinical correlations |
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FHL2 expression and variants in hypertrophic cardiomyopathy |
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations |
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Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. |
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Genetic advances in sarcomeric cardiomyopathies: state of the art. |
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Génétique des cardiomyopathies héréditaires |
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Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. |
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High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. |
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors' reply. |
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Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. |
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Identification de variants du gène FLNC dans les cardiomyopathies humaines et modélisations fonctionnelles chez la drosophile et dans des pseudo-tissus cardiaques |
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Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. |
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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases |
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L'Apolipoprotéine E humaine : étude de son polymorphisme génétique dans les implications physiopathologiques : contribution à la construction d'un système d'expression hétérologue |
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Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. |
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Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability |
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A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy |
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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies. |
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Myofibrillar myopathies: State of the art, present and future challenges |
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Natural history of pulmonary function in collagen VI-related myopathies |
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New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. |
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A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. |
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A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity. |
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Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients. |
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PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling |
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Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy |
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Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. |
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Rigid spine syndrome revealing late-onset Pompe disease |
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La sérologie du virus Epstein-Barr : comparaison du test enzygnost anti-EBV IgG/IgM avec l'immunofluorescence indirecte |
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Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum |
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Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders |
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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity |
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Telethonin-deficiency initially presenting as a congenital muscular dystrophy. |
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation |
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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern |
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Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations |
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