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Congenital disorders of glycosylation: narration of a story through its patents
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical...
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Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)
BackgroundDystroglycanopathies are a heterogeneous group of membrane-related muscular dystrophies. The dystroglycanopathy phenotype includes a...
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Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Background and aimCongenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to...
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Neuromuscular diseases and their cardiac manifestations under the spectrum of cardiovascular imaging
Neuromuscular diseases (NMDs) include a broad spectrum of disorders that affect motor unit in every possible site, extending from the cell body of...
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Current state of rare disease registries and databases in Australia: a sco** review
BackgroundRare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic...
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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
BackgroundArthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal...
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Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure
Heart failure is a global health burden responsible for high morbidity and mortality with a prevalence of greater than 60 million individuals...
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Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen
BackgroundThe possibilities in the field of molecular therapies of neuromuscular diseases have rapidly developed in recent years. First compounds are...
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Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning
BackgroundThe diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be challenging in patients not displaying the classical phenotype or...
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Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts...
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Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
BackgroundLimb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle...
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Muscle biopsy essential diagnostic advice for pathologists
BackgroundMuscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified...
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Role of CMR Imaging in Diagnostics and Evaluation of Cardiac Involvement in Muscle Dystrophies
Purpose of ReviewThis review aims to outline the utility of cardiac magnetic resonance (CMR) in patients with different types of muscular dystrophies...
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LRRC8A influences the growth of gastric cancer cells via the p53 signaling pathway
BackgroundLeucin-rich repeat containing protein A (LRRC8A), a component of the volume-regulated anion channel (VRAC), is activated by cell swelling...
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Protein glycosylation in cardiovascular health and disease
Protein glycosylation, which involves the attachment of carbohydrates to proteins, is one of the most abundant protein co-translational and...
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Aktuelle therapeutische Möglichkeiten bei Muskeldystrophien
The increasing understanding of the molecular mechanisms in Duchenne muscular dystrophy, which is caused by a defect in the dystrophin gene and other...
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Molecular carcinogenesis of gastric cancer: Lauren classification, mucin phenotype expression, and cancer stem cells
Gastric cancer (GC), one of the most common human cancers, is a heterogeneous disease with different phenotypes, prognoses, and responses to...
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Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy
Purpose of ReviewDilated cardiomyopathy (DCM) frequently involves an underlying genetic etiology, but the clinical approach for genetic diagnosis and...
