Pages that link to "Q50543585"

The following pages link to High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark (Q50543585):

Displaying 48 items.

• LGMD2I in a North American population (Q33307069) (← links)
• Zebrafish models for human FKRP muscular dystrophies (Q33594227) (← links)
• Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). (Q33608787) (← links)
• Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (Q33685609) (← links)
• Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I (Q33820866) (← links)
• Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China (Q34094843) (← links)
• Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. (Q34536338) (← links)
• Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected] (Q34756344) (← links)
• Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I (Q35206123) (← links)
• Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic (Q35227523) (← links)
• Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity (Q35398252) (← links)
• ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases (Q35787376) (← links)
• Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice (Q36155320) (← links)
• Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients (Q36406750) (← links)
• Muscular dystrophies due to defective glycosylation of dystroglycan (Q37223736) (← links)
• Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies (Q37329558) (← links)
• Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark (Q37716090) (← links)
• Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies (Q38089840) (← links)
• Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy (Q38328874) (← links)
• AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. (Q38882219) (← links)
• Progress and challenges in diagnosis of dysferlinopathy (Q38921880) (← links)
• Young adults' experiences of living with recessive limb-girdle muscular dystrophy from a salutogenic orientation: an interview study (Q39061103) (← links)
• Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature (Q39446939) (← links)
• The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis (Q39762444) (← links)
• How to tackle the diagnosis of limb-girdle muscular dystrophy 2A (Q42271189) (← links)
• Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies (Q42314733) (← links)
• Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients (Q43263549) (← links)
• Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression (Q44039213) (← links)
• Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. (Q45384428) (← links)
• Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. (Q46855354) (← links)
• Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. (Q47119531) (← links)
• Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients (Q47767530) (← links)
• Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies (Q48104215) (← links)
• FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies (Q48613716) (← links)
• A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy (Q48695686) (← links)
• cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark (Q50547039) (← links)
• A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans (Q50911860) (← links)
• Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. (Q53152323) (← links)
• Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. (Q54498102) (← links)
• Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I (Q57642759) (← links)
• The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients (Q58782428) (← links)
• Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients (Q61943899) (← links)
• Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G (Q64083039) (← links)
• [Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients] (Q79918856) (← links)
• Muscular dystrophies (Q86291937) (← links)
• Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls (Q92008119) (← links)
• ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure (Q92509407) (← links)
• Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect (Q92640099) (← links)