Pages that link to "Q44411539"
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The following pages link to The phenotype of limb-girdle muscular dystrophy type 2I (Q44411539):
Displaying 50 items.
- Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness (Q28268157) (← links)
- Glycosylation defects: a new mechanism for muscular dystrophy? (Q28587952) (← links)
- Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. (Q30320032) (← links)
- LGMD2I in a North American population (Q33307069) (← links)
- Zebrafish models for human FKRP muscular dystrophies (Q33594227) (← links)
- Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene (Q33633266) (← links)
- Neuromuscular imaging in inherited muscle diseases (Q34130501) (← 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)
- Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study (Q34963315) (← links)
- Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function (Q35155971) (← links)
- The 10 autosomal recessive limb-girdle muscular dystrophies (Q35201105) (← links)
- Diagnostic immunohistology of muscle diseases (Q36085905) (← links)
- Cardiac involvement in muscular dystrophies: molecular mechanisms (Q36152983) (← links)
- ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies (Q36581125) (← links)
- Respiratory involvement in inherited primary muscle conditions (Q36596271) (← links)
- Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene (Q36942490) (← links)
- Muscular dystrophies due to defective glycosylation of dystroglycan (Q37223736) (← links)
- Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies (Q37329558) (← links)
- Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study (Q37610370) (← links)
- Muscular dystrophies: an update on pathology and diagnosis (Q37774933) (← links)
- δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches (Q37907409) (← links)
- Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? (Q38253968) (← links)
- Diagnosis of muscle diseases presenting with early respiratory failure (Q38265872) (← links)
- Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice (Q41480991) (← links)
- Characterization of site-specific O-glycan structures within the mucin-like domain of alpha-dystroglycan from human skeletal muscle (Q43052323) (← 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)
- The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (Q45174354) (← links)
- Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy (Q45424074) (← links)
- Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients (Q47767530) (← links)
- Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. (Q47906360) (← links)
- FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies (Q48613716) (← links)
- Neuromuscular disorders associated with cerebral malformations (Q48914593) (← links)
- High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark (Q50543585) (← links)
- Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. (Q50645413) (← 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)
- Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. (Q51935097) (← links)
- Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. (Q55555004) (← links)
- Klinik und Genetik der Gliederg�rteldystrophien (Q56459995) (← links)
- Limb Girdle Muscular Dystrophies (Q57390065) (← links)
- Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs (Q57390205) (← links)
- Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I (Q57642759) (← links)
- Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum (Q58052175) (← links)
- Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice (Q58701413) (← links)
- A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies (Q59134959) (← links)
- Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology (Q64041594) (← links)
- Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. (Q64885267) (← links)
- [Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients] (Q79918856) (← links)
- [The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene] (Q80250258) (← links)
- Muscular dystrophies (Q86291937) (← links)