Pages that link to "Q34397083"

The following pages link to Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. (Q34397083):

Displaying 39 items.

• Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle (Q28508989) (← links)
• Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum. (Q34017261) (← links)
• Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland (Q34627289) (← links)
• Muscle giants: molecular scaffolds in sarcomerogenesis (Q34793699) (← links)
• Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. (Q35117475) (← links)
• Prevalence of Titin Truncating Variants in General Population (Q35877860) (← links)
• Titin mutation segregates with hereditary myopathy with early respiratory failure (Q35986692) (← links)
• Genetic elevation of sphingosine 1-phosphate suppresses dystrophic muscle phenotypes in Drosophila (Q36444141) (← links)
• Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. (Q36729177) (← links)
• Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy (Q37227067) (← links)
• Titin-based mechanical signalling in normal and failing myocardium (Q37565374) (← links)
• Ankyrin protein networks in membrane formation and stabilization (Q37617545) (← links)
• Muscular dystrophies: an update on pathology and diagnosis (Q37774933) (← links)
• Μyospryn: a multifunctional desmin-associated protein (Q38113066) (← links)
• Genetic basis of limb-girdle muscular dystrophies: the 2014 update (Q38213016) (← links)
• A rising titan: TTN review and mutation update (Q38224878) (← links)
• Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin (Q38325462) (← links)
• The sarcomeric M-region: a molecular command center for diverse cellular processes (Q38471353) (← links)
• Exon- and contraction-dependent functions of titin in sarcomere assembly. (Q38796202) (← links)
• Prenatal diagnosis of congenital myopathies and muscular dystrophies. (Q38838661) (← links)
• Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing (Q39016484) (← links)
• Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies (Q42118651) (← links)
• The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. (Q43242950) (← links)
• Atypical phenotypes in titinopathies explained by second titin mutations (Q44799266) (← links)
• Hereditary myopathy with early respiratory failure: occurrence in various populations (Q45838995) (← links)
• A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN. (Q48266568) (← links)
• Dominant LGMD2A: alternative diagnosis or hidden digenism? (Q48438116) (← links)
• Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. (Q49141383) (← links)
• Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients (Q50430326) (← links)
• Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. (Q51063227) (← links)
• Congenital titinopathy: Comprehensive characterisation and pathogenic insights. (Q52565198) (← links)
• CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. (Q52951368) (← links)
• Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J. (Q54245073) (← links)
• Limb Girdle Muscular Dystrophies (Q57390065) (← links)
• Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients (Q61943899) (← links)
• Fibre type-specific increase in passive muscle tension in spinal cord-injured subjects with spasticity (Q80164845) (← links)
• Distal myopathies (Q82029893) (← links)
• Distal myopathies (Q87192794) (← links)
• Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies (Q92713440) (← links)