Pages that link to "Q24684848"

The following pages link to Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene (Q24684848):

Displaying 44 items.

• inclusion body myositis (Q1848471) (← links)
• Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome (Q24321590) (← links)
• Immunization with amyloid-beta attenuates inclusion body myositis-like myopathology and motor impairment in a transgenic mouse model (Q24608911) (← links)
• Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys) (Q24674205) (← links)
• Insights into muscle degeneration from heritable inclusion body myopathies (Q26851967) (← links)
• The Myosin Chaperone UNC-45 Is Organized in Tandem Modules to Support Myofilament Formation in C. elegans (Q27675937) (← links)
• Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus (Q28087567) (← links)
• Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia (Q28212105) (← links)
• Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2) (Q28237642) (← links)
• Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb (Q28513616) (← links)
• Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations (Q33620883) (← links)
• A Drosophila model of dominant inclusion body myopathy type 3 shows diminished myosin kinetics that reduce muscle power and yield myofibrillar defects. (Q33830492) (← links)
• Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (Q33910216) (← links)
• Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (Q34032442) (← links)
• A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. (Q34314374) (← links)
• The molecular era of myology (Q35614903) (← links)
• Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness (Q35998580) (← links)
• Motor protein diseases of the nervous system (Q36327406) (← links)
• A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies (Q36803990) (← links)
• Myosin heavy chain is stabilized by BCL-2 interacting cell death suppressor (BIS) in skeletal muscle (Q36865114) (← links)
• Fine mapping of "mini-muscle," a recessive mutation causing reduced hindlimb muscle mass in mice (Q37324197) (← links)
• Thick and thin filament gene mutations in striated muscle diseases (Q37424833) (← links)
• Myosinopathies: pathology and mechanisms (Q38037315) (← links)
• Myopathology in congenital myopathies (Q39038887) (← links)
• Overview of the Muscle Cytoskeleton (Q39391006) (← links)
• The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy (Q40157250) (← links)
• Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. (Q41662001) (← links)
• A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. (Q41928481) (← links)
• Mutations in the SH1 helix alter the thermal properties of myosin II. (Q42185239) (← links)
• Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies (Q42877248) (← links)
• Myosin storage myopathy associated with a heterozygous missense mutation in MYH7 (Q44603687) (← links)
• The effects of endurance training in persons with a hereditary myosin myopathy (Q47227640) (← links)
• Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction (Q49388884) (← links)
• A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. (Q53101228) (← links)
• Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people. (Q54528508) (← links)
• A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses. (Q55278266) (← links)
• Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. (Q55312826) (← links)
• An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses (Q58799914) (← links)
• Bi-allelic mutations in MYL1 cause a severe congenital myopathy (Q63681671) (← links)
• Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy. (Q64950195) (← links)
• Congenital myopathies (Q82029849) (← links)
• Hereditary inclusion body myopathy and other rimmed vacuolar myopathies (Q82029897) (← links)
• Molecular features of the UNC-45 chaperone critical for binding and folding muscle myosin (Q90857341) (← links)
• Sarcopenia: Aging-Related Loss of Muscle Mass and Function (Q93067806) (← links)