arginine and Myopathies, Nemaline

arginine has been researched along with Myopathies, Nemaline in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (16.67)18.2507
2000's5 (83.33)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Durling, HJ; Gunning, P; Laing, NG; Lochmüller, H; Mendel, B; Müller-Höcker, J; Pongratz, D; Reilich, P; Wallgren-Pettersson, C1
Akkari, PA; Cooper, ST; Corbett, MA; Domazetovska, A; Gunning, PW; Hardeman, EC; Laing, NG; North, KN1
Appleton, RE; Barois, A; Childs, AM; Clement, S; Dobbie, JA; Jayawant, SS; Laing, NG; Mountford, RC; Muntoni, F; Navarro, C; Nowak, KJ; Reina, C; Ricoy, JR; Romero, NB; Sewry, CA; Squier, W; Walker, KR1
Dubas, F; Laing, N; Monnier, N; Pénisson-Besnier, I; Toutain, A1
Healy, JM; Heffron, JJ; Heytens, L; Keating, KE; Krivosic-Horber, R; Lehane, M; McCarthy, TV; Quane, KA1
Corbett, MA; Dunglison, GF; Gunning, PW; Hardeman, EC; Joya, JE; North, KN; Robinson, CS; Schnell, C; Stewart, AW; Yang, N1

Other Studies

6 other study(ies) available for arginine and Myopathies, Nemaline

ArticleYear
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
    Neuromuscular disorders : NMD, 2002, Volume: 12, Issue:10

    Topics: Adenosine Triphosphatases; Adolescent; Arginine; DNA Mutational Analysis; Drosophila Proteins; Exons; Female; Genetic Carrier Screening; Histidine; Humans; Muscle Fibers, Skeletal; Muscle Weakness; Mutation, Missense; Myopathies, Nemaline; Tropomyosin

2002
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
    Annals of neurology, 2005, Volume: 57, Issue:1

    Topics: Animals; Animals, Newborn; Arginine; Blotting, Northern; Blotting, Western; Dimerization; Disease Models, Animal; DNA Mutational Analysis; Gene Expression Regulation; Humans; Methionine; Mice; Mice, Transgenic; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Promoter Regions, Genetic; Protein Structure, Secondary; Recombinant Proteins; RNA, Messenger; Time Factors; Tropomyosin

2005
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
    Annals of neurology, 2007, Volume: 61, Issue:2

    Topics: Actins; Arginine; Aspartic Acid; Blotting, Western; Child, Preschool; Homozygote; Humans; Immunohistochemistry; Infant; Male; Microscopy, Electron; Muscle, Skeletal; Mutation; Myocardium; Myopathies, Nemaline; Tyrosine

2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
    Neuromuscular disorders : NMD, 2007, Volume: 17, Issue:4

    Topics: Adolescent; Adult; Arginine; Family Health; Female; Histidine; Humans; Male; Microscopy, Electron, Transmission; Middle Aged; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Pedigree; Tropomyosin

2007
Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease.
    Biochemical Society transactions, 1995, Volume: 23, Issue:2

    Topics: Arginine; Calcium Channels; Calcium-Binding Proteins; Cysteine; DNA; Glycine; Haplotypes; Humans; Malignant Hyperthermia; Muscle Proteins; Myopathies, Nemaline; Nucleic Acid Conformation; Point Mutation; Ryanodine Receptor Calcium Release Channel

1995
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
    Human molecular genetics, 2001, Feb-15, Volume: 10, Issue:4

    Topics: Amino Acid Substitution; Animals; Arginine; Disease Models, Animal; Dissection; Female; Glycolysis; Humans; Hypertrophy; Inclusion Bodies; Methionine; Mice; Mice, Inbred Strains; Mice, Transgenic; Microtubules; Muscle Development; Muscle Fibers, Fast-Twitch; Muscle Fibers, Slow-Twitch; Muscle Weakness; Muscle, Skeletal; Myopathies, Nemaline; Oxidation-Reduction; Point Mutation; RNA, Messenger; Sarcoplasmic Reticulum; Strontium; Tropomyosin

2001