phenylalanine and Muscular Diseases

phenylalanine has been researched along with Muscular Diseases in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19901 (16.67)18.7374
1990's0 (0.00)18.2507
2000's4 (66.67)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Antozzi, C; Brancati, F; D Apice, MR; Federici, L; Maggi, L; Marshall, CR; Massa, R; Minassian, BA; Mora, M; Morandi, L; Novelli, G; Pasanisi, MB; Ruggieri, A; Sangiuolo, F; Saredi, S; Scherer, SW; Terracciano, C; Zanotti, S1
Arima, M; Chui, DH; Kotorii, S; Santa, Y; Tabira, T; Takahashi, K; Uyama, E1
Bönnemann, CG; Brune, T; Denecke, J; Feuer, A; Ketelsen, UP; Kirschner, J; Korinthenberg, R; Marquardt, T; Wasner, C; Wehnert, M; Wieacker, P1
Chinkes, DL; Gore, DC; Wolfe, RR1
Berciano, J; Combarros, O; Domínguez-Perles, R; Gallardo, E; García, A; García-Barredo, R; Illa, I; Infante, J1
Kar, NC; Pearson, CM1

Other Studies

6 other study(ies) available for phenylalanine and Muscular Diseases

ArticleYear
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
    Acta neuropathologica communications, 2015, Jul-25, Volume: 3

    Topics: Adult; Aged; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; HSP40 Heat-Shock Proteins; HSP70 Heat-Shock Proteins; Humans; Italy; Male; Middle Aged; Models, Molecular; Molecular Chaperones; Muscular Diseases; Mutation, Missense; Nerve Tissue Proteins; Phenylalanine; Tomography Scanners, X-Ray Computed; Valine; Young Adult

2015
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
    Journal of the neurological sciences, 2003, Aug-15, Volume: 212, Issue:1-2

    Topics: Age of Onset; Arginine; Arteries; Brain; Cerebral Arterial Diseases; Cerebral Infarction; Cysteine; DNA Mutational Analysis; Family Health; Female; Humans; Immunohistochemistry; Japan; Lysine; Magnetic Resonance Imaging; Male; Microscopy, Electron; Muscular Diseases; Mutation; Phenylalanine; Proto-Oncogene Proteins; Receptor, Notch3; Receptors, Cell Surface; Receptors, Notch

2003
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
    Annals of neurology, 2005, Volume: 57, Issue:1

    Topics: Blotting, Western; Child; DNA Mutational Analysis; Female; Humans; Lamin Type A; Muscles; Muscular Diseases; Mutation, Missense; Phenylalanine; Progeria; Serine; Staining and Labeling

2005
Quantification of amino acid transport through interstitial fluid: assessment of four-compartment modeling for muscle protein kinetics.
    American journal of physiology. Endocrinology and metabolism, 2007, Volume: 292, Issue:1

    Topics: Adult; Amino Acids; Biological Transport; Cell Compartmentation; Critical Illness; Extracellular Fluid; Humans; Leg; Metabolism; Middle Aged; Models, Biological; Muscle Proteins; Muscle, Skeletal; Muscular Diseases; Phenylalanine; Regional Blood Flow; Sepsis

2007
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2

    Topics: Adipose Tissue; Adult; Aged; Amino Acid Substitution; Atrophy; Biopsy; Chromosome Aberrations; Codon; Connectin; Creatine Kinase; Cytoskeletal Proteins; DNA Mutational Analysis; Electromyography; Exons; Female; Genes, Dominant; Genetic Carrier Screening; Humans; Leg; Magnetic Resonance Imaging; Male; Microfilament Proteins; Middle Aged; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Muscular Atrophy; Muscular Diseases; Muscular Dystrophies, Limb-Girdle; Mutation, Missense; Neurologic Examination; Pedigree; Phenotype; Phenylalanine; Serine

2008
Acetyl-DL-phenylalanine beta-naphthyl esterase activity in human muscle disease.
    Biochemical medicine, 1978, Volume: 20, Issue:1

    Topics: Adolescent; Adult; Aged; Carboxylic Ester Hydrolases; Child; Child, Preschool; Esterases; Humans; Hydrogen-Ion Concentration; Hydrolysis; Middle Aged; Muscles; Muscular Diseases; Neuromuscular Diseases; Phenylalanine; Substrate Specificity

1978