Compounds > phenylalanine

phenylalanine and Atrophy, Muscular, Peroneal

phenylalanine has been researched along with Atrophy, Muscular, Peroneal in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's5 (71.43)29.6817
2010's2 (28.57)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Brysbaert, G; Hallin, EI; Krokengen, OC; Kursula, P; Laulumaa, S; Lensink, MF; Nieminen, T; Raasakka, A; Ruskamo, S; Safaryan, A; Vattulainen, I1
Cunningham, JM; Dyck, PJ; Engelstad, JE; Kimmel, GW; Klein, CJ; Pittock, SJ; Wu, Y1
Christodoulou, K; Georgiou, DM; Kleopa, KA; Koutsou, P; Kyriakides, T; Nicolaou, P; Papathanasiou, E1
Floroskufi, P; Kalfakis, N; Karadima, G; Panas, M; Vassilopoulos, D1
Grid, D; Lagrange, E; Magdelaine, C; Magy, L; Sturtz, F; Tazir, M; Vallat, JM1
Aoki, A; Ohnishi, A; Tsuji, S; Yamamoto, T1
Matsuyama, W; Nakagawa, M; Osame, M; Takashima, H1

Other Studies

7 other study(ies) available for phenylalanine and Atrophy, Muscular, Peroneal

ArticleYear
Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins.
    BMC structural biology, 2018, 06-25, Volume: 18, Issue:1

    Topics: Calorimetry, Differential Scanning; Charcot-Marie-Tooth Disease; Crystallography, X-Ray; Fatty Acids; Humans; Lipid Bilayers; Models, Molecular; Molecular Dynamics Simulation; Mutation; Myelin P2 Protein; Phenylalanine; Protein Structure, Secondary; Protein Unfolding

2018
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
    Archives of neurology, 2011, Volume: 68, Issue:10

    Topics: Adult; Aged; Brain; Charcot-Marie-Tooth Disease; Europe; Family Health; Female; Genetic Testing; GTP Phosphohydrolases; Humans; Indians, North American; Leucine; Magnetic Resonance Imaging; Male; Membrane Proteins; Microscopy, Electron, Transmission; Middle Aged; Mitochondria; Mitochondrial Proteins; Phenotype; Phenylalanine; Sural Nerve

2011
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
    Neurogenetics, 2004, Volume: 5, Issue:3

    Topics: Adult; Charcot-Marie-Tooth Disease; Electrophysiology; Exons; Family Health; Female; Genetic Predisposition to Disease; Humans; Male; Mutation; Myelin Proteins; Neurons; Pedigree; Peripheral Nervous System Diseases; Phenotype; Phenylalanine; Point Mutation; Sequence Analysis, DNA; Serine

2004
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
    Journal of neurology, 2006, Volume: 253, Issue:2

    Topics: Adolescent; Adult; Aged; Aspartic Acid; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Codon, Terminator; Connexins; DNA Mutational Analysis; Family Health; Female; Gap Junction beta-1 Protein; Humans; Leucine; Male; Middle Aged; Mutation; Phenotype; Phenylalanine; Proline; Serine; Tyrosine; Valine

2006
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
    Acta neuropathologica, 2007, Volume: 113, Issue:4

    Topics: Adult; Asparagine; Charcot-Marie-Tooth Disease; Child; Consanguinity; Demyelinating Diseases; DNA Mutational Analysis; Female; Genes, Recessive; Humans; Microscopy, Electron, Transmission; Mutation; Myelin P0 Protein; Myelin Sheath; Peripheral Nerves; Phenylalanine; Serine; Tyrosine

2007
[A case of Charcot-Marie-Tooth disease 1 B with Val 146Phe mutation of myelin protein zero showing a severe clinical phenotype].
    Rinsho shinkeigaku = Clinical neurology, 2000, Volume: 40, Issue:3

    Topics: Adolescent; Amino Acid Substitution; Charcot-Marie-Tooth Disease; Humans; Male; Myelin P0 Protein; Neural Conduction; Peripheral Nerves; Phenylalanine; Point Mutation; Severity of Illness Index; Valine

2000
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
    Acta neuropathologica, 2002, Volume: 103, Issue:5

    Topics: Adult; Amino Acid Sequence; Animals; Cell Adhesion; Charcot-Marie-Tooth Disease; Child; DNA; Female; Gene Expression; Humans; Immunohistochemistry; Isoleucine; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Myelin P0 Protein; PC12 Cells; Phenotype; Phenylalanine; Protein Folding; Protein Structure, Tertiary; Protein Transport; Rats; Transfection

2002