Page last updated: 2024-08-18

tecnazene and Autosomal Dominant Myotubular Myopathy

tecnazene has been researched along with Autosomal Dominant Myotubular Myopathy in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's6 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kim, DS; Kim, HS; Lee, CH; Park, YE; Shin, JH1
Pelin, K; Wallgren-Pettersson, C1
Abdel-Hamid, HZ; Al-Ghamdi, F; Beggs, AH; Lacomis, D; Marttila, M; Win, W1
MacKenzie, JJ; Piteau, SJ; Rossiter, JP; Smith, RG1
Abath Neto, O; Kiiski, K; Laporte, J; Lehtokari, VL; Lubieniecki, F; Malfatti, E; Monges, S; Romero, NB; Schaeffer, U; Taratuto, AL; Wallgren-Pettersson, C1
Carlier, RY; Fischer, D; Quijano-Roy, S1

Reviews

3 review(s) available for tecnazene and Autosomal Dominant Myotubular Myopathy

ArticleYear
Update on the Genetics of Congenital Myopathies.
    Seminars in pediatric neurology, 2019, Volume: 29

    Topics: Actins; Genotype; Humans; Muscle Proteins; Mutation; Myopathies, Structural, Congenital; Phenotype

2019
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
    Pediatric neurology, 2014, Volume: 51, Issue:2

    Topics: Child; Humans; Male; Muscle Proteins; Myopathies, Nemaline; Myopathies, Structural, Congenital

2014
Muscle imaging in congenital myopathies.
    Seminars in pediatric neurology, 2011, Volume: 18, Issue:4

    Topics: Diagnosis, Differential; Dynamin II; Humans; Magnetic Resonance Imaging; Muscle Proteins; Mutation; Myopathies, Structural, Congenital; Nerve Tissue Proteins; Protein Tyrosine Phosphatases, Non-Receptor; Ryanodine Receptor Calcium Release Channel; Selenoproteins; Tomography, X-Ray Computed

2011

Other Studies

3 other study(ies) available for tecnazene and Autosomal Dominant Myotubular Myopathy

ArticleYear
Characterization of congenital myopathies at a Korean neuromuscular center.
    Muscle & nerve, 2018, Volume: 58, Issue:2

    Topics: Adolescent; Adult; Age of Onset; Child; Child, Preschool; Dynamin II; Dynamins; Female; Humans; Infant; Male; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Nemaline; Myopathies, Structural, Congenital; Myopathy, Central Core; Myotonia Congenita; Republic of Korea; Retrospective Studies; Ryanodine Receptor Calcium Release Channel; Treatment Outcome; Young Adult

2018
    Cold Spring Harbor molecular case studies, 2019, Volume: 5, Issue:4

    Topics: Cardiac Myosins; Cardiomyopathies; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Myopathies, Structural, Congenital; Myosin Light Chains; Neuromuscular Diseases; Phenotype

2019
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
    European journal of medical genetics, 2015, Volume: 58, Issue:10

    Topics: Adolescent; Amino Acid Sequence; Base Sequence; Child; Exome; Female; Gait Disorders, Neurologic; Humans; Male; Molecular Sequence Data; Muscle Proteins; Mutation; Myopathies, Structural, Congenital; Young Adult

2015