These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 22231866)

  • 61. Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.
    Nemunaitis G; Jay CM; Maples PB; Gahl WA; Huizing M; Yardeni T; Tong AW; Phadke AP; Pappen BO; Bedell C; Allen H; Hernandez C; Templeton NS; Kuhn J; Senzer N; Nemunaitis J
    Hum Gene Ther; 2011 Nov; 22(11):1331-41. PubMed ID: 21517694
    [TBL] [Abstract][Full Text] [Related]  

  • 62. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
    Schessl J; Medne L; Hu Y; Zou Y; Brown MJ; Huse JT; Torigian DA; Jungbluth H; Goebel HH; Bönnemann CG
    Neuromuscul Disord; 2007 Jan; 17(1):28-32. PubMed ID: 17134899
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases.
    Mizusawa H; Kurisaki H; Takatsu M; Inoue K; Mannen T; Toyokura Y; Nakanishi T
    J Neurol; 1987 Apr; 234(3):129-36. PubMed ID: 3585419
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.
    Tal-Goldberg T; Lorain S; Mitrani-Rosenbaum S
    Neuromolecular Med; 2014 Jun; 16(2):322-31. PubMed ID: 24264357
    [TBL] [Abstract][Full Text] [Related]  

  • 65. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
    Hum Mol Genet; 2007 Jan; 16(2):115-28. PubMed ID: 17164266
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Cell stress molecules in the skeletal muscle of GNE myopathy.
    Fischer C; Kleinschnitz K; Wrede A; Muth I; Kruse N; Nishino I; Schmidt J
    BMC Neurol; 2013 Mar; 13():24. PubMed ID: 23496965
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Distal myopathy with rimmed vacuoles: Spectrum of
    Su F; Miao J; Liu X; Wei X; Yu X
    Exp Ther Med; 2018 Aug; 16(2):1505-1512. PubMed ID: 30112071
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
    Broccolini A; Ricci E; Cassandrini D; Gliubizzi C; Bruno C; Tonoli E; Silvestri G; Pescatori M; Rodolico C; Sinicropi S; Servidei S; Zara F; Minetti C; Tonali PA; Mirabella M
    Hum Mutat; 2004 Jun; 23(6):632. PubMed ID: 15146476
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
    Voermans NC; Guillard M; Doedée R; Lammens M; Huizing M; Padberg GW; Wevers RA; van Engelen BG; Lefeber DJ
    Clin Neuropathol; 2010; 29(2):71-7. PubMed ID: 20175955
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
    Eura N; Noguchi S; Ogasawara M; Kumutpongpanich T; Hayashi S; Nishino I;
    J Neurol; 2023 Dec; 270(12):5988-5998. PubMed ID: 37634163
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).
    Mori-Yoshimura M; Oya Y; Hayashi YK; Noguchi S; Nishino I; Murata M
    Neuromuscul Disord; 2013 Jan; 23(1):84-8. PubMed ID: 23127962
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery.
    Mitrani-Rosenbaum S; Yakovlev L; Becker Cohen M; Telem M; Elbaz M; Yanay N; Yotvat H; Ben Shlomo U; Harazi A; Fellig Y; Argov Z; Sela I
    Neuromuscul Disord; 2012 Nov; 22(11):1015-24. PubMed ID: 22633753
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Early and consistent pattern of proximal weakness in GNE myopathy.
    Khadilkar SV; Chaudhari AD; Singla MB; Dastur RS; Gaitonde PS; Bhutada AG; Hegde MR
    Muscle Nerve; 2021 Feb; 63(2):199-203. PubMed ID: 33197058
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
    Kayashima T; Matsuo H; Satoh A; Ohta T; Yoshiura K; Matsumoto N; Nakane Y; Niikawa N; Kishino T
    J Hum Genet; 2002; 47(2):77-9. PubMed ID: 11916006
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
    Tasca G; D'Amico A; Monforte M; Nadaj-Pakleza A; Vialle M; Fattori F; Vissing J; Ricci E; Bertini E
    Neuromuscul Disord; 2015 Nov; 25(11):898-903. PubMed ID: 26255678
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
    Saechao C; Valles-Ayoub Y; Esfandiarifard S; Haghighatgoo A; No D; Shook S; Mendell JR; Rosales-Quintero X; Felice KJ; Morel CF; Pietruska M; Darvish D
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):157-62. PubMed ID: 20059379
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Upper body involvement in GNE myopathy assessed by muscle imaging.
    Torchia E; Lucchini M; Bortolani S; Monforte M; Garibaldi M; Mirabella M; Tartaglione T; Ricci E; Tasca G
    Neuromuscul Disord; 2022 May; 32(5):410-418. PubMed ID: 35248449
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
    Ro LS; Lee-Chen GJ; Wu YR; Lee M; Hsu PY; Chen CM
    J Neurol Neurosurg Psychiatry; 2005 May; 76(5):752-5. PubMed ID: 15834044
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Genetics of GNE myopathy in the non-Jewish Persian population.
    Haghighi A; Nafissi S; Qurashi A; Tan Z; Shamshiri H; Nilipour Y; Haghighi A; Desnick RJ; Kornreich R
    Eur J Hum Genet; 2016 Feb; 24(2):243-51. PubMed ID: 25966635
    [TBL] [Abstract][Full Text] [Related]  

  • 80. [MRI findings in studies of distal myopathy with rimmed vacuoles].
    Mizuno T; Motonaga T; Yanagida K; Takanashi Y; Yamaguchi K
    Rinsho Shinkeigaku; 1989 Oct; 29(10):1290-3. PubMed ID: 2605836
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.