Publications

Recent Publications

  • Estephan EP, Moreno CA, Silva AM, Mendonça RH, Abath O Neto, Nishimura PY,Galindo LT, Zanoteli E. Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient. ArqNeuropsiquiatr. 2017 Jan;75(1):72-73. doi: 10.1590/0004-282X20160171.
    https://www.ncbi.nlm.nih.gov/pubmed/28099567
  • Zygmunt D, Crowe KE, Flanigan K, Martin PT. Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. Hum Gene Ther. 2017 Jan 2.doi: 10.1089/hum.2016.141. [Epub ahead of print]
    https://www.ncbi.nlm.nih.gov/pubmed/28042944
  • Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi Y, Nishino I, Yamada M. Granuloma formation in a patient with GNE myopathy: A case report. NeuromusculDisord. 2016 Nov 18.pii: S0960-8966(16)30244-9. doi: 10.1016/j.nmd.2016.11.007.[Epub ahead of print] PubMed PMID: 27919547. https://www.ncbi.nlm.nih.gov/pubmed/27919547
  • Papadimas GK, Evilä A, Papadopoulos C, Kararizou E, Manta P, Udd B.GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.J Neuromuscul Dis. 2016 May 27;3(2):283-288. https://www.ncbi.nlm.nih.gov/pubmed/27854221
  • Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, AhmedR, Martinisi J, Kakkis E. Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study. J NeuromusculDis. 2016 Mar 3;3(1):49-66.
    https://www.ncbi.nlm.nih.gov/pubmed/27854209
  • Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-KumarV, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I. Missing genetic variations in GNE myopathy:rearrangement hotspots encompassing 5'UTR and founder allele. J Hum Genet.2016Nov 10.doi: 10.1038/jhg.2016.134. [Epub ahead of print]
    https://www.ncbi.nlm.nih.gov/pubmed/27829678
  • Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E,Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, FaquihT, Wakil SM, Altassan NA, Meyer BF, Bohlega S. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Hum Genomics. 2016 Sep27;10(1):32. PubMed PMID: 27671536;
    https://www.ncbi.nlm.nih.gov/pubmed/27671536
  • Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J,Nishino I, Prasad C, Lochmüller H, Nalini A. Beevor's sign: a potential clinical marker for GNE myopathy. Eur J Neurol. 2016 Aug;23(8):e46-8. doi:10.1111/ene.13041.
    https://www.ncbi.nlm.nih.gov/pubmed/27431025
  • Park HJ, Jang H, Kim JH, Lee JH, Shin HY, Kim SM, Park KD, Yim SV, Lee JH, Choi YC. Discovery of pathogenic variants in a large Korean cohort of inheritedmuscular disorders.Clin Genet. 2016 Jul 1.doi: 10.1111/cge.12826. [Epub aheadof print] https://www.ncbi.nlm.nih.gov/pubmed/27363342
  • Diniz G, Secil Y, Ceylaner S, Tokucoglu F, Türe S, Celebisoy M, İncesu TK,Akhan G. GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation. CaseRep Neurol Med. 2016;2016:8647645. doi: 10.1155/2016/8647645. PubMed PMID:27298745;
    https://www.ncbi.nlm.nih.gov/pubmed/27298745
  • Bennmann D, Weidemann W, Thate A, Kreuzmann D, Horstkorte R. Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy. FEBS J. 2016 Jun;283(12):2285-94. doi: 10.1111/febs.13729. PubMed PMID: 27037841.https://www.ncbi.nlm.nih.gov/pubmed/27037841
  • Harazi A, Becker-Cohen M, Zer H, Moshel O, Hinderlich S, Mitrani-Rosenbaum S.The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase(GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. Mol Neurobiol.2016 Mar 29. [Epub ahead of print]
    https://www.ncbi.nlm.nih.gov/pubmed/27023225
  • Bosch-Morató M, Iriondo C, Guivernau B, Valls-Comamala V, Vidal N, OlivéM,Querfurth H, Muñoz FJ. Increased amyloid β-peptide uptake in skeletal muscle isinduced by hyposialylation and may account for apoptosis in GNE myopathy.Oncotarget. 2016 Mar 22;7(12):13354-71. doi: 10.18632/oncotarget.7997.
    https://www.ncbi.nlm.nih.gov/pubmed/26968811
  • Argov Z, Mitrani Rosenbaum S. GNE Myopathy: Two Clusters with History and Several Founder Mutations.J Neuromuscul Dis. 2015 Jul 22;2(s2):S73-S76.
    https://www.ncbi.nlm.nih.gov/pubmed/27858758
  • Singh R, Arya R. GNE Myopathy and Cell Apoptosis: A Comparative M
    https://www.ncbi.nlm.nih.gov/pubmed/25976366

BASIC PUBLICATIONS ON GNE MYOPATHY

  • Nonaka I, Noguchi S, Nishino I. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. CurrNeurolNeurosci Rep. 2005 Feb;5(1):61-5. https://www.ncbi.nlm.nih.gov/pubmed/15676110
  • Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S. Molecular pathomechanism of distal myopathy with rimmed vacuoles. ActaMyol. 2005. Oct;24(2):80-3.
    https://www.ncbi.nlm.nih.gov/pubmed/16550921
  • Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet. 2007Nov 15;16(22):2669-82.
    https://www.ncbi.nlm.nih.gov/pubmed/16550921
  • Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med. 2009 Jun;15(6):690-5. doi: 10.1038/nm.1956. https://www.ncbi.nlm.nih.gov/pubmed/19448634
  • Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.
    https://www.ncbi.nlm.nih.gov/pubmed/11528398
  • Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat. 2003 Jan;21(1):99.
    https://www.ncbi.nlm.nih.gov/pubmed/12497639
  • Sela I, MilmanKrentsis I, Shlomai Z, Sadeh M, Dabby R, Argov Z, Ben-Bassat H, Mitrani-Rosenbaum S. The proteomic profile of hereditary inclusion body myopathy.PLoS One. 2011 Jan 31;6(1):e16334. doi: 10.1371/journal.pone.0016334. https://www.ncbi.nlm.nih.gov/pubmed/21305017