相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
Anna Cho et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
Two recurrent mutations are associated with GNE myopathy in the North of Britain
Amina Chaouch et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
Correction of the Middle Eastern M712T Mutation Causing GNE Myopathy by Trans-Splicing
Tzukit Tal-Goldberg et al.
NEUROMOLECULAR MEDICINE (2014)
GNE myopathy: New name and new mutation nomenclature
Marjan Huizing et al.
NEUROMUSCULAR DISORDERS (2014)
Cell stress molecules in the skeletal muscle of GNE myopathy
Charlotte Fischer et al.
BMC NEUROLOGY (2013)
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran
H. Khademian et al.
CLINICAL GENETICS (2013)
Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation
Ilan Sela et al.
NEUROMOLECULAR MEDICINE (2013)
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)
Madoka Mori-Yoshimura et al.
NEUROMUSCULAR DISORDERS (2013)
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
Harumasa Nakamura et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy
May Christine V. Malicdan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Muscle imaging findings in GNE myopathy
Giorgio Tasca et al.
JOURNAL OF NEUROLOGY (2012)
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations
Madoka Mori-Yoshimura et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations
Young-Eun Park et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)
Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case
Meena A. Kannan et al.
NEUROLOGY INDIA (2012)
Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery
Stella Mitrani-Rosenbaum et al.
NEUROMUSCULAR DISORDERS (2012)
Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice
Mitutoshi Ito et al.
PLOS ONE (2012)
Identification, Tissue Distribution, and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GIcNAc 2-Epimerase/ManNAc Kinase
Tal Yardeni et al.
BIOCHEMISTRY (2011)
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
Steven E. Boyden et al.
BMC MEDICAL GENETICS (2011)
Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex
Gregory Nemunaitis et al.
HUMAN GENE THERAPY (2011)
HEREDITARY INCLUSION-BODY MYOPATHY ASSOCIATED WITH CARDIOMYOPATHY: REPORT OF TWO SIBLINGS
Yaohui Chai et al.
MUSCLE & NERVE (2011)
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
Xianghui Lu et al.
NEUROLOGICAL RESEARCH (2011)
Novel GNE mutations in two phenotypically distinct HIBM2 patients
Conrad C. Weihl et al.
NEUROMUSCULAR DISORDERS (2011)
Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent
Chai Saechao et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
Genetic screening in the Persian Jewish community: A pilot study
Michael Kaback et al.
GENETICS IN MEDICINE (2010)
Hereditary Inclusion Body Myopathy: A decade of progress
Marjan Huizing et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Sialic acids as regulators of molecular and cellular interactions
Roland Schauer
CURRENT OPINION IN STRUCTURAL BIOLOGY (2009)
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
May Christine V. Malicdan et al.
NATURE MEDICINE (2009)
The hereditary inclusion body myopathy enigma and its future therapy
Zohar Argov et al.
NEUROTHERAPEUTICS (2008)
Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
May Christine V. Malicdan et al.
PHYSIOLOGICAL GENOMICS (2008)
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
Belinda Galeano et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice
Daniel Gagiannis et al.
GLYCOCONJUGATE JOURNAL (2007)
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
Susan Sparks et al.
BMC NEUROLOGY (2007)
Mutation analysis of the one gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
Teerin Liewluck et al.
MUSCLE & NERVE (2006)
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
BJ Kim et al.
JOURNAL OF HUMAN GENETICS (2006)
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
R Amouri et al.
NEUROMUSCULAR DISORDERS (2005)
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation
I Salama et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Distal myopathy with rimmed vacuoles (DMRV) - New GNE mutations and splice variant
H Tomimitsu et al.
NEUROLOGY (2004)
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
R Del Bo et al.
MUSCLE & NERVE (2003)
Hereditary inclusion body myopathy - The Middle Eastern genetic cluster
Z Argov et al.
NEUROLOGY (2003)
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation
S Krause et al.
NEUROMUSCULAR DISORDERS (2003)
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
I Nishino et al.
NEUROLOGY (2002)
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
OM Vasconcelos et al.
NEUROLOGY (2002)
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)
D Darvish et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Sialylation is essential for early development in mice
M Schwarzkopf et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
I Eisenberg et al.
NATURE GENETICS (2001)
分享论文
