Disease: Inclusion body myopathy- 2 autosomal recessive
- <em>GNE</em> Myopathy
- A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations
- A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
- A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
- A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
- Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy
- Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
- alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
- An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
- An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1
- Atypical presentation of GNE myopathy with asymmetric hand weakness
- Autophagic vacuolar myopathy in twin girls
- Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
- Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus
- Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy
- Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
- Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
- Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
- Crystal structure of the N-acetylmannosamine kinase domain of GNE
- Development of therapy for distal myopathy with rimmed vacuoles
- Distal myopathies
- Distal myopathy with rimmed vacuole formation. A follow-up study
- Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
- Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
- Distal myopathy with rimmed vacuoles: report on clinical characteristics in 23 cases
- Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients
- Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene
- Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)
- Genetic screening in the Persian Jewish community: A pilot study
- GNE myopathy
- GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing
- GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
- Hereditary inclusion body myopathy: a decade of progress
- Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy
- Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex
- Hereditary inclusion-body myopathies
- Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings
- Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle
- 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
- Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle
- Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
- Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
- In inclusion-body myositis muscle fibers Parkinson-associated DJ-1 is increased and oxidized
- Inclusion body myositis
- Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander)
- Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
- Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles
- Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
- Molecular pathomechanism of distal myopathy with rimmed vacuoles
- Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
- Nebulin expression in patients with nemaline myopathy
- Non-specific accumulation of glycosphingolipids in GNE myopathy
- Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
- Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients
- Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
- Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
- Novel GNE mutations in two phenotypically distinct HIBM2 patients
- Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
- Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family
- Oculopharyngeal muscular dystrophy: clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type
- Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
- Overview of distal myopathies: from the clinical to the molecular
- Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus
- Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)
- Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran
- Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
- Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis
- Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
- Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey
- Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy
- Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles
- Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)
- Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery
- The proteomic profile of hereditary inclusion body myopathy
- The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
- Toward deconstructing the phenotype of late-onset Pompe disease
- Twisted tubulofilaments of inclusion body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau
- Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
- Validation of GNE:p.M712T identification by melting curve analysis
- Variable phenotypes of knockin mice carrying the M712T Gne mutation
- Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies