Results 81 to 90 of about 417 (116)

Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]

Muscle Nerve, 2019
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M.   +10 more
europepmc   +1 more source

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis. [PDF]

J Neuromuscul Dis
Suzuki N, Mori-Yoshimura M, Nishino I, Aoki M.   +3 more
europepmc   +1 more source

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances. [PDF]

Ann Indian Acad Neurol
Yoshioka W, Noguchi S, Nishino I.
europepmc   +1 more source

Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. [PDF]

Front Neurosci, 2018
Lu Y, Da YW, Zhang YB, Li XG, Wang M, Di L, Pang M, Lei L.   +7 more
europepmc   +1 more source

Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice. [PDF]

Blood Adv
Huang L, Kondo Y, Cao L, Han J, Li T, Zuo B, Yang F, Li Y, Ma Z, Bai X, Jiang M, Ruan C, Xia L.   +12 more
europepmc   +1 more source

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population. [PDF]

Orphanet J Rare Dis
Xing Y, Zhao L, Zhao R, Liu Q, Wang J, Wang L, Zhang W, Guo J, Zhao R, Chang X.   +9 more
europepmc   +1 more source

Normal and Dysregulated Sphingolipid Metabolism: Contributions to Podocyte Injury and Beyond. [PDF]

Cells
Tolerico M, Merscher S, Fornoni A.
europepmc   +1 more source

Treatment guidelines for idiopathic inflammatory myopathies in adults: a comparative review. [PDF]

Rheumatology (Oxford)
Paik JJ, Werth VP, Chinoy H, Masri KR, Jambekar A, Hasan F, Borlenghi CE, Gold DA.   +7 more
europepmc   +1 more source

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.   +21 more
europepmc   +1 more source

Digital restoration and feature recognition of a Qing-Dynasty vernacular dwelling based on multimodal data fusion. [PDF]

Sci Rep
Xia X, Chen Z, Xu Y.
europepmc   +1 more source