Results 111 to 120 of about 990 (176)

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

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

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

GNE myopathy: new name and new mutation nomenclature.

Neuromuscular Disorders, 2014
M. Huizing, Nuria Carrillo-Carrasco, M. Malicdan, S. Noguchi, W. Gahl, S. Mitrani-Rosenbaum, Z. Argov, I. Nishino   +7 more
semanticscholar   +1 more source

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Journal of Clinical Investigation, 2007
B. Galeano, R. Klootwijk, I. Manoli, Maosen Sun, C. Ciccone, D. Darvish, M. Starost, P. Zerfas, V. Hoffmann, S. Hoogstraten-Miller, D. Krasnewich, W. Gahl, M. Huizing   +12 more
semanticscholar   +1 more source

Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.

Human Molecular Genetics, 2016
Songqing Li, Peipei Zhang, Brian D. Freibaum, Nam Chul Kim, Regina-Maria Kolaitis, A. Molliex, A. Kanagaraj, I. Yabe, M. Tanino, S. Tanaka, H. Sasaki, E. Ross, J. Paul Taylor, Hong Joo Kim   +13 more
semanticscholar   +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

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

UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis. [PDF]

Top Curr Chem, 2015
Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M.   +4 more
europepmc   +1 more source

Genetics in inclusion body myositis. [PDF]

Curr Opin Rheumatol, 2017
Rothwell S, Lilleker JB, Lamb JA.
europepmc   +1 more source

Parasitological and microbiological assessment of contact lens storage cases: a survey of asymptomatic lens student wearers from five medical specialties in Tunisia, North Africa. [PDF]

BMC Infect Dis
Belgacem S, Chaâbane-Banaoues R, Mejri A, Ifa SB, Mastouri M, Babba H.   +5 more
europepmc   +1 more source