Results 91 to 100 of about 417 (116)

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

CDG Therapies: From Bench to Bedside. [PDF]

Int J Mol Sci, 2018
Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V.   +8 more
europepmc   +1 more source

Inclusion body myositis - pathomechanism and lessons from genetics. [PDF]

Open Med (Wars), 2015
Murnyák B, Bodoki L, Vincze M, Griger Z, Csonka T, Szepesi R, Kurucz A, Dankó K, Hortobágyi T.   +8 more
europepmc   +1 more source

Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy. [PDF]

Cells
García-Rubio A, De Los Santos JS, Izquierdo JM.   +2 more
europepmc   +1 more source

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. [PDF]

J Neuromuscul Dis
Roos A, Häusler M, Kollipara L, Topf A, Preusse C, Stucka R, Nolte K, Strom T, Berutti R, Jiang X, Koll R, Lochmüller H, Schacht SM, Zahedi RP, Weis J, Senderek J.   +15 more
europepmc   +1 more source

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Muscle and Nerve, 2017
International audienceIntroduction: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates
Nicolas Levy, Svetlana Gorokhova, Anthony Béhin   +2 more
exaly   +2 more sources