Results 81 to 90 of about 43,935 (132)

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

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source

Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report. [PDF]

Ann Med Surg (Lond)
Farooq B, Qureshi ZH, Lodhi MS, Faisal M, Khan E, Khalid M.   +5 more
europepmc   +1 more source

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). [PDF]

J Neuropathol Exp Neurol
Merlet AN, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot MC, Noury JB, Fradin M, Savarese M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T.   +20 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy. [PDF]

MicroPubl Biol
Parker O, Woods J, Rothkopf M, Drach D, Wetzel HN, Crowe KE.   +5 more
europepmc   +1 more source

<i>GNE</i>-related severe congenital macro-thrombocytopenia in pregnancy. [PDF]

Obstet Med
P S, Pegu B, Subbaiah M, D P, Manivannan P, Dorairajan G.   +5 more
europepmc   +1 more source

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression. [PDF]

Cells
Neu CT, Antonopoulos A, Dell A, Haslam SM, Horstkorte R.   +4 more
europepmc   +1 more source

Absolute bioavailability and intravenous pharmacokinetics of N-acetyl-D-mannosamine in humans. [PDF]

Br J Clin Pharmacol
Meola TR, Ludbrook G, Fornasini G, Pavlova O, Jain S, Evans AM, Reuter SE.   +6 more
europepmc   +1 more source

Missense variants in TUBA4A cause myo-tubulinopathies. [PDF]

Brain
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, van Beek R, Gardeitchik T, Kamsteeg EJ, Medici E, Donker Kaat L, Nemoto J, Komaki H, Okabe T, Kimoto Y, Tokito T, Nakanowatari M, Oya Y, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Genetti CA, Valivullah ZM, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Milic Rasic V, Kovacevic G, Kosac A, Moreno CAM, Gontijo Camelo C, Zanoteli E, Habib C, Fahey MC, Beggs AH, Poulsen NS, Vissing J, Straub V, Savarese M, Tasca G, Voermans NC, Laing NG, Udd B, Nishino I, Ravenscroft G.   +65 more
europepmc   +1 more source