Results 111 to 120 of about 1,067 (171)

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.

, 2019
peer reviewedBACKGROUND AND OBJECTIVE: To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. METHODS: ClinBio-GNE is a natural history study in GNE myopathy.
Hogrel, Jean-Yves, Gidaro, Teresa, Marty, Benjamin, Araujo, Ericky CA, Carlier, Pierre G, Villeret, Melanie, Baudin, Pierre-Yves, Reyngoudt, Harmen, Behin, Anthony, Annoussamy, Melanie, Araujo, Ericky C. A., Servais, Laurent, Le Louer, Julien, Toumi, Ferial, Carlier, Pierre G.   +14 more
core   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. [PDF]

J Neuromuscul Dis, 2023
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.   +17 more
europepmc   +1 more source

Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy

, 2016
GNE myopathy is an autosomal recessive muscular disorder of young adults characterized by progressive skeletal muscle weakness and wasting. It is caused by a mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which
Bosch Morató, Mònica, 1986-, Vidal, Noemí, Querfurth, Henry, Muñoz López, Francisco José, 1964-, Valls Comamala, Victòria, 1987-, Guivernau Almazán, Biuse, 1988-, Olivé, Montse, Iriondo, Cinta   +7 more
core   +1 more source

GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report

Hematology
Background Congenital thrombocytopenia represents a diagnostically challenging group of disorders due to overlapping clinical presentations among various etiologies.Case Presentation A 3-month-old infant presented with severe thrombocytopenia (platelet ...
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser   +1 more
doaj   +1 more source

Panchakarma Based Therapeutic Interventions in GNE Myopathy- Insights Through A Case Study

GNE myopathy is a rare autosomal recessive muscular disorder characterized by progressive skeletal muscle atrophy, primarily due to mutations in the GNE gene.
Soundarya Nagappa Satapute, Shakuntala S Pujeri   +1 more
core   +1 more source

Two recurrent mutations are associated with GNE myopathy in the North of Britain

Objective GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing.
Chaouch A, Bushby K, Eagle M, Pogoryelova O, Lochmuller H, McConville J, Chinnery PF, Norwood F, Brennan KM, Stewart W, Horvath R, Longman C, Petty R, Morrison PJ, Healy E, Costigan D, Straub V, Evangelista T, Winer J, Polvikoski T, Sarkozy A, Hudson J, Farrugia ME   +22 more
core  

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. [PDF]

Genet Med, 2021
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA.   +21 more
europepmc   +1 more source

Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy. [PDF]

Drugs R D, 2021
Van Wart S, Mager DE, Bednasz CJ, Huizing M, Carrillo N.   +4 more
europepmc   +1 more source

Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients. [PDF]

Neuropathology, 2021
Kurashige T, Takahashi T, Nagano Y, Sugie K, Maruyama H.   +4 more
europepmc   +1 more source