Results 131 to 140 of about 1,995 (205)

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre. [PDF]

J Cell Mol Med, 2021
Zhang KY, Duan HQ, Li QX, Luo YB, Bi FF, Huang K, Yang H.   +6 more
europepmc   +1 more source

Development of models to determine dynamic GNE expression in vivo to aid resolution of sialic acid dysfunction associated with Hereditary Inclusion Body Myopathy [PDF]

, 2010
Dissertação de Mestrado em Biotecnologia para as Ciências da SaúdeOs ácidos siálicos ocorrem maioritariamente como componentes terminais da superfície celular de glicoproteínas e glicolípidos, desempenhando um papel essencial na diversidade biológica dos
Pereira, Sofia Melo
core   +1 more source

74 An approach to GNE myopathy: a tale of two sisters presenting with bilateral foot drop [PDF]

Johnson Rebecca, Trivedi Jimish, Radunovic Aleksandar, Ingle Gordon   +3 more
openalex   +1 more source

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient [PDF]

, 2017
Eduardo de Paula Estephan, Cristiane Araújo Martins Moreno, André Macedo Serafim da Silva, Rodrigo de Holanda Mendonça, Osório Lopes Abath Neto, Patrícia Yoshi Nishimura, Layla Testa Galindo, Edmar Zanoteli   +7 more
openalex   +1 more source

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network [PDF]

, 2016
Akemi Tamaura, En Kimura, Eri Takeshita, Harumasa Nakamura, Hirofumi Komaki, Katsuhisa Ogata, Maki Ohata, Reiko Shimizu, Shin’ichi Takeda   +8 more
core   +1 more source

Wolman’s Disease and GNE Myopathy Frequency to Religion

, 2023
James S. Jackson, R. T. Turner, K Yukutake, Elmira Baghdasaryan, St. Denis E, Tigran Barseghyan, Safedin Begaj, Marvin Pietruszka, Yadira Valles‐Ayoub   +8 more
openalex   +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

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy. [PDF]

J Neuromuscul Dis, 2022
Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, Argov Z, Fellig Y, Harazi A.   +5 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
Mònica Bosch-Morató, Cinta Iriondo, Biuse Guivernau, Victòria Valls-Comamala, Noemí Vidal, Montse Olivé, Henry Querfurth, Francisco J. Muñoz   +7 more
openalex   +2 more sources

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