Results 121 to 130 of about 1,629 (185)

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

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +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

GNE myopathy [PDF]

, 2020
openaire   +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

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre [PDF]

, 2019
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort of 100 complex adult myopathy cases who remained ...
Blake, JC, Bugiardini, E, Carr, AS, Cortese, A, Feng, L, Gang, Q, Hanna, MG, Holton, J, Houlden, H, Khan, A, Lynch, DS, Matthews, E, Morrow, JM, Parton, M, Phadke, R, Pittman, AM, Quinlivan, R, Reilly, MM, Rossor, AM, Turner, C   +19 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

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