Results 61 to 70 of about 1,200 (179)

Variability of Water T2 Times in Quantitative Muscle MRI: Considerations and Methodological Factors—A Narrative Review

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Quantitative muscle imaging (qMRI) is an established method for detecting muscular changes, particularly in the diagnosis and follow‐up of conditions as muscular injuries and neuromuscular diseases. While global T2 reflects all tissue components and cannot reliably indicate disease activity in fat‐replaced muscles, water T2 times (wT2) can ...
Johanna Thomä, Lionel Butry, Johannes Forsting, Martijn Froeling, Lara Schlaffke   +4 more
wiley   +1 more source

Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy

Molecular Genetics and Metabolism
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in the GNE gene that encodes for a bifunctional enzyme required for sialic acid biosynthesis, resulting in progressive muscle atrophy and weakness ...
Pereira, Beatriz L., Barbosa, Mariana, Granjo, Pedro, Lochmüller, Hanns, Videira, Paula A.   +4 more
openaire   +2 more sources

Cell stress molecules in the skeletal muscle of GNE myopathy [PDF]

BMC Neurology, 2013
Abstract Background Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive.
Fischer, Charlotte, Kleinschnitz, Konstanze, Wrede, Arne, Muth, Ingrid E., Kruse, Niels, Nishino, Ichizo, Schmidt, Jens   +6 more
openaire   +3 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source

Role of IGF-1R in ameliorating apoptosis of GNE deficient cells

Scientific Reports, 2018
Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh, Priyanka Chaudhary, Ranjana Arya   +2 more
doaj   +1 more source

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]

PLoS ONE, 2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis   +7 more
doaj   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies

European Journal of Neurology, Volume 32, Issue 10, October 2025.
ABSTRACT Background and Purpose Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding these conditions.
David Gómez‐Andrés, Laura Costa‐Comellas, Jordi Díaz‐Manera, Katrin Õunap, Mireia Álvarez‐Molinero, Gabriela Urcuyo, Marco Savarese, Francina Munell, Bjarne Udd   +8 more
wiley   +1 more source

Unfolded protein response and activated degradative pathways regulation in GNE myopathy.

PLoS ONE, 2013
Although intracellular beta amyloid (Aβ) accumulation is known as an early upstream event in the degenerative course of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, the process by which Aβdeposits initiate various ...
Honghao Li, Qi Chen, Fuchen Liu, Xuemei Zhang, Wei Li, Shuping Liu, Yuying Zhao, Yaoqin Gong, Chuanzhu Yan   +8 more
doaj   +1 more source