Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7
CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
Update on the molecular aspects and methods underlying the complex architecture of FSHD
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease …
[HTML][HTML] Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease
Gaucher disease is one of the most common lysosomal storage disorders. Osteonecrosis is
a principal clinical manifestation of Gaucher disease and often leads to joint collapse and …
a principal clinical manifestation of Gaucher disease and often leads to joint collapse and …
Assessing facial weakness in myasthenia gravis with facial recognition software and deep learning
Objective Myasthenia gravis (MG) is an autoimmune disease leading to fatigable muscle
weakness. Extra‐ocular and bulbar muscles are most commonly affected. We aimed to …
weakness. Extra‐ocular and bulbar muscles are most commonly affected. We aimed to …
Outcome measures in facioscapulohumeral muscular dystrophy clinical trials
M Ghasemi, CP Emerson Jr, LJ Hayward - Cells, 2022 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a
variable age of onset, severity, and progression. While there is still no cure for this disease …
variable age of onset, severity, and progression. While there is still no cure for this disease …
Application of DCE-MRI radiomics signature analysis in differentiating molecular subtypes of luminal and non-luminal breast cancer
T Huang, B Fan, Y Qiu, R Zhang, X Wang… - Frontiers in …, 2023 - frontiersin.org
Background The goal of this study was to develop and validate a radiomics signature based
on dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) preoperatively …
on dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) preoperatively …
[HTML][HTML] Artificial intelligence applications in the diagnosis of neuromuscular diseases: a narrative review
MC Piñeros-Fernández - Cureus, 2023 - ncbi.nlm.nih.gov
The accurate diagnosis of neuromuscular diseases (NMD) is in many cases difficult; the
starting point is the clinical approach based on the course of the disease and a careful …
starting point is the clinical approach based on the course of the disease and a careful …
MRI for the diagnosis of limb girdle muscular dystrophies
C Bolano-Díaz, J Verdú-Díaz… - Current Opinion in …, 2024 - journals.lww.com
Muscle MRI continues being a useful tool supporting the diagnosis of patients with LGMD
and other neuromuscular diseases. However, the huge variety of patterns described makes …
and other neuromuscular diseases. However, the huge variety of patterns described makes …
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches
D Gómez-Andrés, A Oulhissane… - Neuromuscular Disorders, 2021 - Elsevier
Muscle imaging has progressively gained popularity in the neuromuscular field. Together
with detailed clinical examination and muscle biopsy, it has become one of the main tools for …
with detailed clinical examination and muscle biopsy, it has become one of the main tools for …
[HTML][HTML] Differentiation of Early Sacroiliitis Using Machine-Learning-Supported Texture Analysis
Q Zhu, Q Wang, X Hu, X Dang, X Yu, L Chen… - Diagnostics, 2025 - pmc.ncbi.nlm.nih.gov
Objectives: We wished to compare the diagnostic performance of texture analysis (TA)
against that of a visual qualitative assessment in identifying early sacroiliitis (nr-axSpA) …
against that of a visual qualitative assessment in identifying early sacroiliitis (nr-axSpA) …