Congenital disorders of glycosylation: what clinicians need to know?
P Lipiński, A Tylki-Szymańska - Frontiers in pediatrics, 2021 - frontiersin.org
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …
disorders characterized by defects in the synthesis of glycans and their attachment to …
Recent advancements in understanding mammalian O-mannosylation
The post-translational glycosylation of select proteins by O-linked mannose (O-mannose or
O-man) is a conserved modification from yeast to humans and has been shown to be …
O-man) is a conserved modification from yeast to humans and has been shown to be …
To be, or not to be… Guillain-Barré Syndrome
Abstract Guillain-Barré Syndrome (GBS) is currently the most frequent cause of acute flaccid
paralysis on a global scale, being an autoimmune disorder wherein demyelination of the …
paralysis on a global scale, being an autoimmune disorder wherein demyelination of the …
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus
A Etchegaray, S Juarez-Peñalva, F Petracchi… - Child's Nervous …, 2020 - Springer
Background Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather
than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex …
than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex …
Separation and identification of permethylated glycan isomers by reversed phase nanoLC-NSI-MSn
HPLC has been employed for decades to enhance detection sensitivity and quantification of
complex analytes within biological mixtures. Among these analytes, glycans released from …
complex analytes within biological mixtures. Among these analytes, glycans released from …
Clinical and molecular spectrum of muscular dystrophies (MDs) with intellectual disability (ID): A comprehensive overview
M Mohamadian, M Rastegar, N Pasamanesh… - Journal of Molecular …, 2022 - Springer
Muscular dystrophies encompass a wide and heterogeneous subset of hereditary
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …
Advances in imaging of brain abnormalities in neuromuscular disease
C Angelini, E Pinzan - Therapeutic advances in neurological …, 2019 - journals.sagepub.com
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described
in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive …
in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive …
Ribbon synapses and retinal disease
CE Frederick, D Zenisek - International Journal of Molecular Sciences, 2023 - mdpi.com
Synaptic ribbons are presynaptic protein complexes that are believed to be important for the
transmission of sensory information in the visual system. Ribbons are selectively associated …
transmission of sensory information in the visual system. Ribbons are selectively associated …
Information-based analysis of the relationship between brain and facial muscle activities in response to static visual stimuli
M Soundirarajan, N Pakniyat, S Sim… - … and Health Care, 2021 - content.iospress.com
BACKGROUND: Human facial muscles react differently to different visual stimuli. It is known
that the human brain controls and regulates the activity of the muscles. OBJECTIVE: In this …
that the human brain controls and regulates the activity of the muscles. OBJECTIVE: In this …