Results 151 to 160 of about 6,315 (194)
Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case. [PDF]
Ann Indian Acad NeurolYeşildaş PY, Özenç B.
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Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]
Eur J NeurolPayá M +14 more
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Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]
Front NeurolFan L, Shen Y, Wang J, Gan J.
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ManNAc attenuates Man5 glycoform abundance through GNE-mediated metabolic channeling of UDP-GlcNAc to N-glycosylation modifications via CMP-Neu5Ac biosynthesis. [PDF]
MAbsSun R +21 more
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Neurology India, 2013
GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathyOver the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases
Atchayaram, Nalini +3 more
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GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathyOver the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases
Atchayaram, Nalini +3 more
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Novel GNE compound heterozygous mutations in a GNE myopathy patient
Muscle & Nerve, 2013ABSTRACTIntroduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) and Z‐band alternatively spliced PDZ motif‐containing protein (ZASP) genes.
Huaying, Cai +8 more
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Biochimie, 2022
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy.
Sudha Bhattacharya +2 more
exaly +3 more sources
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy.
Sudha Bhattacharya +2 more
exaly +3 more sources
The International Journal of Biochemistry & Cell Biology, 2022
Limited treatment options and research in understanding the pathomechanisms of rare diseases has raised concerns about their therapeutic development. One such poorly understood ultra-rare neuromuscular disorder is GNE Myopathy (GNEM) which is caused due to mutation in key sialic acid biosynthetic enzyme, GNE.
Rashmi, Yadav +4 more
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Limited treatment options and research in understanding the pathomechanisms of rare diseases has raised concerns about their therapeutic development. One such poorly understood ultra-rare neuromuscular disorder is GNE Myopathy (GNEM) which is caused due to mutation in key sialic acid biosynthetic enzyme, GNE.
Rashmi, Yadav +4 more
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Konservative GNE oder chirurgisch unterstützte GNE – ein Grenzfall
Informationen aus Orthodontie & KieferorthopädieZusammenfassung Die transversale Erweiterung der Maxilla wird im Jugendalter häufig konservativ mit einer festsitzenden Gaumennahterweiterung (GNE) durchgeführt. Durch fortschreitende Obliteration der Sutura palatina mediana erfolgt die GNE nach Wachstumsende jedoch häufig ...
Tabea Glanz +2 more
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Medecine sciences : M/S, 2016
GNE myopathy is a rare neuromuscular disease whose description is fairly recent. It predominantly affects the adult population and is an inherited autosomal recessive disorder. Although universal and ubiquitous, GNE myopathy prevails in the Jewish community of Persian origin, living in Iran, Israel or in the United States.
J Andoni, Urtizberea, Anthony, Béhin
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GNE myopathy is a rare neuromuscular disease whose description is fairly recent. It predominantly affects the adult population and is an inherited autosomal recessive disorder. Although universal and ubiquitous, GNE myopathy prevails in the Jewish community of Persian origin, living in Iran, Israel or in the United States.
J Andoni, Urtizberea, Anthony, Béhin
openaire +1 more source