Results 11 to 20 of about 2,944 (151)

GNE (Nonaka) distal myopathy with moderately high CPK and slow progression – A Sri Lankan case with a novel genetic variant [PDF]

Journal of the Neurological Sciences, 2023
Ravindra Inaththappulige, Ishani Rajapakshe, Bimsara Senanayake   +2 more
openalex   +2 more sources

Nonaka Myopathy—Adult Distal-onset Myopathy with Unique Topographical Weakness: A Case Report

Journal of Mahatma Gandhi University of Medical Sciences and Technology
Amit Agarwal, Vineet Kumar Mishra, R. K. Sureka, Jatinkumar Jain, Himanshu Kaushal   +4 more
openalex   +2 more sources

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. [PDF]

Muscle Nerve
Abstract Introduction/Aims Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis‐like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB.   +19 more
europepmc   +2 more sources

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. [PDF]

Hum Mutat
GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy of these estimates is limited by underdiagnosis, misdiagnosis, and bias introduced by founder ...
Derksen A, Thompson R, Shaikh M, Spendiff S, Perkins TJ, Lochmüller H.   +5 more
europepmc   +2 more sources

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Clinical Case Reports, Volume 10, Issue 4, April 2022., 2022
A novel insertion mutation c.*1037_*1038CACACACACACACACACACACA was identified in a GNE myopathy patient with congenital thrombocytopenia. The patient's congenital thrombocytopenia was found prior to the muscle weakness. Abstract We reported a GNE myopathy with congenital thrombocytopenia on a young male patient.
Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao   +4 more
wiley   +1 more source

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10494-10503, November 2021., 2021
Abstract GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder.
Kai‐Yue Zhang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Kun Huang, Huan Yang   +6 more
wiley   +1 more source

Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]

PLoS ONE, 2009
UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell Mackenzie, Hee-Won Park   +4 more
doaj   +1 more source

Sialylation acts as a checkpoint for innate immune responses in the central nervous system

Glia, Volume 69, Issue 7, Page 1619-1636, July 2021., 2021
Main Points Sialic acid residues coat CNS cells, particularly neurons, and are added by sialyltransferases and removed by neuraminidases. Sialylation is sensed by complement factors and SIGLECs, thereby acting as a checkpoint for innate immunity in the CNS.
Christine Klaus, Huan Liao, David H. Allendorf, Guy C. Brown, Harald Neumann   +4 more
wiley   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source