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1956 1
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Page 1
GNE myopathy: History, etiology, and treatment trials.
Mullen J, Alrasheed K, Mozaffar T. Mullen J, et al. Front Neurol. 2022 Oct 18;13:1002310. doi: 10.3389/fneur.2022.1002310. eCollection 2022. Front Neurol. 2022. PMID: 36330422 Free PMC article. Review.
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. ...Muscle biopsy shows atrophic fibers and rimmed vacuoles without inflammation. Inherited in an autosomal recessive manner, patients with GNE myopathy carry mutations i …
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. ...Muscle biopsy shows atrophic fibe …
GNE Myopathy.
Carrillo N, Malicdan MC, Huizing M. Carrillo N, et al. 2004 Mar 26 [updated 2020 Apr 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Mar 26 [updated 2020 Apr 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301439 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis weakness. ...In advanced stages, neck and core muscles can become affected. DIAGNOSIS/TEST …
CLINICAL CHARACTERISTICS: GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years wit …
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N, Malicdan MC, Huizing M. Carrillo N, et al. Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y. Neurotherapeutics. 2018. PMID: 30338442 Free PMC article. Review.
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is ca …
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle …
[GNE myopathy].
Urtizberea JA, Béhin A. Urtizberea JA, et al. Med Sci (Paris). 2015 Nov;31 Spec No 3:20-7. doi: 10.1051/medsci/201531s306. Epub 2015 Nov 6. Med Sci (Paris). 2015. PMID: 26546927 Free article. Review. French.
GNE myopathy is a rare neuromuscular disease whose description is fairly recent. ...This myopathy is due to mutations in the GNE gene encoding a bifunctional enzyme, the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. ...
GNE myopathy is a rare neuromuscular disease whose description is fairly recent. ...This myopathy is due to mutations in the GNE …
GNE myopathy: from clinics and genetics to pathology and research strategies.
Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A. Pogoryelova O, et al. Orphanet J Rare Dis. 2018 May 2;13(1):70. doi: 10.1186/s13023-018-0802-x. Orphanet J Rare Dis. 2018. PMID: 29720219 Free PMC article. Review.
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. ...Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Tra …
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelch …
GNE myopathy: Don't sleep on the platelets.
Beecher G, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Mar;65(3):263-265. doi: 10.1002/mus.27477. Epub 2022 Jan 11. Muscle Nerve. 2022. PMID: 34931325 No abstract available.
Recent advances in establishing a cure for GNE myopathy.
Yoshioka W, Nishino I, Noguchi S. Yoshioka W, et al. Curr Opin Neurol. 2022 Oct 1;35(5):629-636. doi: 10.1097/WCO.0000000000001090. Epub 2022 Aug 11. Curr Opin Neurol. 2022. PMID: 35959526 Review.
PURPOSE OF REVIEW: GNE myopathy is a rare autosomal recessive disease caused by biallelic variants in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. No drugs are approved for the treatment of GNE myopathy. Following proof-of-conce …
PURPOSE OF REVIEW: GNE myopathy is a rare autosomal recessive disease caused by biallelic variants in the GNE gene, which enco …
GNE myopathy: current update and future therapy.
Nishino I, Carrillo-Carrasco N, Argov Z. Nishino I, et al. J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-92. doi: 10.1136/jnnp-2013-307051. Epub 2014 Jul 7. J Neurol Neurosurg Psychiatry. 2015. PMID: 25002140 Free PMC article. Review.
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. . …
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single prote …
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities. ...
Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE …
The role of amyloid beta in the pathological mechanism of GNE myopathy.
Zhang T, Shang R, Miao J. Zhang T, et al. Neurol Sci. 2022 Nov;43(11):6309-6321. doi: 10.1007/s10072-022-06301-7. Epub 2022 Jul 29. Neurol Sci. 2022. PMID: 35904705 Free PMC article. Review.
GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy mainly focuses on a sialic acid deficiency caused by a mutation in the GNE gene, but it h …
GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extrem …
825 results