Research & Literature

Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.

Liu N, Wang ZK, Wang HX, et al.

Neuroreport 2015; (26(10)):598-601 doi:10.1097/WNR.0000000000000396.

[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].

Mori-Yoshimura M, Nishino I

Brain and nerve = Shinkei kenkyu no shinpo 2015; (67(9)):1115-23 doi:10.11477/mf.1416200269.

[GNE myopathy].

Urtizberea JA, Béhin A

Medecine sciences : M/S 2015; (31 Spec No 3()):20-7 doi:10.1051/medsci/201531s306.

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature.

Das B, Goyal MK, Bhatkar SR, et al.

Annals of Indian Academy of Neurology 2016; (19(1)):119-22 doi:10.4103/0972-2327.167709.

Muscle biopsies from human muscle diseases with myopathic pathology reveal common alterations in mitochondrial function.

Sunitha B, Gayathri N, Kumar M, et al.

Journal of neurochemistry 2016; (138(1)):174-91 doi:10.1111/jnc.13626.

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.

Bennmann D, Weidemann W, Thate A, et al.

The FEBS journal 2016; (283(12)):2285-94 doi:10.1111/febs.13729.

Beneficial effects of ankle-foot orthosis daytime use on the gait of Duchenne muscular dystrophy patients.

de Souza MA, Figueiredo MM, de Baptista CR, et al.

Clinical biomechanics (Bristol, Avon) 2016; (35()):102-10.

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation.

Diniz G, Secil Y, Ceylaner S, et al.

Case reports in neurological medicine 2016; (2016()):8647645 doi:10.1155/2016/8647645.

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.

Argov Z, Caraco Y, Lau H, et al.

Journal of neuromuscular diseases 2016; (3(1)):49-66 doi:10.3233/JND-159900.

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.

Chan YM, Lee P, Jungles S, et al.

PloS one 2017; (12(3)):e0173261 doi:10.1371/journal.pone.0173261.

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

Cho A, Christine M, Malicdan V, et al.

Human molecular genetics 2017; (26(16)):3081-3093 doi:10.1093/hmg/ddx192.

Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

Slota C, Bevans M, Yang L, et al.

Disability and rehabilitation 2018; (40(10)):1206-1213 doi:10.1080/09638288.2017.1283712.

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X, Wang AQ, Latham LL, et al.

Molecular genetics and metabolism 2017; (122(1-2)):126-134 doi:10.1016/j.ymgme.2017.04.010.

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale.

Mayhew J, Bonner N, Arbuckle R, et al.

Journal of comparative effectiveness research 2018; (7(4)):381-395 doi:10.2217/cer-2017-0062.

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

Pogoryelova O, Cammish P, Mansbach H, et al.

Neuromuscular disorders : NMD 2018; (28(2)):158-168 doi:10.1016/j.nmd.2017.11.001.

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.

Bhattacharya S, Khadilkar SV, Nalini A, et al.

Journal of neuromuscular diseases 2018; (5(1)):85-92 doi:10.3233/JND-170270.

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Alrohaif H, Pogoryelova O, Al-Ajmi A, et al.

Muscle & nerve 2018; (58(5)):700-707 doi:10.1002/mus.26337.

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Carrillo N, Malicdan MC, Huizing M

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2018; (15(4)):900-914 doi:10.1007/s13311-018-0671-y.

Slowly progressive distal muscle weakness: neuropathy or myopathy?

Nahari Y, Abbas A, Curtis E, Jacob S

BMJ case reports 2019; (12(4)) doi:10.1136/bcr-2018-226903.

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

Lochmüller H, Behin A, Caraco Y, et al.

Neurology 2019; (92(18)):e2109-e2117 doi:10.1212/WNL.0000000000006932.

Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.

Mishra SK, Valles-Ayoub Y, Darvish D, et al.

Journal of clinical neuromuscular disease 2019; (20(4)):210-213 doi:10.1097/CND.0000000000000231.

Progression of GNE Myopathy Based on the Patient-Reported Outcome.

Park YE, Kim DS, Choi YC, Shin JH

Journal of clinical neurology (Seoul, Korea) 2019; (15(3)):275-284 doi:10.3988/jcn.2019.15.3.275.

GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics.

Gomez G, Khanna M, Gupta A, et al.

Neuromuscular disorders : NMD 2019; (29(12)):961-967 doi:10.1016/j.nmd.2019.11.003.

Pathological findings in sporadic inclusion body myositis and GNE myopathy.

Zhang Y, Pu C, Lu X, et al.

International journal of clinical and experimental pathology 2018; (11(5)):2907-2911.

[Hereditary Polyneuropathies].

Ferbert A, Roth C

Fortschritte der Neurologie-Psychiatrie 2020; (88(3)):198-209 doi:10.1055/a-1009-2270.

A novel application of tau PET in the diagnosis of sporadic inclusion body myositis: A case report.

Zhang Y, Li K, Pu C, et al.

Medicine 2020; (99(31)):e21524 doi:10.1097/MD.0000000000021524.

Impaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient.

Suzuki T, Akatsuka H, Masuhara K, et al.

The Tokai journal of experimental and clinical medicine 2020; (45(4)):243-248.

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.

Lochmüller H, Behin A, Tournev I, et al.

Journal of neuromuscular diseases 2021; (8(2)):225-234 doi:10.3233/JND-200565.

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.

Carrillo N, Malicdan MC, Leoyklang P, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(11)):2067-2075 doi:10.1038/s41436-021-01259-x.

Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.

Mori-Yoshimura M, Kimura A, Tsuru A, et al.

Muscle & nerve 2022; (65(3)):284-290 doi:10.1002/mus.27451.

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy.

Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, et al.

Journal of neuromuscular diseases 2022; (9(1)):179-192 doi:10.3233/JND-210755.

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort.

Attri S, Sharma V, Kumar A, et al.

Open medicine (Warsaw, Poland) 2021; (16(1)):1733-1744 doi:10.1515/med-2021-0391.

Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan.

Yoshioka W, Shimizu R, Takahashi Y, et al.

Clinical neurology and neurosurgery 2022; (212()):107057 doi:10.1016/j.clineuro.2021.107057.

A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.

Xu L, Geng H, Lv X, et al.

Journal of human genetics 2022; (67(7)):441-444 doi:10.1038/s10038-022-01022-3.

Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.

Sharma S, Chanana P, Bharadwaj R, et al.

Biochimie 2022; (199()):36-45 doi:10.1016/j.biochi.2022.03.014.

The role of amyloid β in the pathological mechanism of GNE myopathy.

Zhang T, Shang R, Miao J

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(11)):6309-6321 doi:10.1007/s10072-022-06301-7.

Recent advances in establishing a cure for GNE myopathy.

Yoshioka W, Nishino I, Noguchi S

Current opinion in neurology 2022; (35(5)):629-636 doi:10.1097/WCO.0000000000001090.

GNE myopathy: History, etiology, and treatment trials.

Mullen J, Alrasheed K, Mozaffar T

Frontiers in neurology 2022; (13()):1002310 doi:10.3389/fneur.2022.1002310.

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Mori-Yoshimura M, Yajima H, Oya Y, et al.

BMJ neurology open 2022; (4(2)):e000362 doi:10.1136/bmjno-2022-000362.

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

Suzuki N, Mori-Yoshimura M, Katsuno M, et al.

Journal of neuromuscular diseases 2023; (10(4)):555-566 doi:10.3233/JND-230029.

Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.

Zygmunt DA, Lam P, Ashbrook A, et al.

Journal of neuromuscular diseases 2023; (10(5)):797-812 doi:10.3233/JND-221596.

[Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles].

Aoki M, Izumi R, Suzuki N

Brain and nerve = Shinkei kenkyu no shinpo 2023; (75(10)):1149-1154 doi:10.11477/mf.1416202492.

Computational insights into dynamics and conformational stability of N-acetylmannosamine kinase mutations.

Abdel-Naim AB, Kumar P, Bazuhair MA, et al.

Journal of biomolecular structure & dynamics 2025; (43(16)):8973-8983 doi:10.1080/07391102.2024.2323702.

Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy.

Mashangva F, Oswalia J, Singh S, Arya R

Biochemical pharmacology 2024; (223()):116199 doi:10.1016/j.bcp.2024.116199.

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.

Tamanna N, Pi BK, Lee AJ, et al.

Genes 2024; (15(4)) doi:10.3390/genes15040485.

Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

Yoshioka W, Nakamura H, Oba M, et al.

Journal of neurology 2024; (271(7)):4453-4461 doi:10.1007/s00415-024-12396-z.

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

Manis C, Casula M, Roos A, et al.

Molecules (Basel, Switzerland) 2024; (29(21)) doi:10.3390/molecules29215211.

[Aceneuraminic acid for distal myopathy].

Aoki M

Nihon yakurigaku zasshi. Folia pharmacologica Japonica 2025; (160(1)):48-52 doi:10.1254/fpj.24090.

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.

Suzuki N, Mori-Yoshimura M, Nishino I, Aoki M

Journal of neuromuscular diseases 2025; (12(2)):183-194 doi:10.1177/22143602241296226.

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

Xing Y, Zhao L, Zhao R, et al.

Orphanet journal of rare diseases 2025; (20(1)):161 doi:10.1186/s13023-025-03696-2.

Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.

Pugliese A, Sframeli M, D'Ambrosio P, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(9)):4645-4652 doi:10.1007/s10072-025-08265-w.

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.

Yoshioka W, Noguchi S, Nishino I

Annals of Indian Academy of Neurology 2025; (28(5)):631-639 doi:10.4103/aian.aian_837_25.

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy.

Kiyan E, Pihtili A, Durmus H, Parman Y

Annals of Indian Academy of Neurology 2026; (29(1)):67-70 doi:10.4103/aian.aian_725_25.