Concepedia

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Madoka Mori‐Yoshimura, Kazunari Monma, Naoki Suzuki, Masashi Aoki, Toshihide Kumamoto, Keiko Tanaka, Hiroyuki Tomimitsu, Satoshi Nakano, Masahiro Sonoo, Jun Shimizu,

Journal of the Neurological Sciences · 2012 · 54 citations · 20 references

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References

20

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha et al. · Nature Genetics · 2001 · 528 citations

, , +9

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

M.L.C. Hagemans · Brain · 2005 · 366 citations · Full text

, , +16

The changing natural history of spinal muscular atrophy type 1

Maryam Oskoui, Gilberto Levy, Connie Garland et al. · Neurology · 2007 · 318 citations

, , +17

UDP-GlcNAc 2-Epimerase: A Regulator of Cell Surface Sialylation

Oliver T. Keppler, Stephan Hinderlich, Josmar Langner et al. · Science · 1999 · 316 citations

, , +16

“Rimmed vacuole myopathy” sparing the quadriceps

Zohar Argov, R. Yarom · Journal of the Neurological Sciences · 1984 · 269 citations

, , +8