10334995 |
UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation
Keppler, OT,
Hinderlich, S,
Langner, J,
Schwartz-Albiez, R,
Reutter, W,
Pawlita, M
|
Science |
1999 |
7252518 |
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
Nonaka, I,
Sunohara, N,
Ishiura, S,
Satoyoshi, E
|
J. Neurol. Sci. |
1981 |
11528398 |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Eisenberg, I,
Avidan, N,
Potikha, T,
Hochner, H,
Chen, M,
Olender, T,
Barash, M,
Shemesh, M,
Sadeh, M,
Grabov-Nardini, G,
Shmilevich, I,
Friedmann, A,
Karpati, G,
Bradley, WG,
Baumbach, L,
Lancet, D,
Asher, EB,
Beckmann, JS,
Argov, Z,
Mitrani-Rosenbaum, S
|
Nat. Genet. |
2001 |
12473780 |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
Broccolini, A,
Pescatori, M,
D'Amico, A,
Sabino, A,
Silvestri, G,
Ricci, E,
Servidei, S,
Tonali, PA,
Mirabella, M
|
Neurology |
2002 |
11916006 |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
Kayashima, T,
Matsuo, H,
Satoh, A,
Ohta, T,
Yoshiura, K,
Matsumoto, N,
Nakane, Y,
Niikawa, N,
Kishino, T
|
J. Hum. Genet. |
2002 |
12743242 |
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
Argov, Z,
Eisenberg, I,
Grabov-Nardini, G,
Sadeh, M,
Wirguin, I,
Soffer, D,
Mitrani-Rosenbaum, S
|
Neurology |
2003 |
12177386 |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene
Tomimitsu, H,
Ishikawa, K,
Shimizu, J,
Ohkoshi, N,
Kanazawa, I,
Mizusawa, H
|
Neurology |
2002 |
10330343 |
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
Seppala, R,
Lehto, VP,
Gahl, WA
|
Am. J. Hum. Genet. |
1999 |
10431835 |
Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis
Lucka, L,
Krause, M,
Danker, K,
Reutter, W,
Horstkorte, R
|
FEBS Lett. |
1999 |
15136692 |
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
Tomimitsu, H,
Shimizu, J,
Ishikawa, K,
Ohkoshi, N,
Kanazawa, I,
Mizusawa, H
|
Neurology |
2004 |