Results 181 to 185 of about 1,745 (185)

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

Clinical Neurology and Neurosurgery, 2007
Hung-Chou Kuo
exaly  

Reducing bodies in distal myopathy with rimmed vacuole formation

Acta Neuropathologica, 1995
exaly  

A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

Neuromuscular Disorders, 2004
exaly  

Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles

Muscle and Nerve, 2000
exaly  

[Chronic thyrotoxic myopathy resembling the distal myopathy with rimmed vacuoles--a case report].

Rinsho shinkeigaku = Clinical neurology, 1987
I, Tsuchiya, K, Sahashi, T, Ibi, M, Kayama, H, Koga   +4 more
openaire   +1 more source