Results 161 to 170 of about 1,745 (185)

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +2 more sources

[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles].

Brain and nerve = Shinkei kenkyu no shinpo, 2012
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disease that typically affects tibialis anterior and hamstring muscles in young adults although other muscles are also involved in later stages.
Ichizo, Nishino, Satoru, Noguchi
openaire   +1 more source

[MRI findings in studies of distal myopathy with rimmed vacuoles].

Rinsho shinkeigaku = Clinical neurology, 1990
A case of distal myopathy with rimmed vacuoles was studied with MRI, which showed a characteristic distribution of the affected muscles. A 41-year-old man who presented a slowly progressive weakness in his lower legs starting 11 years previously was admitted to our hospital of further investigation. Neurological examinations showed muscular wasting and
T, Mizuno, T, Motonaga, K, Yanagida, Y, Takanashi, K, Yamaguchi   +4 more
openaire   +1 more source

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

Brain and nerve = Shinkei kenkyu no shinpo, 2015
Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction.
Madoka, Mori-Yoshimura, Ichizo, Nishino
openaire   +1 more source

Distal myopathy with rimmed vacuole formation (DMRV)

Neuromuscular Disorders, 1997
Ikuya Nonaka, Nobuyuki Murakami, Mitsuru Kawai   +2 more
openaire   +1 more source

Sporadic early adult-onset distal myopathy with rimmed vacuoles: immunohistochemistry and electron microscopy.

Journal of the neurological sciences, 1996
We report the histoenzymology, immunohistochemistry and electron microscopy of the tibialis anterior muscle of a 50-year-old male patient affected by a sporadic distal myopathy with onset during adolescence. There was no family history of muscle disorder and no clinical signs of cardiomyopathy.
Ceuterick-de Groote, Chantal, Martin, Jean-Jacques   +1 more
openaire   +2 more sources

P2.06 Distal myopathy with rimmed vacuoles presenting with slow progression

Neuromuscular Disorders, 2010
Y. Sakai, Y. Manabe, D. Fujii, S. Kono, H. Narai, N. Omori, K. Monma, I. Nishino, K. Abe   +8 more
openaire   +1 more source

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Neurology, 2003
Stephan Hinderlich, Ilan Salama, Iris Eisenberg, Stella Mitrani–Rosenbaum   +3 more
openaire   +1 more source

A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia

Neurological Sciences, 2014
Changqing Zhen, Feng Guo, Xiaosheng Fang, Ying Liu, Xin Wang   +4 more
openaire   +1 more source

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

Annals of Neurology, 1997
Takeshi Ikeuchi, Shoji Tsuji, Keiko Tanaka   +2 more
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