Results 111 to 120 of about 1,189 (168)

[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
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Distal myopathy with rimmed vacuoles

Neuromuscular Disorders, 1998
Distal myopathy with rimmed vacuoles is an autosomal recessively inherited disorder with preferential involvement of the anterior tibial muscle. Recently the gene was discovered to be mapped to chromosome 9, the same region as in familial inclusion body myopathy (rimmed vacuole myopathy sparing the quadriceps).
I, Nonaka, N, Murakami, Y, Suzuki, M, Kawai   +3 more
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P2.06 Distal myopathy with rimmed vacuoles presenting with slow progression

Neuromuscular Disorders, 2010
Yasuko Sakai, Yasuhiro Manabe, Daiji FUJII, S. Kono, Hisashi Narai, N. Omori, Kazunari Monma, Ichizo Nishino, Kōji Abe   +8 more
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Atypical Parkinsonism in distal myopathy with rimmed vacuoles

Movement Disorders, 2008
AbstractA patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene ...
Tomohiko, Ishihara, Tetsutaro, Ozawa, Shuichi, Igarashi, Yuko, Kitsukawa, Masahito, Takagi, Masaki, Hirose, Takayoshi, Tokutake, Keiko, Tanaka, Masatoyo, Nishizawa   +8 more
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[Distal myopathy with rimmed vacuoles].

Ryoikibetsu shokogun shirizu, 2001
Hidehiro Mizusawa
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Distal myopathy with rimmed vacuoles (DMRV)

Neurology, 2004
Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy.
H, Tomimitsu, J, Shimizu, K, Ishikawa, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Neurology, 2003
Stephan Hinderlich, I. Salama, Iris Eisenberg, Stella Mitrani‐Rosenbaum   +3 more
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Muscle fiber degeneration in distal myopathy with rimmed vacuole formation

Acta Neuropathologica, 1994
In 11 patients with distal myopathy with rimmed vacuole formation (DMRV), a well-known autosomal recessively inherited disorder, the rimmed vacuole formation appears to be the main pathological change accounting for the progressive muscle fiber degeneration.
N, Murakami, Y, Ihara, I, Nonaka
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Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles

Acta Neuropathologica, 2001
Rimmed vacuole formation, tubulofilamentous nuclear inclusions and muscle fiber atrophy are the characteristic pathological findings in distal myopathy with rimmed vacuoles (DMRV). Necrotic muscle fibers were few in number and did not appear to account for the muscle weakness, but the nuclear changes with myofibrillar degeneration followed by rimmed ...
C, Yan, K, Ikezoe, I, Nonaka
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GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

Neurology, 2003
The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not.
I, Yabe, T, Higashi, S, Kikuchi, H, Sasaki, T, Fukazawa, K, Yoshida, K, Tashiro   +6 more
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