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2. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ikeuchi T; Asaka T; Saito M; Tanaka H; Higuchi S; Tanaka K; Saida K; Uyama E; Mizusawa H; Fukuhara N; Nonaka I; Takamori M; Tsuji S Ann Neurol; 1997 Apr; 41(4):432-7. PubMed ID: 9124799 [TBL] [Abstract][Full Text] [Related]
3. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Nishino I; Noguchi S; Murayama K; Driss A; Sugie K; Oya Y; Nagata T; Chida K; Takahashi T; Takusa Y; Ohi T; Nishimiya J; Sunohara N; Ciafaloni E; Kawai M; Aoki M; Nonaka I Neurology; 2002 Dec; 59(11):1689-93. PubMed ID: 12473753 [TBL] [Abstract][Full Text] [Related]
4. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Arai A; Tanaka K; Ikeuchi T; Igarashi S; Kobayashi H; Asaka T; Date H; Saito M; Tanaka H; Kawasaki S; Uyama E; Mizusawa H; Fukuhara N; Tsuji S Ann Neurol; 2002 Oct; 52(4):516-9. PubMed ID: 12325084 [TBL] [Abstract][Full Text] [Related]
5. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I Hum Mol Genet; 2007 Nov; 16(22):2669-82. PubMed ID: 17704511 [TBL] [Abstract][Full Text] [Related]
6. 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 Sep; 29(1):83-7. PubMed ID: 11528398 [TBL] [Abstract][Full Text] [Related]
7. Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM. Malicdan MC; Noguchi S; Hayashi YK; Nishino I Physiol Genomics; 2008 Sep; 35(1):106-15. PubMed ID: 18628337 [TBL] [Abstract][Full Text] [Related]
8. Distal myopathy with rimmed vacuoles: report on clinical characteristics in 23 cases. Nalini A; Gayathri N; Dawn R Neurol India; 2010; 58(2):235-41. PubMed ID: 20508342 [TBL] [Abstract][Full Text] [Related]
14. [Clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles: study of 17 cases]. Chen Q; Yan CZ; Liu SP; Zhao YY; Li W; Wu JL; Li DN Zhonghua Yi Xue Za Zhi; 2008 May; 88(19):1313-7. PubMed ID: 18956699 [TBL] [Abstract][Full Text] [Related]
15. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I Hum Mol Genet; 2007 Jan; 16(2):115-28. PubMed ID: 17164266 [TBL] [Abstract][Full Text] [Related]
16. Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Ahlberg G; Borg K; Edström L; Anvret M Neuromuscul Disord; 1998 Apr; 8(2):111-4. PubMed ID: 9608564 [TBL] [Abstract][Full Text] [Related]
17. [Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family]. Uesaka Y; Nakamichi K; Kojima S; Ida M; Takagi A Rinsho Shinkeigaku; 1997 Jan; 37(1):1-6. PubMed ID: 9146065 [TBL] [Abstract][Full Text] [Related]
18. Rimmed, vacuolar distal myopathy in two Taiwanese siblings. Wu YR; Chen ST; So LS; Chen CJ J Formos Med Assoc; 1995 Dec; 94(12):750-3. PubMed ID: 8541738 [TBL] [Abstract][Full Text] [Related]
19. Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. Tajima Y; Uyama E; Go S; Sato C; Tao N; Kotani M; Hino H; Suzuki A; Sanai Y; Kitajima K; Sakuraba H Am J Pathol; 2005 Apr; 166(4):1121-30. PubMed ID: 15793292 [TBL] [Abstract][Full Text] [Related]
20. A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review. Malicdan MC; Noguchi S; Nishino I Ther Adv Neurol Disord; 2010 Mar; 3(2):127-35. PubMed ID: 21179605 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]