Muscle & nerve. Supplement最新文献_第9页

Targeting disabled and at risk older adults for inclusion in population based studies. 针对残疾和有风险的老年人纳入基于人群的研究。

Muscle & nerve. Supplement Pub Date : 1997-01-01

J D Williamson, L P Fried

引用次数: 0

Statistical principles underlying the applications of laboratory methods to field studies. 将实验室方法应用于实地研究的统计原理。

Muscle & nerve. Supplement Pub Date : 1997-01-01

S S Guo, W Wisemandle, W C Chumlea, R M Siervogel

引用次数: 0

Neural strategies in the control of muscle force. 肌肉力量控制中的神经策略。

Muscle & nerve. Supplement Pub Date : 1997-01-01

R M Enoka

引用次数: 0

Muscle & nerve. Supplement Pub Date : 1997-01-01

L Larsson, X Li, F Yu, H Degens

引用次数: 0

Neural and Neuromuscular Aspects of Muscle Fatigue. Miami, Florida, November 10-13, 1994. Abstracts. 肌肉疲劳的神经和神经肌肉方面。1994年11月10日至13日，佛罗里达州迈阿密。摘要。

Muscle & nerve. Supplement Pub Date : 1996-01-01

引用次数: 0

Facioscapulohumeral muscular dystrophy in the Dutch population. 荷兰人群的面肩肱肌萎缩症。

Muscle & nerve. Supplement Pub Date : 1995-01-01

G W Padberg, R R Frants, O F Brouwer, C Wijmenga, E Bakker, L A Sandkuijl

引用次数: 0

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. Pearson综合征培养皮肤成纤维细胞和eb病毒转化淋巴细胞线粒体基因型的表型表达

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181431

A Rötig, T Bourgeron, P Rustin, A Munnich

引用次数: 11

Mitochondrial diabetes mellitus--glucose-induced signaling defects and beta-cell loss. 线粒体糖尿病——葡萄糖诱导的信号缺陷和β细胞损失。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181426

Y Oka, H Katagiri, H Ishihara, T Asano, M Kikuchi, T Kobayashi

{"title":"Mitochondrial diabetes mellitus--glucose-induced signaling defects and beta-cell loss.","authors":"Y Oka, H Katagiri, H Ishihara, T Asano, M Kikuchi, T Kobayashi","doi":"10.1002/mus.880181426","DOIUrl":"https://doi.org/10.1002/mus.880181426","url":null,"abstract":"Japanese diabetic patients whose mothers were also diabetic were screened, using peripheral leukocytes, for an A to G transition at nucleotide pair 3243 of the mitochondrial gene, a tRNA(Leu)(UUR) mutation. This mutation was identified in four pedigrees from among 300 unrelated patients. Diabetes mellitus cosegretated with the mutation, except in 1 young subject, and was maternally inherited. Long-term follow-up revealed that the underlying disorder in affected members is a progressive impairment of insulin secretion. In accord with this finding, this mutation was found to be highly prevalent in a subset of diabetes mellitus called slowly progressive IDDM; the mutation was identified in 3 of 27 Japanese patients enrolled in the prospective study of islet cell antibody (ICA)-positive, initially non-insulin-dependent diabetic patients, who are very likely to become insulin dependent in several years. The histologic characteristics of slowly progressive IDDM include loss, though incomplete, of pancreatic beta-cells. Mitochondrial gene defects in beta-cells could therefore cause glucose-induced signaling defects as well as beta-cell loss, which explains the wide range of diabetic phenotypes, from NIDDM phenotype to IDDM, in patients with this mitochondrial gene mutation.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S131-6"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181426","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18608053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency. 磷酸甘油酸激酶(PGK)缺乏的分子遗传异质性。

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181411

S Tsujino, S Shanske, S DiMauro

引用次数: 26

Myogenic hyperuricemia: what can we learn from metabolic myopathies? 肌源性高尿酸血症:我们能从代谢性肌病中学到什么?

Muscle & nerve. Supplement Pub Date : 1995-01-01 DOI: 10.1002/mus.880181416

I Mineo, S Tarui

{"title":"Myogenic hyperuricemia: what can we learn from metabolic myopathies?","authors":"I Mineo, S Tarui","doi":"10.1002/mus.880181416","DOIUrl":"https://doi.org/10.1002/mus.880181416","url":null,"abstract":"The association of muscle glycogenosis with hyperuricemia led to the identification of a unique purine disorder. Myogenic hyperuricemia is ascribed to excessive degradation of muscle purine nucleotides, secondary to impaired ATP generation. Although this pathophysiological condition has been observed not only in glycolytic defects but also in mitochondrial diseases affecting lipid and carbohydrate oxidation, it is most common and prominent in muscle phosphofructokinase deficiency, in which neither glycogen nor glucose can be used as metabolic fuels. The first key reaction of muscle purine degradation is catalysis by AMP deaminase. Numerous studies have indicated that AMP deaminase may play an important role in energy metabolism in contracting muscle. Arguments against this hypothesis have emerged through analyses on muscle AMP deaminase deficiency. According to a recent study, the mutant allele is extremely frequent among Caucasians and African-Americans, suggesting that many individuals with this enzyme defect may be clinically asymptomatic. Further study is required to explain the significance of muscle purine degradation in energy metabolism.","PeriodicalId":79355,"journal":{"name":"Muscle & nerve. Supplement","volume":"3 ","pages":"S75-81"},"PeriodicalIF":0.0,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/mus.880181416","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18608626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 22