Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1016/S1471-4914(01)02089-5 Corpus ID: 5825026Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. @article{Sanoudou2001ClinicalAG, title={Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.}, author={D. Sanoudou and A. Beggs}, journal={Trends in molecular medicine}, year={2001}, volume={7 8}, pages={ 362-8 } } D. Sanoudou, A. Beggs Published 2001 Biology, Medicine Trends in molecular medicine The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characterized by the presence of nemaline rods in muscles of affected individuals. Disease severity is variable and unpredictable, with prognosis ranging from neonatal death to almost normal motor function. Recent advances in the identification of NM disease genes demonstrate that NM is a disease of the skeletal muscle sarcomere and, in particular, of the thin filaments. These… Expand View on PubMed childrenshospital.org Save to Library Create Alert Cite Launch Research Feed Share This Paper 149 CitationsHighly Influential Citations 8 Background Citations 70 Methods Citations 1 Results Citations 2 View All Figures, Tables, and Topics from this paper table 1 figure 1 figure 2 figure 3 Myopathy Myopathies, Nemaline Muscle Weakness Cessation of life Hereditary Diseases Sarcomeres Rod Photoreceptors 149 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations P. Agrawal, C. D. Strickland, +9 authors A. Beggs Biology 2004 107 View 2 excerpts, cites background Save Alert Research Feed Molecular diagnosis of myopathies. Andrew Gómez-Vargas, S. Baker Medicine Rheumatic diseases clinics of North America 2011 1 Save Alert Research Feed Craniofacial Manifestations in Severe Nemaline Myopathy Yunfeng Xue, P. Magoulas, J. Wirthlin, E. Buchanan Medicine The Journal of craniofacial surgery 2017 2 View 2 excerpts, cites background Save Alert Research Feed Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression D. Sanoudou, Leslie A Frieden, J. N. Haslett, A. Kho, A. Beggs Biology, Medicine Neurobiology of Disease 2004 12 View 1 excerpt, cites background Save Alert Research Feed Sarcomere Dysfunction in Nemaline Myopathy J. D. de Winter, C. Ottenheijm Biology, Medicine Journal of neuromuscular diseases 2017 22 PDF View 1 excerpt, cites background Save Alert Research Feed [Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate]. S. Şahin, M. Oncel, D. Bidev, N. Okur, Beril Talim, S. Oguz Medicine Archivos argentinos de pediatria 2019 PDF Save Alert Research Feed Clinical and pathologic aspects of congenital myopathies I. Nonaka Biology 2001 1 Save Alert Research Feed Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci P. Jeannet, L. Mittaz, M. Dunand, J. Lobrinus, T. Kuntzer Biology, Medicine Neuromuscular Disorders 2007 12 Highly Influenced View 4 excerpts, cites background Save Alert Research Feed Clinical and pathologic aspects of congenitalmyopathies I. Nonaka 2003 PDF Save Alert Research Feed Clinical and pathological features of patients with nemaline myopathy. X. Yin, C. Q. Pu, Q. Wang, J. Liu, Y. L. Mao Biology, Medicine Molecular medicine reports 2014 10 Save Alert Research Feed ... 1 2 3 4 5 ... References SHOWING 1-10 OF 55 REFERENCES SORT BYRelevance Most Influenced Papers Recency Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene B. Ilkovski, S. Cooper, +13 authors K. 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Hardeman Biology, Medicine Human molecular genetics 2001 93 PDF Save Alert Research Feed Intranuclear rods in severe congenital nemaline myopathy Z. Rifai, A. M. Kazee, C. Kamp, R. Griggs Biology, Medicine Neurology 1993 38 Save Alert Research Feed Congenital nemaline myopathy. I. Defective organization of α‐actinin is restricted to muscle F. Jennekens, John J. Roord, H. Veldman, J. Willemse, B. Jockusch Medicine Muscle & nerve 1983 21 Save Alert Research Feed A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. J. Johnston, R. Kelley, +6 authors L. Biesecker Biology, Medicine American journal of human genetics 2000 262 PDF Save Alert Research Feed Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. K. Pelin, P. Hilpelä, +17 authors C. Wallgren‐Pettersson Biology, Medicine Proceedings of the National Academy of Sciences of the United States of America 1999 284 PDF Save Alert Research Feed ... 1 2 3 4 5 ... 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