Article

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.
Neuromuscular Disorders (impact factor: 2.8). 04/2009; 19(4):300-5. DOI:10.1016/j.nmd.2009.02.002
Source: PubMed
0 0
 · 
0 Bookmarks
 · 
38 Views
  • Source
    Article: Tropomodulin capping of actin filaments in striated muscle development and physiology.
    David S Gokhin, Velia M Fowler
    [show abstract] [hide abstract]
    ABSTRACT: Efficient striated muscle contraction requires precise assembly and regulation of diverse actin filament systems, most notably the sarcomeric thin filaments of the contractile apparatus. By capping the pointed ends of actin filaments, tropomodulins (Tmods) regulate actin filament assembly, lengths, and stability. Here, we explore the current understanding of the expression patterns, localizations, and functions of Tmods in both cardiac and skeletal muscle. We first describe the mechanisms by which Tmods regulate myofibril assembly and thin filament lengths, as well as the roles of closely related Tmod family variants, the leiomodins (Lmods), in these processes. We also discuss emerging functions for Tmods in the sarcoplasmic reticulum. This paper provides abundant evidence that Tmods are key structural regulators of striated muscle cytoarchitecture and physiology.
    Journal of Biomedicine and Biotechnology 01/2011; 2011:103069. · 2.44 Impact Factor
  • Source
    Article: Consensus statement on standard of care for congenital myopathies.
    Ching H Wang, James J Dowling, Kathryn North, Mary K Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali Weiss, Marc Guillet, Kimberly Amburgey, [......], Nigel G Laing, Marion Main, Leslie A Morrison, Craig Munns, Kristy Rose, Pamela M Schuler, Caroline Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan
    [show abstract] [hide abstract]
    ABSTRACT: Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
    Journal of child neurology 03/2012; 27(3):363-82. · 1.59 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Nigel G Laing