MeSH Review:
Myopathies, Nemaline
Schröder,
Reimann,
Salmikangas,
Clemen,
Hayashi,
Nonaka,
Arahata,
Carpén,
Davis,
Haan,
Jungbluth,
Sewry,
North,
Muntoni,
Kuntzer,
Lamont,
Bankier,
Tomlinson,
Sánchez,
Walsh,
Nagarajan,
Oley,
Colley,
Gedeon,
Quinlivan,
Dixon,
James,
Müller,
Laing,
Johnston,
Kelley,
Crawford,
Morton,
Agarwala,
Koch,
Schäffer,
Francomano,
Biesecker,
Goebel,
Warlo,
- A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Scacheri, P.C., Hoffman, E.P., Fratkin, J.D., Semino-Mora, C., Senchak, A., Davis, M.R., Laing, N.G., Vedanarayanan, V., Subramony, S.H. Neurology (2000)
- Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. Harati, Y., Niakan, E., Bloom, K., Casar, G. J. Neurol. Neurosurg. Psychiatr. (1987)
- Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion. Miike, T., Ohtani, Y., Tamari, H., Ishitsu, T., Une, Y. Brain Dev. (1986)
- Adult onset of nemaline myopathy presenting as respiratory insufficiency. Falgà-Tirado, C., Pérez-Pemán, P., Ordi-Ros, J., Bofill, J.M., Balcells, E. Respiration; international review of thoracic diseases. (1995)
- A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. Nat. Genet. (1995)
- Nemaline myopathy presenting as cardiomyopathy. Meier, C., Gertsch, M., Zimmerman, A., Voellmy, W., Geissbühler, J. N. Engl. J. Med. (1983)
- A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. Michele, D.E., Albayya, F.P., Metzger, J.M. J. Clin. Invest. (1999)
- A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Johnston, J.J., Kelley, R.I., Crawford, T.O., Morton, D.H., Agarwala, R., Koch, T., Schäffer, A.A., Francomano, C.A., Biesecker, L.G. Am. J. Hum. Genet. (2000)
- Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Pelin, K., Hilpelä, P., Donner, K., Sewry, C., Akkari, P.A., Wilton, S.D., Wattanasirichaigoon, D., Bang, M.L., Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J.A., Muntoni, F., Dubowitz, V., Beggs, A.H., Laing, N.G., Labeit, S., de la Chapelle, A., Wallgren-Pettersson, C. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Slow myosin heavy chain isozyme in nemaline myopathy. Biral, D., Damiani, E., Margreth, A., Scarpini, E., Scarlato, G. Neurology (1985)
- Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. Buxmann, H., Schlösser, R., Schlote, W., Sewell, A., Nowak, K.J., Laing, N.G., Loewenich, V. Neuropediatrics. (2001)
- MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise. Jehenson, P., Leroy-Willig, A., de Kerviler, E., Duboc, D., Syrota, A. AJR. American journal of roentgenology. (1993)
- Anaesthetic implications of nemaline rod myopathy. Cunliffe, M., Burrows, F.A. Canadian Anaesthetists' Society journal. (1985)
- Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. Pelin, K., Ridanpää, M., Donner, K., Wilton, S., Krishnarajah, J., Laing, N., Kolmerer, B., Millevoi, S., Labeit, S., de la Chapelle, A., Wallgren-Petterson, C. Eur. J. Hum. Genet. (1997)
- Gene-related protein surplus myopathies. Goebel, H.H., Warlo, I. Mol. Genet. Metab. (2000)
- A new phenotype of autosomal dominant nemaline myopathy. Gommans, I.M., van Engelen, B.G., ter Laak, H.J., Brunner, H.G., Kremer, H., Lammens, M., Vogels, O.J. Neuromuscul. Disord. (2002)
- Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. Pourmand, R., Azzarelli, B. Muscle Nerve (1994)
- Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Ilkovski, B., Nowak, K.J., Domazetovska, A., Maxwell, A.L., Clement, S., Davies, K.E., Laing, N.G., North, K.N., Cooper, S.T. Hum. Mol. Genet. (2004)
- Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Donner, K., Ollikainen, M., Ridanpää, M., Christen, H.J., Goebel, H.H., de Visser, M., Pelin, K., Wallgren-Pettersson, C. Neuromuscul. Disord. (2002)
- Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Sarnat, H.B. Neurology (1992)
- Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Schröder, R., Reimann, J., Salmikangas, P., Clemen, C.S., Hayashi, Y.K., Nonaka, I., Arahata, K., Carpén, O. Neuromuscul. Disord. (2003)
- Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Davis, M.R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sánchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., Müller, C.R., Laing, N.G. Neuromuscul. Disord. (2003)
- Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Wallgren-Pettersson, C., Jasani, B., Newman, G.R., Morris, G.E., Jones, S., Singhrao, S., Clarke, A., Virtanen, I., Holmberg, C., Rapola, J. Neuromuscul. Disord. (1995)