MeSH Review:
Muscular Dystrophy, Facioscapulohumeral
- Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Wijmenga, C., Frants, R.R., Brouwer, O.F., Moerer, P., Weber, J.L., Padberg, G.W. Lancet (1990)
- Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Lemmers, R.J., van der Maarel, S.M., van Deutekom, J.C., van der Wielen, M.J., Deidda, G., Dauwerse, H.G., Hewitt, J., Hofker, M., Bakker, E., Padberg, G.W., Frants, R.R. Hum. Mol. Genet. (1998)
- Diagnosis of dystrophinopathy by skin biopsy. Niiyama, T., Higuchi, I., Sakoda, S., Matsumura, T., Fukunaga, H., Osame, M. Muscle Nerve (2002)
- Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques. Nakagawa, M., Nakahara, K., Yoshidome, H., Suehara, M., Higuchi, I., Fujiyama, J., Nakamura, A., Kubota, R., Takenaga, S., Arahata, K. Neuroepidemiology. (1991)
- Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5. Wijmenga, C., Frants, R.R., Brouwer, O.F., van der Klift, H.M., Meera Khan, P., Padberg, G.W. J. Neurol. Sci. (1990)
- When enough is enough: genetic diseases associated with transcriptional derepression. Gabellini, D., Green, M.R., Tupler, R. Curr. Opin. Genet. Dev. (2004)
- Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Miura, K., Kumagai, T., Matsumoto, A., Iriyama, E., Watanabe, K., Goto, K., Arahata, K. Neuropediatrics. (1998)
- Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. Weiffenbach, B., Bagley, R., Falls, K., Hyser, C., Storvick, D., Jacobsen, S.J., Schultz, P., Mendell, J., Willems van Dijk, K., Milner, E.C. Am. J. Hum. Genet. (1992)
- Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Jiang, G., Yang, F., van Overveld, P.G., Vedanarayanan, V., van der Maarel, S., Ehrlich, M. Hum. Mol. Genet. (2003)
- Actinin-associated LIM protein-deficient mice maintain normal development and structure of skeletal muscle. Jo, K., Rutten, B., Bunn, R.C., Bredt, D.S. Mol. Cell. Biol. (2001)
- Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Isozumi, K., DeLong, R., Kaplan, J., Deng, H.X., Iqbal, Z., Hung, W.Y., Wilhelmsen, K.C., Hentati, A., Pericak-Vance, M.A., Siddique, T. Hum. Mol. Genet. (1996)
- Purification and characterization of an alpha-actinin-binding PDZ-LIM protein that is up-regulated during muscle differentiation. Pomiès, P., Macalma, T., Beckerle, M.C. J. Biol. Chem. (1999)
- Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Kissel, J.T., McDermott, M.P., Natarajan, R., Mendell, J.R., Pandya, S., King, W.M., Griggs, R.C., Tawil, R. Neurology (1998)
- A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Tawil, R., McDermott, M.P., Pandya, S., King, W., Kissel, J., Mendell, J.R., Griggs, R.C. Neurology (1997)
- Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy. Nitahara, K., Sakuragi, T., Matsuyama, M., Dan, K. British journal of anaesthesia. (1999)
- On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Padberg, G.W., Brouwer, O.F., de Keizer, R.J., Dijkman, G., Wijmenga, C., Grote, J.J., Frants, R.R. Muscle Nerve (1995)
- Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Wijmenga, C., Sandkuijl, L.A., Moerer, P., van der Boorn, N., Bodrug, S.E., Ray, P.N., Brouwer, O.F., Murray, J.C., van Ommen, G.J., Padberg, G.W. Am. J. Hum. Genet. (1992)
- Hearing loss in facioscapulohumeral muscular dystrophy. Brouwer, O.F., Padberg, G.W., Ruys, C.J., Brand, R., de Laat, J.A., Grote, J.J. Neurology (1991)
- Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. van Geel, M., Dickson, M.C., Beck, A.F., Bolland, D.J., Frants, R.R., van der Maarel, S.M., de Jong, P.J., Hewitt, J.E. Genomics (2002)
- Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Wijmenga, C., Padberg, G.W., Moerer, P., Wiegant, J., Liem, L., Brouwer, O.F., Milner, E.C., Weber, J.L., van Ommen, G.B., Sandkuyl, L.A. Genomics (1991)
- YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy (FSHD) gene. Weiffenbach, B., Dubois, J., Manning, S., Ma, N.S., Schutte, B.C., Winokur, S.T., Altherr, M.R., Jacobsen, S.J., Stanton, V.P., Yokoyama, K. Genomics (1994)
- Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis. Köhler, J., Rupilius, B., Otto, M., Bathke, K., Koch, M.C. Hum. Genet. (1996)
- The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Wijmenga, C., Winokur, S.T., Padberg, G.W., Skraastad, M.I., Altherr, M.R., Wasmuth, J.J., Murray, J.C., Hofker, M.H., Frants, R.R. Hum. Genet. (1993)
- Normal calcium homeostasis in dystrophin-expressing facioscapulohumeral muscular dystrophy myotubes. Vandebrouck, C., Imbert, N., Constantin, B., Duport, G., Raymond, G., Cognard, C. Neuromuscul. Disord. (2002)
- An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy. Saito, A., Higuchi, I., Nakagawa, M., Saito, M., Uchida, Y., Inose, M., Kasai, T., Niiyama, T., Fukunaga, H., Arimura, K., Osame, M. Muscle Nerve (2000)
- Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). Fisher, J., Upadhyaya, M. Neuromuscul. Disord. (1997)
- Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Gabellini, D., D'Antona, G., Moggio, M., Prelle, A., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M.A., Bottinelli, R., Green, M.R., Tupler, R. Nature (2006)
- Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes. Bouju, S., Piétu, G., Le Cunff, M., Cros, N., Malzac, P., Pellissier, J.F., Pons, F., Léger, J.J., Auffray, C., Dechesne, C.A. Neuromuscul. Disord. (1999)
- Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Goto, K., Nishino, I., Hayashi, Y.K. Neuromuscul. Disord. (2006)
- Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Winokur, S.T., Barrett, K., Martin, J.H., Forrester, J.R., Simon, M., Tawil, R., Chung, S.A., Masny, P.S., Figlewicz, D.A. Neuromuscul. Disord. (2003)
- Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD). Upadhyaya, M., MacDonald, M., Ravine, D. Prenat. Diagn. (1999)