Search Results - "BÖNNEMANN, C"

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern by Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

“…Protein O -glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the…”
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Motor neuron pathology in experimental autoimmune encephalomyelitis: studies in THY1-YFP transgenic mice by Bannerman, P. G., Hahn, A., Ramirez, S., Morley, M., Bönnemann, C., Yu, S., Zhang, G.-X., Rostami, A., Pleasure, D.

“…Using adult male C57BL/6 mice that express a yellow fluorescent protein transgene in their motor neurons, we induced experimental autoimmune encephalomyelitis…”
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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum by Smith, C., Parboosingh, J.S., Boycott, K.M., Bönnemann, C.G., Mah, J.K., Lamont, R.E., Micheil Innes, A., Bernier, F.P.

“…Mutations in GLE1 cause two recessive subtypes of arthrogryposis multiplex congenita (AMC), a condition characterized by joint contractures at birth, and all…”
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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement by Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

“…MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype–phenotype spectrum remains to be explored,…”
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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation by Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.

“…We here report on a 20‐year‐old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST‐1 deficiency, accompanied by…”
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Col6A2 null mice are a new mouse model of collagen-VI related dystrophies and relevant to the human disease by Mohassel, P, Rooney, J, Zou, Y, Bönnemann, C

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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia by Donkervoort, S., Dastgir, J., Hu, Y., Zein, W.M., Marks, H., Blackstone, C., Bönnemann, C.G.

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Late-onset mild myopathy with protein aggregates in two transgenic mouse models of FHL1 by Rooney, J, Zou, Y, Cowling, B, Mitchell, C, Bönnemann, C

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Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test? by Witherspoon, J.W., Vasavada, R., Logaraj, R.H., Waite, M., Collins, J., Shieh, C., Meilleur, K., Bönnemann, C., Jain, M.

“…Functional tests such as Motor Function Measure-32 (MFM-32), supine to stand, ascend/descend stairs permit the assessment of task-specific motor function in…”
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The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23-42 by Donkervoort, S., Bönnemann, C. G., Loeys, B., Jungbluth, H., Voermans, N. C.

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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype? by Korinthenberg, R, Schorling, D, Rost, S, Krueger, M, Beytia, M, Mueller, C, Bönnemann, C, Kirschner, J

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Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1 by Schessl, J, Columbus, A, Hu, Y, Zou, Y, Voit, T, Goebel, H H, Bönnemann, C G

“…Reducing body myopathy (RBM) is a rare progressive disorder of muscle characterized by intracytoplasmic inclusions, which stain strongly with menadione-NBT…”
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Quantitative MRI and MRS detect alterations in muscle quality in both congenital muscular dystrophy and Duchenne muscular dystrophy by Willcocks, R, Triplett, W, Lott, D, Forbes, S, Dastgir, J, Bönnemann, C, Vandenborne, K, Walter, G

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Molecular basis of stiff patient syndrome caused by mutations in ACTA1 and TPM3 by Papadaki, M, Marston, S, Memo, M, Messer, A, Donkervoort, S, Bönnemann, C, Nowak, K, Ong, R, McNamara, E

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Detection of common and private mutations in the COL6A1 gene of patients with bethlem myopathy by LUCIOLI, S, GIUSTI, B, BÖNNEMANN, C, IANNACCONE, S. T, MERLINI, L, BUSHBY, K, MUNTONI, F, BERTINI, E, CHU, M.-L, PEPE, G, MERCURI, E, CAMACHO VANEGAS, O, LUCARINI, L, PIETRONI, V, URTIZBEREA, A, BEN YAOU, R, DE VISSER, M, VAN DER KOOI, A. J

“…Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with…”
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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies by Dabaj, I., Ben Yaou, R., Bönnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber, K., Lorenzo, M., Ishiyama, A., Sejersen, T., Gurgel-Giannetti, J., Monges, S., Bonne, G., Quijano-roy, S.

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173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands by Bönnemann, C.G, Rutkowski, A, Mercuri, E, Muntoni, F

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Mutation-specific effects on thin filament length in thin filament myopathy by Winter, Josine M. de, Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., Engelen, Baziel G. van, Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.

“…Objective Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding…”
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance by Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G

“…Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two…”
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G.P.33 by Abath Neto, O, Martins, C.A, Reed, U.C, Biancalana, V, Bönnemann, C, Laporte, J, Zanoteli, E

“…In this work we present results of the molecular analyses of 22 families diagnosed with myotubular or centronuclear myopathies (MTM/CNM) on clinical and…”
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