Search Results - "Boennemann, C"

RYR1 mutations are a common cause of congenital myopathies with central nuclei by Wilmshurst, J.M., Lillis, S., Zhou, H., Pillay, K., Henderson, H., Kress, W., Müller, C.R., Ndondo, A., Cloke, V., Cullup, T., Bertini, E., Boennemann, C., Straub, V., Quinlivan, R., Dowling, J.J., Al- Sarraj, S., Treves, S., Abbs, S., Manzur, A.Y., Sewry, C.A., Muntoni, F., Jungbluth, H.

“…Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated…”
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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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Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity by Pierson, T M, Zimmerman, R A, Tennekoon, G I, Bönnemann, C G

“…A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including…”
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G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene by Wilmshurst, J, Lillis, S, Zhou, H, Kress, W, Solomon, R, Ndondo, A, Greenberg, J, Sinclair-Smith, C.C, Bertini, E, Boennemann, C, Straub, V, Quinlivan, R, Sewry, C.A, Wraige, E, Abbs, S, Muntoni, F, Jungbluth, H

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C.I.2 Congenital myopathies: Blurring the boundaries, sharpening the focus by Boennemann, C G

“…Abstract Congenital myopathies are essentially defined as clinico-pathological entities by characteristic histopathological and ultrastructural findings on the…”
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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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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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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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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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β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex by Bönnemann, Carsten G, Yoshida, Mikiharu, Mizuno, Yuji, McNally, Elizabeth M, Duggan, David J, Modi, Raju, Noguchi, Satoru, Angelini, Corrado, Kunkel, Louis M, Hoffman, Eric P, Gussoni, Emanuela, Ozawa, Eijiro

“…The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive muscular…”
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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy by Noguchi, Satoru, McNally, Elizabeth M., Ben Othmane, Kamel, Hagiwara, Yasuko, Mizuno, Yuji, Yoshida, Mikiharu, Yamamoto, Hideko, Bönnemann, Carsten G., Gussoni, Emanuela, Denton, Peter H., Kyriakides, Theodoros, Middleton, Lefkos, Hentati, Faycal, Ben Hamida, Mongi, Nanoka, Ikuya, Vance, Jeffery M., Kunkel, Louis M., Ozawa, Eijiro

“…Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with…”
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Diagnostic approach to the congenital muscular dystrophies by Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

“…Abstract Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital…”
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C.O.5 Ventricular noncompaction with arthrogryposis due to TTN compound heterozygosity leading to loss of functional TTN kinase domain by Chauveau, C, Bönnemann, C, Alexandrovich, A, Kho, A.L, Julien, C, Foley, R, Vihola, A, Udd, B, Samuels, M.E, Gautel, M, Ferreiro, A

“…Abstract Arthrogryposis is a relatively common disorder characterized by multiple joint contractures with considerable clinical and genetical heterogeneity…”
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Muscle MRI in FHL1-linked reducing body myopathy by Astrea, G, Schessl, J, Clement, E, Tosetti, M, Mercuri, E, Rutherford, M, Cioni, G, Bönnemann, C.G, Muntoni, F, Battini, R

“…Abstract Reducing body myopathy is a rare progressive myopathy identified by characteristic pathological findings and secondary to dominantly acting mutations…”
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Caveolin-3 in Muscular Dystrophy by McNally, Elizabeth M., de Sá Moreira, Eloisa, Duggan, David J., Bönnemann, Carsten G., Lisanti, Michael P., Lidov, Hart G.W., Vainzof, Mariz, Rita Passos-Bueno, M., Hoffman, Eric P., Zatz, Mayana, Kunkel, Louis M.

“…The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the membrane and the extracellular matrix of striated muscle. Genetic…”
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Dokumentation der ambulanten Morbus-Paget-Behandlung am Beispiel der Region Westfalen-Lippe: Deskriptive Analyse der Abrechnungsdaten gesetzlich Krankenversicherter für das Jahr 2005 by Altenhöner, T., Dorendorf, E., Razum, O., Hertrich, M., Bonnemann, C.

“…Zusammenfassung Ziel Für die Gesundheitsberichterstattung werden in Deutschland u. a. Daten der stationären Krankenhausversorgung als Informationsquelle…”
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Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture by Chan, Yiu-mo, Bönnemann, Carsten G., Hart G. W. Lidov, Kunkel, Louis M.

“…The sarcoglycans are a complex of four transmembrane proteins (α, β, γ, and δ) which are primarily expressed in skeletal muscle and are closely associated with…”
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Identification of FLRT1, FLRT2, and FLRT3: A Novel Family of Transmembrane Leucine-Rich Repeat Proteins by Lacy, Susan E., Bönnemann, Carsten G., Buzney, Elizabeth A., Kunkel, Louis M.

“…FLRT1, FLRT2, and FLRT3 comprise a novel gene family isolated in a screen for extracellular matrix proteins expressed in muscle. The three genes encode…”
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P2.5 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials by Foley, A.R, Quijano-Roy, S, Collins, J, Straub, V, Deconinck, N, Mercuri, E, D’Amico, A, Bertini, E, North, K, Ryan, M, Rummey, C, Meier, T, Cole, T, Muntoni, F, Bönnemann, C

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A Mutation in the Alpha 3 Chain of type IX Collagen Causes Autosomal Dominant Multiple Epiphyseal Dysplasia with Mild Myopathy by Bonnemann, Carsten G., Cox, Gerald F., Shapiro, Frederic, Wu, Jiann-Jiu, Feener, Chris A., Thompson, Teryl G., Anthony, Douglas C., Eyre, David R., Darras, Basil T., Kunkel, Louis M.

“…Multiple epiphyseal dysplasia (MED) is a degenerative cartilage condition shown in some cases to be caused by mutations in genes encoding cartilage oligomeric…”
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