Rare Variant of GM2 Gangliosidosis due to Activator Protein Deficiency: A Case Report

Autor: T. Leis, G. Dekomien, Florian Brackmann, Ingeborg Krägeloh-Mann, W. Kustermann, G. Gusek-Schneider, Regina Trollmann

Publikováno v: Neuropediatrics. 46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08619d0b205d17d61fbcdbab8039f0b6
https://doi.org/10.1055/s-0035-1550688

[Inclusion body myositis, Paget's disease of the bone and frontotemporal dementia: early involvement of the heart and respiratory muscles]

Autor: M, Ponfick, A C, Ludolph, G, Dekomien, I, Uttner, J, Kassubek, H-J, Gdynia

Publikováno v: Fortschritte der Neurologie-Psychiatrie. 80(6)

Since valosin-containing protein mutations were reported as a cause of hereditary inclusion body myositis associated with Paget's disease of the bone and frontotemporal dementia, many new mutations have been described in the last decade. We report on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa7f404169fb2dc2f3f421234cd041f5
https://pubmed.ncbi.nlm.nih.gov/22644520

Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)

Autor: K Weigt-Usinger, G Dekomien, T. Lücke, Charlotte Thiels, Matthias Vorgerd, Christoph M. Heyer, C. Köhler

Publikováno v: Neuropediatrics. 41

Introduction: congenital muscular dystrophies (MDC) are hereditary myopathies characterized by congenital muscular hypotonia, delayed motor development and early onset of progressive muscle weakness. Dystrophic patterns are found in muscular biopsy.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03a6b10df9c10f9132f562b73d9b442d
https://doi.org/10.1055/s-0030-1265560

Contents Vol. 90, 2000

Autor: H. Hameister, R.H. Martin, Eric D. Green, K. Nayernia, C.M. Tsiapalis, S.I. Anderson, W.J. Schwaeble, Alan Archibald, A. Eggen, H. Hayes, S. Weigend, S. Kubalak, K. Hashimoto, T. Escudero, R. Tanuma, P.A. Robinson, M. Schmid, P. Burfeind, V. Fillon, M.A. Ferguson-Smith, K. Wimmers, M. van Bilsen, M.E. Delany, S. Ikegawa, J.P. Leek, J.L. Doyle, N.A. Jenkins, N. Serdukova, K. Kratochwil, F.J. Charchar, W. Lu, S. Bremer, M.F. Maurer, J. Smith, C. Szpirer, Udaya DeSilva, J. Uedelhoven, S. Sexson, K. Ladjali-Mohammedi, J. Szpirer, H.C. Ardley, A.S. Graphodatsky, S. Munné, L. Carim-Todd, J. Burnside, P.A. Doevendans, G. Liu, J. Grønlund, U. Holmskov, J-M. Buerstedde, D. Conklin, N.G. Copeland, M.R. Speicher, G.P. Di Meo, D.W. Burt, N.A.A. Balatsos, S. A’Hara, F. Deák, T.V. Karamisheva, D.J. Gilbert, D.K. Griffin, S.A. Rose, M. Sano, M. Runte, F. Pitel, P. Laurent, J. Hillel, L. Módis, Q. Shi, T.E. Whitmore, N.G.S. Tan, M. Morisson, C. Steinlein, J. Kaufman, F. Raymond, N. Courtis, P. Zaragoza, A. Schulz, J.A.M. Graves, N. Kleiter, I. Kiss, H. Sheng, T. Haaf, M. Tixier-Boichard, J.H. Calvo, R. Bronsaer, M. Schartl, C. Rodellar, M. Balázs, I. Artner, M. Hoehn, M. Hughes, G. Dekomien, P. van Vooren, Webb Miller, N.S. Zhdanova, M .A.M. Groenen, P.R. Lozano, T. Burke, S. Tascou, T. Liehr, C.M. Stover, M. Escarceller, J. Schleypen, J.-C. Courvalin, U. Claussen, M. Gautier, R. Osta, A. Mäki-Tanila, P. Perelman, T.M. Skinner, K. Krysan, N.M. Astakhova, A.F. Markham, A. Vignal, S. Marcos, D. Sable, H.H.Q. Heng, E. Minc, I. Nanda, P. Liénard, H. Marquardt, H.H. Cheng, R.P.M.A. Crooijmans, R. Kreutz, R. Fries, F. Yang, J. Cohen, P.A. Thomson, R. Zákány, S. Mizuno, M. Guttenbach, Y. Nakamura, M. Svartman, A. Robic, L. Iannuzzi, M. Rivière, T.A. Deisher, S. Muratoglu, M. Sandalinas, M. Hirai, B. Buendia, C. Dixkens, C.V. Beechey, N. Bumstead, L. Sumoy, J. Kusuda, B. Schreiner, R. Gödde, Y. Koshizuka, J.T. Epplen, N.B. Rubtsov, N.L. Lopez-Corrales, A. Law, X. Estivill, M. Samiotaki, W. Engel

Publikováno v: Cytogenetic and Genome Research. 90:343-345

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d6410331326367c6c8710a1e99789185
https://doi.org/10.1159/000056804

Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina

Autor: S, Avila De Salman, A L, Taratuto, G, Dekomien, R, Carrero-Valenzuela

Publikováno v: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 26(2)

Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::533d33e0664c6ce9e8643191d44b86fd
https://pubmed.ncbi.nlm.nih.gov/18421900