Coenzyme Q10 deficiency and isolated myopathy
Horvath, R, Schneiderat, P, Schoser, B G H, Gempel, K, Neuen-Jacob, E, Plöger, H, Müller-Höcker, J, Pongratz, D E, Naini, A, DiMauro, S, Lochmüller, H
Published in Neurology (24.01.2006)
Published in Neurology (24.01.2006)
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Journal Article
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
Erol, I, Alehan, F, Horvath, R, Schneiderat, P, Talim, B
Published in Neuromuscular disorders : NMD (01.04.2009)
Published in Neuromuscular disorders : NMD (01.04.2009)
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Journal Article
Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration
Schessl, J., Schuberth, M., Reilich, P., Schneiderat, P., Strigl-Pill, N., Walter, M. C., Schlotter-Weigel, B., Schoser, B.
Published in Journal of neurology (01.05.2011)
Published in Journal of neurology (01.05.2011)
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Journal Article
T.P.21 Exon skipping for dysferlinopathies
Aartsma-Rus, A, Verwey, N, Schneiderat, P, van der Maarel, S.M, van Ommen, G.J.B, Houweling-Gazzoli, I
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase ( ETFDH ) gene mutations
Topaloglu, H, Gempel, K, Talim, B, Schneiderat, P, Schoser, B, Volkmar, H, Kale, G, Tokatli, A, Quinzii, C, Hirano, M, Naini, A, Di Mauro, S, Prokisch, H, Lochmüller, H.H, Horvath, R
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Journal Article
M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase ( ETFDH ) gene cause myopathic form of coenzyme Q10 deficiency
Topaloglu, H, Gempel, K, Talim, B, Schneiderat, P, Schoser, B, Volkmar, H, Kale, G, Tokatli, A, Quinzii, C, Hirano, M, Naini, A, Di Mauro, S, Prokisch, H, Lochmüller, H, Horvath, R
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Journal Article
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne-Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Pegoraro, Elena, Renieri, Alessandra, Zatloukal, Kurt, Filocamo, Mirella, Lochmüller, Hanns
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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Journal Article
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
Büchner, B., Gallenmüller, C., Lautenschläger, R., Kuhn, K., Wittig, I., Schöls, L., Rapaport, D., Seelow, D., Freisinger, P., Prokisch, H., Sperl, W., Wenz, T., Behl, C., Deschauer, M., Kornblum, C., Schneiderat, P., Abicht, A., Schuelke, M., Meitinger, T., Klopstock, T.
Published in Medizinische Genetik (12.09.2012)
Published in Medizinische Genetik (12.09.2012)
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Journal Article
Functional analysis of apoptosis induction in acute myeloid leukaemia‐relevance of karyotype and clinical treatment response
Braess, Jan, Schneiderat, Peter, Schoch, Claudia, Fiegl, Michael, Lorenz, Isolde, Hiddemann, Wolfgang
Published in British journal of haematology (01.08.2004)
Published in British journal of haematology (01.08.2004)
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Journal Article
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
Büchner, B., Gallenmüller, C., Lautenschläger, R., Kuhn, K., Wittig, I., Schöls, L., Rapaport, D., Seelow, D., Freisinger, P., Prokisch, H., Sperl, W., Wenz, T., Behl, C., Deschauer, M., Kornblum, C., Schneiderat, P., Abicht, A., Schuelke, M., Meitinger, T., Klopstock, T.
Published in Medizinische Genetik (01.09.2012)
Published in Medizinische Genetik (01.09.2012)
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Journal Article
Rituximab als Therapie-Alternative beim Jo-1-Syndrom
Schneiderat, P, Reilich, P, Krause, S, Strigl-Pill, N, Schoser, B.G.H, Walter, M.C
Published in Aktuelle Neurologie (02.09.2008)
Published in Aktuelle Neurologie (02.09.2008)
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Conference Proceeding
Erkrankungsmarker bei der Charcot-Marie-Tooth Erkrankung 1A
Fledrich, R, Schnizer, T, Schlotter-Weigel, B, Schneiderat, P, Weiss, BG, Meyer zu Hörste, G, Stassart, RM, Brinkmann, BG, Walter, MC, Rautenstrauss, B, Paulus, W, Rossner, MJ, Nave, KA, Sereda, M
Published in Aktuelle Neurologie (07.10.2009)
Published in Aktuelle Neurologie (07.10.2009)
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Conference Proceeding