Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Khelifi, Mouna Messaoud, Ishmukhametova, Aliya, Van Kien, Philippe Khau, Thorel, Delphine, Méchin, Déborah, Perelman, Serge, Pouget, Jean, Claustres, Mireille, Tuffery-Giraud, Sylvie
Published in Human mutation (01.04.2011)
Published in Human mutation (01.04.2011)
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SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia, Maurer, Elisabeth, Muller-Bolla, Michèle, Penzien, Johann, Zschocke, Johannes, Kapferer-Seebacher, Ines
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Transient neonatal myasthenia gravis revealing a myasthenia gravis and a systemic lupus erythematosus in the mother: case report and review of the literature
Saint-Faust, Marie, Perelman, Serge, Dupont, Didier, Velin, Patrick, Chatel, Marcel
Published in American journal of perinatology (01.02.2010)
Published in American journal of perinatology (01.02.2010)
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SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations
Latour, Philippe, Gonnaud, Pierre-Marie, Ollagnon, Elisabeth, Chan, Victor, Perelman, Serge, Stojkovic, Tanya, Stoll, Claude, Vial, Christophe, Ziegler, François, Vandenberghe, Antoon, Maire, Irène
Published in Journal of the peripheral nervous system (01.06.2006)
Published in Journal of the peripheral nervous system (01.06.2006)
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The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre
Tuffery-Giraud, Sylvie, Saquet, Céline, Chambert, Sylvie, Echenne, Bernard, Marie Cuisset, Jean, Rivier, François, Cossée, Mireille, Philippe, Christophe, Monnier, Nicole, Bieth, Eric, Recan, Dominique, Antoinette Voelckel, Marie, Perelman, Serge, Lambert, Jean-Claude, Malcolm, Sue, Claustres, Mireille
Published in Neuromuscular disorders : NMD (01.10.2004)
Published in Neuromuscular disorders : NMD (01.10.2004)
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Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
Karmous-Benailly, Houda, Giuliano, Fabienne, Massol, Christophe, Bloch, Catherine, De Ricaud, Dominique, Lambert, Jean-Claude, Perelman, Serge
Published in European journal of medical genetics (01.09.2006)
Published in European journal of medical genetics (01.09.2006)
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RESEARCH REPORT: SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations
Latour, Philippe, Gonnaud, Pierre-Marie, Ollagnon, Elisabeth, Chan, Victor, Perelman, Serge, Stojkovic, Tanya, Stoll, Claude, Vial, Christophe, Ziegler, Francois, Vandenberghe, Antoon, Maire, Irene
Published in Journal of the peripheral nervous system (01.06.2006)
Published in Journal of the peripheral nervous system (01.06.2006)
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