Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes
Mihaylova, V, Salih, M A M, Mukhtar, M M, Abuzeid, H A, El-Sadig, S M, von der Hagen, M, Huebner, A, Nürnberg, G, Abicht, A, Müller, J S, Lochmüller, H, Guergueltcheva, V
Published in Neurology (01.12.2009)
Published in Neurology (01.12.2009)
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Journal Article
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
Mihaylova, V, Scola, R H, Gervini, B, Lorenzoni, P J, Kay, C K, Werneck, L C, Stucka, R, Guergueltcheva, V, von der Hagen, M, Huebner, A, Abicht, A, Müller, J S, Lochmüller, H
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
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Journal Article
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
Richard, P, Gaudon, K, Haddad, H, Ammar, A Ben, Genin, E, Bauché, S, Paturneau-Jouas, M, Müller, J S, Lochmüller, H, Grid, D, Hamri, A, Nouioua, S, Tazir, M, Mayer, M, Desnuelle, C, Barois, A, Chabrol, B, Pouget, J, Koenig, J, Gouider-Khouja, N, Hentati, F, Eymard, B, Hantaï, D
Published in Neurology (09.12.2008)
Published in Neurology (09.12.2008)
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Journal Article
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
Müller, J S, Baumeister, S K, Rasic, V M, Krause, S, Todorovic, S, Kugler, K, Müller-Felber, W, Abicht, A, Lochmüller, H
Published in Neurology (10.10.2006)
Published in Neurology (10.10.2006)
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Journal Article
Unusual features in a boy with the rapsyn N88K mutation
Skeie, G O, Aurlien, H, Müller, J S, Lochmüller, H, Norgârd, G, Bindoff, L A
Published in Neurology (26.12.2006)
Published in Neurology (26.12.2006)
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Journal Article
Electrophysiological correlates of looking at paintings and its association with art expertise
Pang, C.Y., Nadal, M., Müller-Paul, J.S., Rosenberg, R., Klein, C.
Published in Biological psychology (01.04.2013)
Published in Biological psychology (01.04.2013)
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Journal Article
Molecular characterization of congenital myasthenic syndromes in Spain
Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.12.2017)
Published in Neuromuscular disorders : NMD (01.12.2017)
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Journal Article
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Natera-de Benito, D., Nascimento, A., Abicht, A., Ortez, C., Jou, C., Müller, J. S., Evangelista, T., Töpf, A., Thompson, R., Jimenez-Mallebrera, C., Colomer, J., Lochmüller, H.
Published in Journal of neurology (01.03.2016)
Published in Journal of neurology (01.03.2016)
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Journal Article
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
Schara, U, Barisic, N, Deschauer, M, Lindberg, C, Straub, V, Strigl-Pill, N, Wendt, M, Abicht, A, Müller, J.S, Lochmüller, H
Published in Neuromuscular disorders : NMD (01.12.2009)
Published in Neuromuscular disorders : NMD (01.12.2009)
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Journal Article
Late onset in dysferlinopathy widens the clinical spectrum
Klinge, L, Dean, A.F, Kress, W, Dixon, P, Charlton, R, Müller, J.S, Anderson, L.V, Straub, V, Barresi, R, Lochmüller, H, Bushby, K
Published in Neuromuscular disorders : NMD (01.04.2008)
Published in Neuromuscular disorders : NMD (01.04.2008)
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Journal Article
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients
Müller, J S, Mildner, G, Müller-Felber, W, Schara, U, Krampfl, K, Petersen, B, Petrova, S, Stucka, R, Mortier, W, Bufler, J, Kurlemann, G, Huebner, A, Merlini, L, Lochmüller, H, Abicht, A
Published in Neurology (10.06.2003)
Published in Neurology (10.06.2003)
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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
Müller, J S, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S K, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Journal Article
Relativistic nonperturbative above-threshold phenomena in strong laser fields
Müller, C., Hatsagortsyan, K. Z., Ruf, M., Müller, S. J., Hetzheim, H. G., Kohler, M. C., Keitel, C. H.
Published in Laser physics (01.08.2009)
Published in Laser physics (01.08.2009)
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Journal Article
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome
Müller, J S, Stucka, R, Neudecker, S, Zierz, S, Schmidt, C, Huebner, A, Lochmüller, H, Abicht, A
Published in Neurology (09.08.2005)
Published in Neurology (09.08.2005)
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Journal Article
Receptivity of the turbulent precessing vortex core: synchronization experiments and global adjoint linear stability analysis
Müller, J S, Lückoff, F, Paredes, P, Theofilis, V, Oberleithner, K
Published in arXiv.org (28.01.2020)
Published in arXiv.org (28.01.2020)
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Journal Article
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
Colomer, J., Müller, J.S., Vernet, A., Nascimento, A., Pons, M., Gonzalez, V., Abicht, A., Lochmüller, H.
Published in Neuromuscular disorders : NMD (01.05.2006)
Published in Neuromuscular disorders : NMD (01.05.2006)
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Journal Article
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)
Soltanzadeh, P, Müller, J S, Ghorbani, A, Abicht, A, Lochmüller, H, Soltanzadeh, A
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2005)
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