| 2012 | Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H.: A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.. In: J Neurol., 2012, 474-481 |
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| 2012 | Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H.: Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.. In: J Neurol. , 2012, 838-850 |
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| 2011 | Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. . In: Am J Hum Genet., 2011, 162-172 |
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| 2010 | Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B.: DOK7 mutations presenting as a proximal myopathy in French Canadians. . In: Neuromuscul Disord., 2010, 453-457 |
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| 2010 | Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H.: Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.. In: J Neurol Neurosurg Psychiatry., 2010, 973-977 |
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| 2009 | Violeta Mihaylova, Mustafa A.Salih, Maowia M.Mukhtar, Hala A.Abuzeid, SM El-Sadig, Maja von der Hagen, Angela Huebner, Gudrun Nürnberg, Angela Abicht, Juliane S.Müller, Hanns Lochmüller, Velina Guergueltcheva: Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.. In: Neurology, 2009, 1926-1928 |
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