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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Journal Article
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
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
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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Journal Article
Assessing the fidelity of Landsat-based fAPAR models in two diverse sugarcane growing regions
Muller, S.J., Sithole, P., Singels, A., Van Niekerk, A.
Published in Computers and electronics in agriculture (01.03.2020)
Published in Computers and electronics in agriculture (01.03.2020)
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Journal Article
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene
Müller, J S, Petrova, S, Kiefer, R, Stucka, R, König, C, Baumeister, S K, Huebner, A, Lochmüller, H, Abicht, A
Published in Neuropediatrics (01.06.2004)
Published in Neuropediatrics (01.06.2004)
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Journal Article
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Published in The EMBO journal (01.12.2020)
Published in The EMBO journal (01.12.2020)
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Journal Article
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
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
Müller, Juliane S., Herczegfalvi, Agnes, Vilchez, Juan J., Colomer, Jaume, Bachinski, Linda L., Mihaylova, Violeta, Santos, Manuela, Schara, Ulrike, Deschauer, Marcus, Shevell, Michael, Poulin, Chantal, Dias, Ana, Soudo, Ana, Hietala, Marja, Äärimaa, Tuula, Krahe, Ralf, Karcagi, Veronika, Huebner, Angela, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Published in Brain (London, England : 1878) (01.06.2007)
Published in Brain (London, England : 1878) (01.06.2007)
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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
Elastic secondary flows in sharp 90 degree micro-bends: A comparison of PEO and DNA solutions
Gulati, S., Dutcher, C. S., Liepmann, D., Muller, S. J.
Published in Journal of rheology (New York : 1978) (01.03.2010)
Published in Journal of rheology (New York : 1978) (01.03.2010)
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Journal Article
Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis
von der Hagen, M., Schallner, J., Kaindl, A.M., Koehler, K., Mitzscherling, P., Abicht, A., Grieben, U., Korinthenberg, R., Kress, W., von Moers, A., Müller, J.S., Schara, U., Vorgerd, M., Walter, M.C., Müller-Reible, C., Hübner, C., Lochmüller, H., Huebner, A.
Published in Neuromuscular disorders : NMD (01.01.2006)
Published in Neuromuscular disorders : NMD (01.01.2006)
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Journal Article
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
Walter, M C, Petersen, J A, Stucka, R, Fischer, D, Schröder, R, Vorgerd, M, Schroers, A, Schreiber, H, Hanemann, C O, Knirsch, U, Rosenbohm, A, Huebner, A, Barisic, N, Horvath, R, Komoly, S, Reilich, P, Müller-Felber, W, Pongratz, D, Müller, J S, Auerswald, E A, Lochmüller, H
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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Journal Article
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants
Barisic, N., Müller, J.S., Paucic-Kirincic, E., Gazdik, M., Lah-Tomulic, K., Pertl, A., Sertic, J., Zurak, N., Lochmüller, H., Abicht, A.
Published in European journal of paediatric neurology (2005)
Published in European journal of paediatric neurology (2005)
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Journal Article
Illness episodes in a cohort of preterm infants in their first year of life
Muller, SJ, Zar, HJ, Tooke, L
Published in SAJCH : the South African journal of child health (30.04.2021)
Published in SAJCH : the South African journal of child health (30.04.2021)
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