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Pediatric Guillain-Barré Syndrome: Is a low amplitude of nerve action potentials always a bad omen?

Müller-Felber, Wolfgang

European Journal of Paediatric Neurology, November 2017, Vol.21(6), pp.804-804 [Rivista Peer Reviewed]

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Kremer, Laura S ; Danhauser, Katharina ; Herebian, Diran ; Petkovic Ramadža, Danijela ; Piekutowska-Abramczuk, Dorota ; Seibt, Annette ; Müller-Felber, Wolfgang ; Haack, Tobias B ; Płoski, Rafał ; Lohmeier, Klaus ; Schneider, Dominik ; Klee, Dirk ; Rokicki, Dariusz ; Mayatepek, Ertan ; Strom, Tim M ; Meitinger, Thomas

The American Journal of Human Genetics, 06 October 2016, Vol.99(4), pp.894-902 [Rivista Peer Reviewed]

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Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Vill, Katharina ; Ille, Lena ; Schroeder, Sebastian A ; Blaschek, Astrid ; Müller-Felber, Wolfgang

European Journal of Paediatric Neurology, November 2015, Vol.19(6), pp.640-646 [Rivista Peer Reviewed]

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Early infantile sensory-motor neuropathy with late onset respiratory distress

Blaschek, Astrid ; Gläser, Dieter ; Kuhn, Marius ; Schroeder, Andreas Sebastian ; Wimmer, Cornelius ; Heimkes, Bernd ; Schön, Carola ; Müller-Felber, Wolfgang

Neuromuscular Disorders, March 2014, Vol.24(3), pp.269-271 [Rivista Peer Reviewed]

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The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Roberts, Mark ; Kishnani, Priya S ; van Der Ploeg, Ans T ; Müller-Felber, Wolfgang ; Merlini, Luciano ; Prasad, Suyash ; Case, Laura E

Molecular Genetics and Metabolism, December 2011, Vol.104(4), pp.574-582 [Rivista Peer Reviewed]

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Pompe disease: Design, methodology, and early findings from the Pompe Registry

Byrne, Barry J ; Kishnani, Priya S ; Case, Laura E ; Merlini, Luciano ; Müller-Felber, Wolfgang ; Prasad, Suyash ; Der Ploeg, Ans van

Molecular Genetics and Metabolism, 2011, Vol.103(1), pp.1-11 [Rivista Peer Reviewed]

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Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]

Byrne, Barry J ; Kishnani, Priya S ; Case, Laura E ; Merlini, Luciano ; Müller-Felber, Wolfgang ; Prasad, Suyash ; van Der Ploeg, Ans

Molecular Genetics and Metabolism, November 2011, Vol.104(3), pp.424-424 [Rivista Peer Reviewed]

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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Gallenmüller, Constanze ; Müller-Felber, Wolfgang ; Dusl, Marina ; Stucka, Rolf ; Guergueltcheva, Velina ; Blaschek, Astrid ; Von Der Hagen, Maja ; Huebner, Angela ; Müller, Juliane S ; Lochmüller, Hanns ; Abicht, Angela

Neuromuscular Disorders, January 2014, Vol.24(1), pp.31-35 [Rivista Peer Reviewed]

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TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

Blaschek, Astrid ; V. Kries, Rüdiger ; Lohse, Peter ; Huss, Kristina ; Vill, Katharina ; Belohradsky, Bernd H ; Heinen, Florian ; Müller-Felber, Wolfgang ; Kümpfel, Tania

European Journal of Paediatric Neurology, January 2018, Vol.22(1), pp.72-81 [Rivista Peer Reviewed]

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50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

Walter, Maggie C ; Rossius, Martina ; Zitzelsberger, Manuela ; Vorgerd, Matthias ; Müller-Felber, Wolfgang ; Ertl-Wagner, Birgit ; Zhang, Yaxin ; Brinkmeier, Heinrich ; Senderek, Jan ; Schoser, Benedikt

Neuromuscular Disorders, July 2015, Vol.25(7), pp.577-584 [Rivista Peer Reviewed]

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da questo autore/creatore:

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