Kết quả tìm kiếm - Constanze Gallenmüller
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1
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK Bằng Constanze Gallenmüller, Wolfgang Müller‐Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S. Müller, Hanns Lochmüller, Angela Abicht
Được phát hành 2013Artigo -
2
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy Bằng Thomas Klopstock, Günther Metz, Patrick Yu‐Wai‐Man, Boriana Büchner, Constanze Gallenmüller, Maura Bailie, Nwanyieze Nwali, P.G. Griffiths, Bettina von Livonius, Lukas Reznicek, Jacinthe Rouleau, Nicholas Coppard, Thomas Meier, Patrick F. Chinnery
Được phát hành 2013Carta -
3
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study Bằng Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias B. Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Dürr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Kœnig, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer
Được phát hành 2016Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Genetics
Medicine
Ataxia
Bioinformatics
Cerebellar ataxia
Clinical neurology
Congenital myasthenic syndrome
Endocrinology
Engineering
Exon
Gene
Geotechnical engineering
Idebenone
Internal medicine
Leber's hereditary optic neuropathy
Missense mutation
Mutation
Neuromuscular transmission
Neuroscience
Ophthalmology
Optic nerve
Optic neuropathy
Persistence (discontinuity)
Phenotype
Psychology