نتائج البحث - David Beeson
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Congenital myasthenic syndromes: recent advances حسب David Beeson
منشور في 2016Revisão -
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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome حسب R Croxen, Claire Newland, David Beeson, Harry Oosterhuis, G Chauplannaz, Angela Vincent, John Newsom–Davis
منشور في 1997Artigo -
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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome حسب Judith Cossins, Weiwei Liu, Katsiaryna Belaya, Susan Maxwell, Michael Oldridge, Tracy Lester, S. Robb, David Beeson
منشور في 2012Artigo -
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Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. حسب Sietske A. Riemersma, Angela Vincent, David Beeson, Claire Newland, S Hawke, B Garabedian, B. Eymard, John Newsom–Davis
منشور في 1996Artigo -
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR حسب Katarzyna Marta Zoltowska, Richard Webster, Sarah Finlayson, Susan Maxwell, Judith Cossins, Juliane Müller, Hanns Lochmüller, David Beeson
منشور في 2013Artigo -
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Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia' حسب Clarke R. Slater, P R W Fawcett, Timothy J. Walls, Paul Lyons, Sarah Bailey, David Beeson, Carol Young, D. Gardner‐Medwin
منشور في 2006Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Receptor
Acetylcholine receptor
Neuroscience
Gene
Internal medicine
Neuromuscular junction
Genetics
Congenital myasthenic syndrome
Endocrinology
Myasthenia gravis
Neuromuscular transmission
Immunology
Mutation
Biochemistry
Cell biology
Molecular biology
Antibody
Chemistry
Agrin
Muscle weakness
Bioinformatics
Postsynaptic potential
Repetitive nerve stimulation
Weakness
Acetylcholine
Anatomy
Computational biology
Pediatrics