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The spectrum of mutations that...
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The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
Bibliografiska uppgifter
Huvudupphovsmän:
Beeson, D
,
Cossins, J
,
Maxwell, S
,
Liu, W
,
Oldridge, M
,
Finlayson, S
,
Robb, S
,
Palace, J
Materialtyp:
Conference item
Publicerad:
2012
Beståndsuppgifter
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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
av: Cossins, J, et al.
Publicerad: (2012)
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
av: Beeson, D, et al.
Publicerad: (2006)
Clinical features of the DOK7 neuromuscular junction synaptopathy.
av: Palace, J, et al.
Publicerad: (2007)
Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
av: Cossins, J, et al.
Publicerad: (2010)
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
av: Lashley, D, et al.
Publicerad: (2010)