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Wollmann, Robert
One or more keywords matched the following items that are connected to Wollmann, Robert
Item TypeName
Concept Myasthenic Syndromes, Congenital
Academic Article Presynaptic congenital myasthenic syndrome due to quantal release deficiency.
Academic Article Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.
Academic Article Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.
Academic Article Focal caspase activation underlies the endplate myopathy in slow-channel syndrome.
Academic Article Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
Academic Article Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.
Academic Article Variable phenotypes associated with mutations in DOK7.
Academic Article Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model.
Academic Article Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
Academic Article Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Academic Article Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
Academic Article Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
Academic Article Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.
Academic Article LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Academic Article Synaptic basal lamina-associated congenital myasthenic syndromes.
Academic Article Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Academic Article Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.
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  • Myasthenic Syndromes Congenital