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Wollmann, Robert

One or more keywords matched the following items that are connected to Wollmann, Robert

Item Type	Name
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Academic Article	A transgenic mouse model of the slow-channel syndrome.
Academic Article	Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.
Academic Article	Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly.
Academic Article	A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.
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	Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice.
Academic Article	Variable phenotypes associated with mutations in DOK7.
Academic Article	Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
Academic Article	Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
Academic Article	Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Academic Article	A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
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	LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Academic Article	Clinical and genetic studies of fatal familial insomnia.
Academic Article	Theiler's murine encephalomyelitis virus neutralization escape mutants have a change in disease phenotype.
Academic Article	Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.
Academic Article	Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents.
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	Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.

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Mutation
detection