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Wollmann, Robert

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

Item Type	Name
Concept	Acquired Immunodeficiency Syndrome
Concept	Syndrome
Concept	Postpoliomyelitis Syndrome
Concept	Myasthenic Syndromes, Congenital
Academic Article	A transgenic mouse model of the slow-channel syndrome.
Academic Article	Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.
Academic Article	Presynaptic congenital myasthenic syndrome due to quantal release deficiency.
Academic Article	Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome.
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	A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child.
Academic Article	Function and ultrastructure of the neuromuscular junction in post-polio syndrome.
Academic Article	LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Academic Article	Post-poliomyelitis syndrome: evidence of ongoing denervation in symptomatic and asymptomatic patients.
Academic Article	Disseminated histoplasmosis in an infant with acquired immunodeficiency syndrome.
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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Syndrome