Robert Wollmann to Myasthenic Syndromes, Congenital
This is a "connection" page, showing publications Robert Wollmann has written about Myasthenic Syndromes, Congenital.
Connection Strength
3.571
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2014 Feb; 85(2):166-71.
Score: 0.445
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Synaptic basal lamina-associated congenital myasthenic syndromes. Ann N Y Acad Sci. 2012 Dec; 1275:36-48.
Score: 0.437
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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet. 2011 Nov; 80(5):444-51.
Score: 0.382
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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet. 2010 Jun 15; 19(12):2370-9.
Score: 0.364
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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009 Mar; 46(3):203-8.
Score: 0.337
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Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. Clin Genet. 2007 Jul; 72(1):63-5.
Score: 0.300
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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve. 2003 Sep; 28(3):293-301.
Score: 0.230
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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve. 2003 Feb; 27(2):180-7.
Score: 0.221
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Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology. 2001 Jul 24; 57(2):279-89.
Score: 0.199
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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 05; 6(3):434-440.
Score: 0.157
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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35.
Score: 0.102
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Variable phenotypes associated with mutations in DOK7. Muscle Nerve. 2008 Apr; 37(4):448-56.
Score: 0.079
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Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. J Clin Invest. 2007 Oct; 117(10):2903-12.
Score: 0.076
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Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model. Neurobiol Dis. 2006 Aug; 23(2):462-70.
Score: 0.070
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Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar; 55(3):347-52.
Score: 0.060
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Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2. Neurology. 2003 Dec 23; 61(12):1743-8.
Score: 0.059
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Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. J Neurosci. 2002 Aug 01; 22(15):6447-57.
Score: 0.053