Peter Pytel to Myasthenic Syndromes, Congenital
This is a "connection" page, showing publications Peter Pytel has written about Myasthenic Syndromes, Congenital.
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Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021 08; 64(2):219-224.
Score: 0.198
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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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A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci. 2018 02; 1413(1):119-125.
Score: 0.156
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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug; 173(8):2240-2245.
Score: 0.149
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Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015 Aug; 270:88-94.
Score: 0.125
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Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome. Hum Mol Genet. 2014 Jan 01; 23(1):69-77.
Score: 0.115