Author/Creator: Ferns, Michael - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Ferns, Michael

1. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Issue 2 (12th June 2021)

Authors:: Maselli, Ricardo A.; Wei, David T.; Hodgson, Trent S.; Sampson, Jacinda B.; Vazquez, Jessica; Smith, Heather L.; Pytel, Peter; Ferns, Michael
Journal:: Muscle & nerve
Issue:: Volume 64:Issue 2(2021)
Page Start:: 219
Record Type:: Journal Article
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2. Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Issue 3 (14th February 2018)

Authors:: Maselli, Ricardo A.; Vázquez, Jessica; Schrumpf, Leah; Arredondo, Juan; Lara, Marian; Strober, Jonathan B.; Pytel, Peter; Wollmann, Robert L.; Ferns, Michael
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 6:Issue 3(2018)
Page Start:: 434
Record Type:: Journal Article
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3. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C‐terminal amino acid sequence. Issue 7 (6th April 2020)

Authors:: Maselli, Ricardo A.; van der Linden, Hélio; Ferns, Michael
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 7(2020)
Page Start:: 1744
Record Type:: Journal Article
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