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David Beeson

Showing results (31-40 of 139) with videos related to

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Neuromuscular Disorders : NMD|January 4, 2022
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case reportChristoffer Ehrstedt, Wei-Wei Liu, Carina Frykholm, et al.
Human Molecular Genetics|October 9, 2004
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human conditionJudy Cossins, Richard Webster, Susan Maxwell, et al.
Muscle & Nerve|June 6, 2022
Pregnancy outcomes in patients with congenital myasthenic syndromesKaren O'Connell, Tatiana Rooney, Setareh Alabaf, et al.
European Journal of Immunology|January 4, 2005
Isolation of potent human Fab fragments against a novel highly immunogenic region on human muscle acetylcholine receptor which protect the receptor from myasthenic autoantibodiesEfrosini Fostieri, Socrates J Tzartos, Sonia Berrih-Aknin, et al.
Neuromuscular Disorders : NMD|December 16, 2014
Congenital myasthenic syndrome caused by mutations in DPAGTAndrea Klein, Stephanie Robb, Elisabeth Rushing, et al.
Neuromuscular Disorders : NMD|April 18, 2013
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1Keivan Basiri, Katsiaryna Belaya, Wei Wei Liu, et al.
Journal of the Neurological Sciences|January 12, 2015
Collagen Q--a potential target for autoantibodies in myasthenia gravisMarta Zoltowska Katarzyna, Katsiaryna Belaya, Maria Leite, et al.
Biomedicines|November 27, 2024
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic SyndromesFinlay Ryan-Phillips, Leighann Henehan, Sithara Ramdas, et al.
Archives of Disease in Childhood|February 7, 2014
How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myastheniaJeremy Ross Parr, Morag Jane Andrew, Maria Finnis, et al.
Journal of Neuroimmunology|March 6, 2007
Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell culturesMaria Elena Farrugia, Domenico Marco Bonifati, Linda Clover, et al.
Pageof 14

Showing results (31-40 of 139) with videos related to

Sort By:
Pageof 14
Neuromuscular Disorders : NMD|January 4, 2022
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case reportChristoffer Ehrstedt, Wei-Wei Liu, Carina Frykholm, et al.
Human Molecular Genetics|October 9, 2004
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human conditionJudy Cossins, Richard Webster, Susan Maxwell, et al.
Muscle & Nerve|June 6, 2022
Pregnancy outcomes in patients with congenital myasthenic syndromesKaren O'Connell, Tatiana Rooney, Setareh Alabaf, et al.
European Journal of Immunology|January 4, 2005
Isolation of potent human Fab fragments against a novel highly immunogenic region on human muscle acetylcholine receptor which protect the receptor from myasthenic autoantibodiesEfrosini Fostieri, Socrates J Tzartos, Sonia Berrih-Aknin, et al.
Neuromuscular Disorders : NMD|December 16, 2014
Congenital myasthenic syndrome caused by mutations in DPAGTAndrea Klein, Stephanie Robb, Elisabeth Rushing, et al.
Neuromuscular Disorders : NMD|April 18, 2013
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1Keivan Basiri, Katsiaryna Belaya, Wei Wei Liu, et al.
Journal of the Neurological Sciences|January 12, 2015
Collagen Q--a potential target for autoantibodies in myasthenia gravisMarta Zoltowska Katarzyna, Katsiaryna Belaya, Maria Leite, et al.
Biomedicines|November 27, 2024
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic SyndromesFinlay Ryan-Phillips, Leighann Henehan, Sithara Ramdas, et al.
Archives of Disease in Childhood|February 7, 2014
How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myastheniaJeremy Ross Parr, Morag Jane Andrew, Maria Finnis, et al.
Journal of Neuroimmunology|March 6, 2007
Effect of sera from AChR-antibody negative myasthenia gravis patients on AChR and MuSK in cell culturesMaria Elena Farrugia, Domenico Marco Bonifati, Linda Clover, et al.
Pageof 14