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Human Molecular Genetics
|
April 10, 2013
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
Katarzyna Zoltowska, Richard Webster, Sarah Finlayson, et al.
Human Molecular Genetics
|
June 5, 2012
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome
Judith Cossins, Wei Wei Liu, Katsiaryna Belaya, et al.
The Journal of Physiology
|
June 4, 2019
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line
Hakan Cetin, Wei Liu, Jonathan Cheung, et al.
Brain : a Journal of Neurology
|
April 25, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathy
Jacqueline Palace, Daniel Lashley, John Newsom-Davis, et al.
Psychological Trauma : Theory, Research, Practice and Policy
|
May 5, 2022
Pretreatment stabilization increases completion of trauma-focused evidence-based psychotherapies
Anna H Staudenmeyer, Susan Maxwell, Brian Mohlenhoff, et al.
Neuromuscular Disorders : NMD
|
January 25, 2021
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report
Anomali Vidanagamage, Inuka Kishara Gooneratne, Shanika Nandasiri, et al.
Brain : a Journal of Neurology
|
September 2, 2006
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
Judy Cossins, Georgina Burke, Susan Maxwell, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
August 15, 2023
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation
Michelangelo Cao, Wei-Wei Liu, Susan Maxwell, et al.
Journal of the Neurological Sciences
|
December 7, 2010
Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China
Li Yang, Susan Maxwell, M Isabel Leite, et al.
Journal of Neuromuscular Diseases
|
November 20, 2020
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
Inuka Kishara Gooneratne, Shanika Nandasiri, Susan Maxwell, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 46) with videos related to
Sort By:
Page
of 5
Human Molecular Genetics
|
April 10, 2013
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
Katarzyna Zoltowska, Richard Webster, Sarah Finlayson, et al.
Human Molecular Genetics
|
June 5, 2012
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome
Judith Cossins, Wei Wei Liu, Katsiaryna Belaya, et al.
The Journal of Physiology
|
June 4, 2019
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line
Hakan Cetin, Wei Liu, Jonathan Cheung, et al.
Brain : a Journal of Neurology
|
April 25, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathy
Jacqueline Palace, Daniel Lashley, John Newsom-Davis, et al.
Psychological Trauma : Theory, Research, Practice and Policy
|
May 5, 2022
Pretreatment stabilization increases completion of trauma-focused evidence-based psychotherapies
Anna H Staudenmeyer, Susan Maxwell, Brian Mohlenhoff, et al.
Neuromuscular Disorders : NMD
|
January 25, 2021
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report
Anomali Vidanagamage, Inuka Kishara Gooneratne, Shanika Nandasiri, et al.
Brain : a Journal of Neurology
|
September 2, 2006
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
Judy Cossins, Georgina Burke, Susan Maxwell, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
August 15, 2023
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation
Michelangelo Cao, Wei-Wei Liu, Susan Maxwell, et al.
Journal of the Neurological Sciences
|
December 7, 2010
Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China
Li Yang, Susan Maxwell, M Isabel Leite, et al.
Journal of Neuromuscular Diseases
|
November 20, 2020
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
Inuka Kishara Gooneratne, Shanika Nandasiri, Susan Maxwell, et al.
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