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1,838 Newest Publications in annals of the new york academy of sciences

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The unfolding landscape of the congenital myasthenic syndromes

21-Jan-2018 | Andrew G. Engel, Xin‐Ming Shen, Duygu Selcen, Annals of the New York Academy of Sciences, 2018

Abstract Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next‐generation sequencing methods, the discovery of novel CMS targets and phenotypes has ...

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Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies

21-Jan-2018 | Jan J.G.M. Verschuuren, Jaap J. Plomp, Steve J. Burden, Wei Zhang, Yvonne E. Fillié‐Grijpma, Inge E. Stienstra‐van E ..., Annals of the New York Academy of Sciences, 2018

Abstract Myasthenia gravis (MG) with antibodies to muscle‐specific kinase (MuSK) is characterized by fluctuating fatigable weakness. In MuSK MG, involvement of bulbar muscles, neck, and shoulder and respiratory weakness are more prominent than in acetylcholine receptor (AChR) MG. MuSK ...

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Acetylcholine receptor antibody–mediated animal models of myasthenia gravis and the role of complement

21-Jan-2018 | Linda L. Kusner, Manjistha Sengupta, Henry J. Kaminski, Annals of the New York Academy of Sciences, 2018

Abstract Because of the failure of many promising therapeutics identified in preclinical evaluation, funding sources have established guidelines for increased rigor in animal evaluations. The myasthenia gravis (MG) community of scientists has developed guidelines for preclinical assessment for ...

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Gut microbiota and probiotics: novel immune system modulators in myasthenia gravis?

17-Jan-2018 | Elena Rinaldi, Alessandra Consonni, Elena Guidesi, Marina Elli, Renato Mantegazza, Fulvio Baggi, Annals of the New York Academy of Sciences, 2018

Abstract Gut microorganisms (microbiota) live in symbiosis with the host and influence human nutrition, metabolism, physiology, and immune development and function. The microbiota prevents pathogen infection to the host, and in turn the host provides a niche for survival. The alteration of gut ...

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Gut microbiota and probiotics: novel immune system modulators in myasthenia gravis?

17-Jan-2018 | Elena Rinaldi, Alessandra Consonni, Elena Guidesi, Marina Elli, Renato Mantegazza, Fulvio Baggi, Annals of the New York Academy of Sciences, 2018

Abstract Gut microorganisms (microbiota) live in symbiosis with the host and influence human nutrition, metabolism, physiology, and immune development and function. The microbiota prevents pathogen infection to the host, and in turn the host provides a niche for survival. The alteration of gut ...

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Age‐related changes in the structure and function of mammalian neuromuscular junctions

01-Jan-2018 | Silvia Willadt, Mark Nash, Clarke Slater, Annals of the New York Academy of Sciences, 2018

Abstract As mammals age, their neuromuscular junctions (NMJs) change their form, with an increasingly complex system of axonal branches innervating increasingly fragmented regions of postsynaptic differentiation. It has been suggested that this remodeling is associated with impairment of ...

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Efficient long‐term depletion of CD20+ B cells by rituximab does not affect gut‐resident plasma cells

01-Jan-2018 | Mathieu Uzzan, Huaibin M. Ko, Adam K. Rosenstein, Kamron Pourmand, Jean‐Frederic Colombel, Saurabh Mehandru, Annals of the New York Academy of Sciences, 2018

Abstract The vast majority of antibody‐producing B cells are located within the gastrointestinal tract and are key players in maintaining homeostasis. The failure of rituximab, a potent B cell–depleting agent, to ameliorate ulcerative colitis in a single clinical trial has dampened enthusiasm ...

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Myasthenia gravis: the role of complement at the neuromuscular junction

21-Dec-2017 | James F. Howard, Annals of the New York Academy of Sciences, 2017

Abstract Generalized myasthenia gravis (gMG) is a rare autoimmune disorder characterized by skeletal muscle weakness caused by disrupted neurotransmission at the neuromuscular junction (NMJ). Approximately 74–88% of patients with gMG have acetylcholine receptor (AChR) autoantibodies. ...

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CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge

21-Dec-2017 | Fatma Elmougy, Sahar Sharaf, Mona Hafez, Ahmed Khattab, Hazem Abou‐Yousef, Marwa Elsharkawy, Heba Baz, Sherif Ekladi ..., Annals of the New York Academy of Sciences, 2017

Abstract CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype–phenotype correlations has facillitated adequate genetic counseling and prenatal management for at‐risk families. Despite extensive ...

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Myasthenia gravis with antibodies to MuSK: an update

21-Dec-2017 | Amelia Evoli, Paolo E. Alboini, Valentina Damato, Raffaele Iorio, Carlo Provenzano, Emanuela Bartoccioni, Mariapaola ..., Annals of the New York Academy of Sciences, 2017

Abstract Myasthenia gravis with antibodies to the muscle‐specific tyrosine kinase (MuSK+ MG) is a rare disease with distinctive pathogenic mechanisms and clinical features. An acute onset and predominant bulbar muscle weakness are very common and highly suggestive of the disease. On the other ...

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