The Experts below are selected from a list of 1377 Experts worldwide ranked by ideXlab platform
Manfred W Kilimann - One of the best experts on this subject based on the ideXlab platform.
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primary structure of human amphiphysin the dominant autoantigen of paraneoplastic stiff man syndrome and mapping of its gene amph to chromosome 7p13 p14
Human Molecular Genetics, 1995Co-Authors: Raina Yamamoto, Silke Winter, Uta Francke, Manfred W KilimannAbstract:Amphiphysin is a protein peripherally associated with synaptic vesicles. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients afflicted with a rare Neurologic Autoimmune Disease, paraneoplastic Stiff-Man syndrome. To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. Comparison with chicken amphiphysin defines domains of low and high amino acid sequence conservation. As a candidate for heritable disorders of the nervous system, endocrine tissues or male fertility, the human amphiphysin gene was mapped to chromosome 7, region p13-p14.
Raina Yamamoto - One of the best experts on this subject based on the ideXlab platform.
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primary structure of human amphiphysin the dominant autoantigen of paraneoplastic stiff man syndrome and mapping of its gene amph to chromosome 7p13 p14
Human Molecular Genetics, 1995Co-Authors: Raina Yamamoto, Silke Winter, Uta Francke, Manfred W KilimannAbstract:Amphiphysin is a protein peripherally associated with synaptic vesicles. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients afflicted with a rare Neurologic Autoimmune Disease, paraneoplastic Stiff-Man syndrome. To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. Comparison with chicken amphiphysin defines domains of low and high amino acid sequence conservation. As a candidate for heritable disorders of the nervous system, endocrine tissues or male fertility, the human amphiphysin gene was mapped to chromosome 7, region p13-p14.
Uta Francke - One of the best experts on this subject based on the ideXlab platform.
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primary structure of human amphiphysin the dominant autoantigen of paraneoplastic stiff man syndrome and mapping of its gene amph to chromosome 7p13 p14
Human Molecular Genetics, 1995Co-Authors: Raina Yamamoto, Silke Winter, Uta Francke, Manfred W KilimannAbstract:Amphiphysin is a protein peripherally associated with synaptic vesicles. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients afflicted with a rare Neurologic Autoimmune Disease, paraneoplastic Stiff-Man syndrome. To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. Comparison with chicken amphiphysin defines domains of low and high amino acid sequence conservation. As a candidate for heritable disorders of the nervous system, endocrine tissues or male fertility, the human amphiphysin gene was mapped to chromosome 7, region p13-p14.
Silke Winter - One of the best experts on this subject based on the ideXlab platform.
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primary structure of human amphiphysin the dominant autoantigen of paraneoplastic stiff man syndrome and mapping of its gene amph to chromosome 7p13 p14
Human Molecular Genetics, 1995Co-Authors: Raina Yamamoto, Silke Winter, Uta Francke, Manfred W KilimannAbstract:Amphiphysin is a protein peripherally associated with synaptic vesicles. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients afflicted with a rare Neurologic Autoimmune Disease, paraneoplastic Stiff-Man syndrome. To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. Comparison with chicken amphiphysin defines domains of low and high amino acid sequence conservation. As a candidate for heritable disorders of the nervous system, endocrine tissues or male fertility, the human amphiphysin gene was mapped to chromosome 7, region p13-p14.
Josep Dalmau - One of the best experts on this subject based on the ideXlab platform.
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neuronal surface antibody mediated Autoimmune encephalitis
Seminars in Neurology, 2014Co-Authors: Jenny J Linnoila, Myrna R Rosenfeld, Josep DalmauAbstract:In the past few years, many Autoimmune encephalitides have been identified, with specific clinical syndromes and associated antibodies against neuronal surface antigens. There is compelling evidence that many of these antibodies are pathogenic and most of these encephalitides are highly responsive to immunotherapies. The clinical spectra of some of these antibody-mediated syndromes, especially those reported in only a few patients, are evolving. Others, such as anti-N-methyl-D-aspartate (NMDA) receptor encephalitis, are well characterized. Diagnosis involves recognizing the specific syndromes and identifying the antibody in a patient's cerebrospinal fluid (CSF) and/or serum. These syndromes are associated with variable abnormalities in CSF, magnetic resonance imaging, and electroencephalography. Treatment is often multidisciplinary and should be focused upon neutralizing the effects of antibodies and eliminating their source. Overlapping disorders have been noted, with some patients having more than one Neurologic Autoimmune Disease. In other patients, viral infections such as herpes simplex virus encephalitis trigger robust antineuronal Autoimmune responses.