Francesca Vitali, Mario Nuvolone, Angela Romano, Maria Ausilia Sciarrone, Angelo Tiziano Cimmino, Valeria Di Simone, Paolo Calabresi, Laura Obici, Giovanni Palladini, Marco Luigetti
{"title":"意大利混合表型遗传性转甲状腺蛋白淀粉样变性患者的新型转甲状腺素变异p.Val114Glu (Val94Glu)","authors":"Francesca Vitali, Mario Nuvolone, Angela Romano, Maria Ausilia Sciarrone, Angelo Tiziano Cimmino, Valeria Di Simone, Paolo Calabresi, Laura Obici, Giovanni Palladini, Marco Luigetti","doi":"10.1080/13506129.2025.2508437","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-5"},"PeriodicalIF":7.4000,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel transthyretin variant p.Val114Glu (Val94Glu) in an Italian patient with mixed phenotype hereditary transthyretin amyloidosis.\",\"authors\":\"Francesca Vitali, Mario Nuvolone, Angela Romano, Maria Ausilia Sciarrone, Angelo Tiziano Cimmino, Valeria Di Simone, Paolo Calabresi, Laura Obici, Giovanni Palladini, Marco Luigetti\",\"doi\":\"10.1080/13506129.2025.2508437\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":50964,\"journal\":{\"name\":\"Amyloid-Journal of Protein Folding Disorders\",\"volume\":\" \",\"pages\":\"1-5\"},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2025-05-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyloid-Journal of Protein Folding Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/13506129.2025.2508437\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyloid-Journal of Protein Folding Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13506129.2025.2508437","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
期刊介绍:
Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are:
etiology,
pathogenesis,
histopathology,
chemical structure,
nature of fibrillogenesis;
whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders.
Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.