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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Fatal Familial Insomnia[original query]
Genetic prion disease: the EUROCJD experience.
Human genetics 2005 Nov 118 (2): 166-74.
Kovács Gábor G, Puopolo Maria, Ladogana Anna, Pocchiari Maurizio, Budka Herbert, van Duijn Cornelia, Collins Steven J, Boyd Alison, Giulivi Antonio, Coulthart Mike, Delasnerie-Laupretre Nicole, Brandel Jean Philippe, Zerr Inga, Kretzschmar Hans A, de Pedro-Cuesta Jesus, Calero-Lara Miguel, Glatzel Markus, Aguzzi Adriano, Bishop Matthew, Knight Richard, Belay Girma, Will Robert, Mitrova Eva,
Early detection of abnormal prion protein in genetic human prion diseases now possible using real-time QUIC assay.
PloS one 2013 8 (1): 1.
Sano K, Satoh K, Atarashi R, Takashima H, Iwasaki Y, Yoshida M, Sanjo N, Murai H, Mizusawa H, Schmitz M, Zerr I, Kim YS, Nishida N
The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI.
Prion 2017 12 12 (1): 34-41.
Gao Chen, Shi Qiang, Wei Jing, Zhou Wei, Xiao Kang, Wang Jing, Shi Qi, Dong Xiao-Pi
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Molecular neurobiology 2018 8 56 (4): 2811-2821.
Villar-Piqué Anna, Schmitz Matthias, Lachmann Ingolf, Karch André, Calero Olga, Stehmann Christiane, Sarros Shannon, Ladogana Anna, Poleggi Anna, Santana Isabel, Ferrer Isidre, Mitrova Eva, Žáková Dana, Pocchiari Maurizio, Baldeiras Inês, Calero Miguel, Collins Steven J, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra
An in vivo C-PK PET study of microglia activation in Fatal Familial Insomnia.
Annals of clinical and translational neurology 2018 1 5 (1): 11-18.
Iaccarino Leonardo, Presotto Luca, Bettinardi Valentino, Gianolli Luigi, Roiter Ignazio, Capellari Sabina, Parchi Piero, Cortelli Pietro, Perani Danie
Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.
Journal of neurology, neurosurgery, and psychiatry 2021 10 93 (3): 291-297.
Zhang Jing, Chu Min, Tian ZiChen, Xie KeXin, Cui Yue, Liu Li, Meng JiaLi, Yan HaiHan, Ji Yang-Mingyue, Jiang Zhuyi, Xia Tian-Xinyu, Wang Dongxin, Wang Xin, Zhao Ye, Ye Hong, Li Junjie, Wang Lin, Wu Liyo
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Brain : a journal of neurology 2022 3 145 (2): 700-712.
Schmitz Matthias, Villar-Piqué Anna, Hermann Peter, Escaramís Geòrgia, Calero Miguel, Chen Cao, Kruse Niels, Cramm Maria, Golanska Ewa, Sikorska Beata, Liberski Pawel P, Pocchiari Maurizio, Lange Peter, Stehmann Christiane, Sarros Shannon, Martí Eulàlia, Baldeiras Inês, Santana Isabel, Žáková Dana, Mitrová Eva, Dong Xiao-Ping, Collins Steven, Poleggi Anna, Ladogana Anna, Mollenhauer Brit, Kovacs Gabor G, Geschwind Michael D, Sánchez-Valle Raquel, Zerr Inga, Llorens Fra
Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.
Cells 2023 8 12 (16): .
Katrin Thüne, Matthias Schmitz, John Wiedenhöft, Orr Shomroni, Stefan Göbel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Ze
Prion Mutations in Republic of Republic of Korea, China, and Japan.
International journal of molecular sciences 2023 1 24 (1): .
Kim Dan Yeong, Shim Kyu Hwan, Bagyinszky Eva, An Seong Soo
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