Works matching Fatal familial insomnia

Results: 195

Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus.

Published in:

Brain Pathology, 2017, v. 27, n. 1, p. 95, doi. 10.1111/bpa.12408

By:

Frau‐Méndez, Margalida A.;
Fernández‐Vega, Iván;
Ansoleaga, Belén;
Blanco Tech, Rosa;
Carmona Tech, Margarita;
Antonio del Rio, Jose;
Zerr, Inga;
Llorens, Franc;
José Zarranz, Juan;
Ferrer, Isidro

Publication type:

Article

Early age of onset in fatal familial insomnia: Two novel cases and review of the literature.

Published in:

Journal of Neurology, 2004, v. 251, n. 6, p. 715, doi. 10.1007/s00415-004-0409-0

By:

Harder, A.;
Gregor, A.;
Wirth, T.;
Kreuz, F.;
Schulz-Schaeffer, W.J.;
Windl, O.;
Plotkin, M.;
Amthauer, H.;
Neukirch, K.;
Kretzschmar, H.A.;
Kuhlmann, T.;
Braas, R.;
Hahne, H.H.;
Jendroska, K.

Publication type:

Article

Fatal familial insomnia: Reporting a case of the rare nightmare.

Published in:

Journal of Postgraduate Medicine, 2024, v. 70, n. 4, p. 252, doi. 10.4103/jpgm.jpgm_582_24

By:

Hogue, E;
Weinberg, D;
Palecek, E

Publication type:

Article

Can insomnia be fatal? An Australian case of fatal familial insomnia.

Published in:

Internal Medicine Journal, 2022, v. 52, n. 4, p. 667, doi. 10.1111/imj.15737

By:

Habteslassie, Daniel;
McMahon, Marcus;
Wimaleswaran, Hari

Publication type:

Article

Brain microglia were activated in sporadic CJD but almost unchanged in fatal familial insomnia and G114V genetic CJD.

Published in:

Virology Journal, 2013, v. 10, n. 1, p. 1, doi. 10.1186/1743-422X-10-216

By:

Qi Shi;
Wu-Ling Xie;
BaoYun Zhang;
Li-Na Chen;
Yin Xu;
Ke Wang;
Ke Ren;
Xiao-Mei Zhang;
Cao Chen;
Jin Zhang;
Xiao-Ping Dong

Publication type:

Article

Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review.

Published in:

2017

By:

Tingting Lu;
Yuhang Pan;
Lisheng Peng;
Feng Qin;
Xiaobo Sun;
Zhengqi Lu;
Wei Qiu;
Lu, Tingting;
Pan, Yuhang;
Peng, Lisheng;
Qin, Feng;
Sun, Xiaobo;
Lu, Zhengqi;
Qiu, Wei

Publication type:

journal article

Rare health conditions 26: fatal familial insomnia, Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome.

Published in:

British Journal of Healthcare Assistants, 2019, v. 13, n. 8, p. 370, doi. 10.12968/bjha.2019.13.8.370

By:

Barber, Chris

Publication type:

Article

First experimental transmission of fatal familial insomnia.

Published in:

Nature, 1995, v. 376, n. 6539, p. 434, doi. 10.1038/376434a0

By:

Tateishi, Jun;
Brown, Paul

Publication type:

Article

Losing sleep over mitochondria: a new player in the pathophysiology of fatal familial insomnia.

Published in:

Brain Pathology, 2017, v. 27, n. 1, p. 107, doi. 10.1111/bpa.12410

By:

Glatzel, Markus;
Sepulveda‐Falla, Diego

Publication type:

Article

Frontal diaschisis in a German case of fatal familial insomnia.

Published in:

Journal of Neurology, 2006, v. 253, n. 11, p. 1510, doi. 10.1007/s00415-006-0263-3

By:

Wermke, Marc;
Teipel, Stijan;
Fuchsberger, Thomas;
Kretzschmar, Hans;
Westner, Ingo;
Schröder, Mira;
Hampel, Harald;
Drzezga, Alex

Publication type:

Article

Fatal familial insomnia: clinical features and molecular genetics.

Published in:

Journal of Sleep Research, 1999, v. 8, p. 23, doi. 10.1046/j.1365-2869.1999.00005.x

By:

Cortelli;
Gambetti;
Montagna;
Lugaresi;
Lugaresi, Elio

Publication type:

Article

The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.

Published in:

2011

By:

Jansen, C.;
Parchi, P.;
Jelles, B.;
Gouw, A. A.;
Beunders, G.;
van Spaendonk, R. M. L.;
van de Kamp, J. M.;
Lemstra, A. W.;
Capellari, S.;
Rozemuller, A. J. M.

Publication type:

Other

A case of fatal familial insomnia in Africa.

Published in:

2009

By:

Baldin, Elisa;
Capellari, Sabina;
Provini, Federica;
Corrado, Patrizia;
Liguori, Rocco;
Parchi, Piero;
Montagna, Pasquale;
Cortelli, Pietro

Publication type:

Letter

Early onset fatal familial insomnia with rapid progression in a Chinese family line.

Published in:

Journal of Neurology, 2007, v. 254, n. 9, p. 1300, doi. 10.1007/s00415-006-0517-0

By:

Shuiliang Yu;
Yunjian Zhang;
Shu Li;
Man-Sun Sy;
Sun, Shenggang;
Po Tien;
Gengfu Xiao

Publication type:

Article

Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.

Published in:

Acta Neuropathologica, 2011, v. 121, n. 1, p. 21, doi. 10.1007/s00401-010-0760-4

By:

Capellari, Sabina;
Strammiello, Rosaria;
Saverioni, Daniela;
Kretzschmar, Hans;
Parchi, Piero

Publication type:

Article

Transgenic Fatal Familial Insomnia Mice Indicate Prion Infectivity-Independent Mechanisms of Pathogenesis and Phenotypic Expression of Disease.

Published in:

PLoS Pathogens, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.ppat.1004796

By:

Bouybayoune, Ihssane;
Mantovani, Susanna;
Bertani, Ilaria;
Restelli, Elena;
Comerio, Liliana;
Tapella, Laura;
Paladini, Alessandra;
Balducci, Claudia;
Micotti, Edoardo;
Forloni, Gianluigi;
Chiesa, Roberto;
Del Gallo, Federico;
Baracchi, Francesca;
Imeri, Luca;
Fernández-Borges, Natalia;
Castilla, Joaquín;
Mangieri, Michela;
Tagliavini, Fabrizio;
Bisighini, Cinzia;
Fiordaliso, Fabio

Publication type:

Article

β-CIT SPECT demonstrates reduced availability of serotonin transporters in patients with Fatal Familial Insomnia.

Published in:

Journal of Neural Transmission, 2002, v. 109, n. 7/8, p. 1105

By:

Klöppel, S.;
Pirker, W.;
Brücke, T.;
Kovács, G. G.;
Almer, G.

Publication type:

Article

A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.

Published in:

2024

By:

Qiao, Meizhao;
Wu, Huimin;
Chi, Lei;
Yao, Qun;
Qi, Xinyang;
Ye, Xing;
Lin, Xingjian;
Tian, Minjie

Publication type:

Case Study

Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 162, doi. 10.1002/mdc3.13116

By:

Baldelli, Luca;
Provini, Federica;
Cortelli, Pietro

Publication type:

Article

Reply to: Fatal Familial Insomnia: A Rare Disease with Unique Clinico‐Neurophysiological Features.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 164, doi. 10.1002/mdc3.13115

By:

Kukkle, Prashanth L.;
Geetha, Thenral S.;
Mahadevan, Anita;
Ramprasad, Vedam L.

Publication type:

Article

Thirty years of fatal familial insomnia and autonomic research: celebrating the past, embracing the future.

Published in:

2021

By:

Cortelli, Pietro

Publication type:

Editorial

Plasma neurofilament light chain as a biomarker for fatal familial insomnia.

Published in:

European Journal of Neurology, 2022, v. 29, n. 6, p. 1841, doi. 10.1111/ene.15302

By:

Hermann, Peter;
Canaslan, Sezgi;
Villar‐Piqué, Anna;
Bunck, Timothy;
Goebel, Stefan;
Llorens, Franc;
Schmitz, Matthias;
Zerr, Inga

Publication type:

Article

The clinical features in Chinese patients with PRNP D178N mutation.

Published in:

Acta Neurologica Scandinavica, 2018, v. 138, n. 2, p. 151, doi. 10.1111/ane.12924

By:

Chen, S.;
He, S.;
Shi, X.‐H.;
Shen, X.‐J.;
Liang, K.‐K.;
Zhao, J.‐H.;
Yan, B.‐C.;
Zhang, J.‐W.

Publication type:

Article

A case of fatal familial insomnia: diagnostic and therapeutic approaches.

Published in:

2022

By:

Rose, Deborah K.;
Liu, Andy J.

Publication type:

Case Study

Proposal of new diagnostic criteria for fatal familial insomnia.

Published in:

Journal of Neurology, 2022, v. 269, n. 9, p. 4909, doi. 10.1007/s00415-022-11135-6

By:

Chu, Min;
Xie, Kexin;
Zhang, Jing;
Chen, Zhongyun;
Ghorayeb, Imad;
Rupprecht, Sven;
Reder, Anthony T.;
Garay, Arturo;
Honda, Hiroyuki;
Nagayama, Masao;
Shi, Qi;
Zhan, Shuqin;
Nan, Haitian;
Zhang, Jiatang;
Guan, Hongzhi;
Cui, Li;
Guo, Yanjun;
Rosa-Neto, Pedro;
Gauthier, Serge;
Wang, Jiawei

Publication type:

Article

Clinical significance of fatal laryngeal stridor in fatal familial insomnia.

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 4, p. 193, doi. 10.1111/ncn3.12293

By:

Fukuoka, Takuya;
Kawasaki, Hitoshi;
Nakazato, Yoshihiko;
Takahashi, Kazushi;
Ikeda, Kei;
Furuya, Tomotsugu;
Miyake, Akifumi;
Mitsufuji, Takashi;
Ito, Yasuo;
Araki, Nobuo;
Yamamoto, Toshimasa

Publication type:

Article

Defining the Prion Type of Fatal Familial Insomnia.

Published in:

Pathogens, 2021, v. 10, n. 10, p. 1293, doi. 10.3390/pathogens10101293

By:

Jürgens-Wemheuer, Wiebke;
Wrede, Arne;
Schulz-Schaeffer, Walter

Publication type:

Article

Prion Diseases.

Published in:

Journal of NeuroVirology, 2003, v. 9, n. 2, p. 183, doi. 10.1080/13550280390194082

By:

McKintosh, Edward;
Tabrizi, Sarah J.;
Collinge, John

Publication type:

Article

Midbrain Hypometabolism in Fatal Familial Insomnia: A Case Report and a Statistical Parametric Mapping Analysis of a Korean Family.

Published in:

Case Reports in Neurology, 2014, v. 6, n. 3, p. 243, doi. 10.1159/000365412

By:

Lee, Mi Ji;
Shin, Jisoo;
Chung, Eun Joo;
Kim, Sang-Jin;
Kwon, Soonwook;
Kim, Jung-Hyun;
Seo, Sang Won;
Ki, Chang-Seok;
Na, Duk L.

Publication type:

Article

Insomnia as a benign presentation of fatal familial insomnia (FFI). A case report from Malaysia.

Published in:

Asian Journal of Medical Sciences, 2021, v. 12, n. 8, p. 155, doi. 10.3126/ajms.v12i8.37988

By:

Teo Soon Kiat, Richard;
Wan Chung, Law

Publication type:

Article

Creutzfeldt–Jakob Disease and Fatal Familial Insomnia: Demographics and In-Hospital Mortality in Spain.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 15, p. 4401, doi. 10.3390/jcm13154401

By:

Cuadrado-Corrales, Natividad;
Lopez-de-Andres, Ana;
Hernández-Barrera, Valentín;
De-Miguel-Díez, Javier;
Jimenez-Sierra, Ana;
Carabantes-Alarcon, David;
Zamorano-Leon, Jose J.;
Jimenez-Garcia, Rodrigo

Publication type:

Article

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.

Published in:

Cells (2073-4409), 2023, v. 12, n. 16, p. 2053, doi. 10.3390/cells12162053

By:

Thüne, Katrin;
Schmitz, Matthias;
Wiedenhöft, John;
Shomroni, Orr;
Göbel, Stefan;
Bunck, Timothy;
Younas, Neelam;
Zafar, Saima;
Hermann, Peter;
Zerr, Inga

Publication type:

Article

Behavioural and neurophysiologic features of state dissociation: A brief review of the literature and three descriptive case studies.

Published in:

Behavioural Neurology, 2010, v. 22, n. 3/4, p. 91, doi. 10.1155/2010/296385

By:

Raggi, Alberto;
Cosentino, Filomena I.I.;
Lanuzza, Bartolo;
Ferri, Raffaele

Publication type:

Article

Fatal familial insomnia: Clinical features and early identification.

Published in:

Annals of Neurology, 2008, v. 63, n. 5, p. 658, doi. 10.1002/ana.21358

By:

Krasnianski, Anna;
Bartl, Mario;
Sanchez Juan, Pascual J.;
Heinemann, Uta;
Meissner, Bettina;
Varges, Daniela;
Schulze-Sturm, Ulf;
Kretzschmar, Haus A.;
Schulz-Schaeffer, Walter J.;
Zerr, Inga

Publication type:

Article

Regional distribution of protease-resistant prion protein in fatal familial insomnia.

Published in:

Annals of Neurology, 1995, v. 38, n. 1, p. 21, doi. 10.1002/ana.410380107

By:

Parchi, Piero;
Castellani, Rudy;
Cortelli, Pietro;
Montagna, Pasquale;
Chen, Shu G.;
Petersen, Robert B.;
Manetto, Valeria;
Vnencak-Jones, Cindy L.;
McLean, Michael J.;
Sheller, James R.;
Lugaresi, Elio;
Autilio-Gambetti, Lucila;
Gambetti, Pierluigi

Publication type:

Article

Dissociated 24-Hour Patterns of Somatotropin and Prolactin in Fatal Familial Insomnia.

Published in:

Neuroendocrinology, 1995, v. 61, n. 6, p. 731, doi. 10.1159/000126901

By:

Portaluppi, Francesco;
Cortelli, Pietro;
Avoni, Patrizia;
Vergnani, Luciana;
Maltoni, Paolo;
Pavani, Anna;
Sforza, Emilia;
Manfredini, Roberto;
Montagna, Pasquale;
Roiter, Ignazio;
Gambetti, Pierluigi;
Fersini, Carmelo;
Lugaresi, Elio

Publication type:

Article

Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.

Published in:

PLoS Genetics, 2023, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1010565

By:

Foliaki, Simote T.;
Smith, Anna;
Schwarz, Benjamin;
Bohrnsen, Eric;
Bosio, Catharine M.;
Williams, Katie;
Orrú, Christina D.;
Lachenauer, Hailey;
Groveman, Bradley R.;
Haigh, Cathryn L.

Publication type:

Article

Agrypnia Excitata: Deliryum Tremens Olgusu Bağlamında Bir Literatür Derlemesi.

Published in:

Journal of Turkish Sleep Medicine, 2021, v. 8, n. 3, p. 174, doi. 10.4274/jtsm.galenos.2021.95866

By:

Kavla, Yasin;
Gezer, Tuğrul;
Şenel, Gülçin Benbir

Publication type:

Article

Fatal Familial Insomnia with Early Dysautonomia and Diabetes.

Published in:

2021

By:

Liu, Ran R.;
Melanson, Michel;
Bendahan, Nathaniel;
Briggs, Deborah E.;
Taylor, Sean W.;
Boissé Lomax, Lysa

Publication type:

Letter

Neuro‐Ophthalmological Findings in Early Fatal Familial Insomnia.

Published in:

Annals of Neurology, 2021, v. 89, n. 4, p. 823, doi. 10.1002/ana.26008

By:

Mastrangelo, Vincenzo;
Merli, Elena;
Rucker, Janet C.;
Eggenberger, Eric R.;
Zee, David S.;
Cortelli, Pietro

Publication type:

Article

PMCA-generated prions from the olfactory mucosa of patients with Fatal Familial Insomnia cause prion disease in mice.

Published in:

eLife, 2021, p. 1, doi. 10.7554/eLife.65311

By:

Bistaffa, Edoardo;
Marín-Moreno, Alba;
Espinosa, Juan Carlos;
Giulia De Luca, Chiara Maria;
Cazzaniga, Federico Angelo;
Portaleone, Sara Maria;
Celauro, Luigi;
Legname, Giuseppe;
Giaccone, Giorgio;
Torres, Juan Maria;
Moda, Fabio

Publication type:

Article

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined...

Published in:

1993

By:

Goldfarb, Lev G.;
Smith, Jeanette M.

Publication type:

Abstract

Alteration of the serotonergic nervous system in fatal familial insomnia.

Published in:

Annals of Neurology, 2000, v. 48, n. 5, p. 788, doi. 10.1002/1531-8249(200011)48:5<788::AID-ANA13>3.0.CO;2-5

By:

Wanschitz, Julia;
Klöppel, Stefan;
Jarius, Christa;
Birner, Peter;
Flicker, Helga;
Hainfellner, Johannes A.;
Gambetti, Pierluigi;
Guentchev, Marin;
Budka, Herbert

Publication type:

Article

Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 61, doi. 10.1007/s00439-005-1277-0

By:

Rodríguez-Martínez, Ana B.;
Barreau, Christian;
Coupry, Isabelle;
Yagüe, Jordi;
Sánchez-Valle, Raquel;
Galdós-Alcelay, Luis;
x00ed;n#Ibáñez, Agust&;
x00f3;n#Digón, Ant&;
Fernández-Manchola, Ignacio;
Goizet, Cyril;
Castro, Azucena;
Cuevas, Nerea;
Alvarez-Alvarez, Maite;
Pancorbo, Marian;
x00ee;t#Arveiler, Beno&;
Zarranz, Juan J.

Publication type:

Article

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader–Willi syndrome and Moebius syndrome.

Published in:

Journal of Sleep Research, 1999, v. 8, p. 14, doi. 10.1046/j.1365-2869.1999.00004.x

By:

Parkes;
Parkes, J. David

Publication type:

Article

Fatal familial insomnia: clinical features and molecular genetics.

Published in:

Journal of Sleep Research, 1999, v. 8, p. 23, doi. 10.1046/j.1365-2869.1999.00005.x

By:

Cortelli;
Gambetti;
Montagna;
Lugaresi

Publication type:

Article

Fatal familial insomnia with an unusual prion protein deposition pattern: an autopsy report with an experimental transmission study.

Published in:

Neuropathology & Applied Neurobiology, 2005, v. 31, n. 1, p. 80, doi. 10.1111/j.1365-2990.2004.00592.x

By:

Sasaki, K.;
Doh-ura, K.;
Wakisaka, Y.;
Tomoda, H.;
Iwaki, T.

Publication type:

Article

Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 3, p. 668, doi. 10.1093/brain/awl003

By:

Pietro Cortelli;
Daniela Perani;
Pasquale Montagna;
Roberto Gallassi;
Paolo Tinuper;
Provini Federica;
Patrizia Avoni;
Franco Ferrillo;
Davide Anchisi;
Rosa Maria Moresco;
Ferruccio Fazio;
Piero Parchi;
Agostino Baruzzi;
Elio Lugaresi;
Pierluigi Gambetti

Publication type:

Article

Fatal familial insomnia: a new Austrian family.

Published in:

Brain: A Journal of Neurology, 1999, v. 122, n. 1, p. 5, doi. 10.1093/brain/122.1.5

By:

Almer, G;
Hainfellner, JA;
Brücke, T;
Jellinger, K;
Kleinert, R;
Bayer, G;
Windl, O;
Kretzschmar, HA;
Hill, A;
Sidle, K;
Collinge, J;
Budka, H

Publication type:

Article

Prion susceptibility and protective alleles exhibit marked geographic differences (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #628 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157

By:

Marta Soldevila;
Francesc Calafell;
Aida M. Andrés;
Jordi Yagüe;
Agnar Helgason;
Kári Stefánsson;
Jaume Bertranpetit

Publication type:

Article