Works matching DE "FATAL familial insomnia"

Results: 42

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

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

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

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

The Family That Couldn't Sleep: A Medical Mystery.

Published in:

2012

By:

Moses, Allen J.

Publication type:

Book Review

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

Widespread Thalamic Terminations of Fibers Arising in the Superficial Medullary Dorsal Horn of Monkeys and Their Relation to Calbindin Immunoreactivity.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 1, p. 248, doi. 10.1523/JNEUROSCI.4122-03.2004

By:

Graziano, Alessandro;
Jones, Edward G.

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

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

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;
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

Copper deficiency elicits glial and neuronal response typical of neurodegenerative disorders.

Published in:

Neuropathology & Applied Neurobiology, 2007, v. 33, n. 2, p. 212, doi. 10.1111/j.1365-2990.2006.00793.x

By:

Zucconi, G. G.;
Cipriani, S.;
Scattoni, R.;
Balgkouranidou, I.;
Hawkins, D. P.;
Ragnarsdottir, K. V.

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

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 10, p. 2632, doi. 10.1093/brain/awn202

By:

T. E. F. Webb;
M. Poulter;
J. Beck;
J. Uphill;
G. Adamson;
T. Campbell;
J. Linehan;
C. Powell;
S. Brandner;
S. Pal;
D. Siddique;
J. D. Wadsworth;
S. Joiner;
K. Alner;
C. Petersen;
S. Hampson;
C. Rhymes;
C. Treacy;
E. Storey;
M. D. Geschwind

Publication type:

Article

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

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

Prion susceptibility and protective alleles exhibit marked geographic differencesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #628 (2003) Onlinehttp://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

Genetic human prion disease modelled in PrP transgenic Drosophila.

Published in:

Biochemical Journal, 2017, v. 474, n. 19, p. 3253, doi. 10.1042/BCJ20170462

By:

Thackray, Alana M.;
Cardova, Alzbeta;
Wolf, Hanna;
Pradl, Lydia;
Vorberg, Ina;
Jackson, Walker S.;
Bujdoso, Raymond

Publication type:

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

Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report.

Published in:: 2011
Publication type:: Case Study

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

Quantification and visualization of three-dimensional inconsistency of the ventrointermediate nucleus of the thalamus in the Schaltenbrand-Wahren brain atlas.

Published in:

Acta Neurochirurgica, 2008, v. 150, n. 7, p. 647, doi. 10.1007/s00701-007-1419-3

By:

Nowinski, W. L.;
Liu, J.;
Thirunavuukarasuu, A.

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

Prions in dentistry: A need to be concerned and known.

Published in:

Journal of Oral & Maxillofacial Pathology (0973029X), 2016, v. 20, n. 1, p. 111, doi. 10.4103/0973-029X.180961

By:

Sushma, B.;
Gugwad, Sachin;
Pavaskar, Rajdeep;
Malik, Shambhvi A.

Publication type:

Article

Genética de las enfermedades priónicas.

Published in:

Archivos de Neurociencias, 2008, v. 13, n. 4, p. 242

By:

Yescas-Gómez, Petra;
López-López, Marisol;
Franco, José Luis;
Alonso-Vilatela, María Elisa

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

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

The Expanding Universe of Prion Diseases.

Published in:

PLoS Pathogens, 2006, v. 2, n. 3, p. e26, doi. 10.1371/journal.ppat.0020026

By:

Watts, Joel C.;
Balachandran, Aru;
Westaway, David

Publication type:

Article

NMR Structure of the Human Prion Protein with the Pathological Q212P Mutation Reveals Unique Structural Features.

Published in:

PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011715

By:

Ilc, Gregor;
Giachin, Gabriele;
Jaremko, Mariusz;
Jaremko, Lukasz;
Benetti, Federico;
Plavec, Janez;
Zhukov, Igor;
Legname, Giuseppe

Publication type:

Article

UV-Light Exposed Prion Protein Fails to Form Amyloid Fibrils.

Published in:

PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002688

By:

Thakur, Abhay Kumar;
Rao, Ch Mohan

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

Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias.

Published in:

2005

By:

Molinuevo JL;
Pintor L;
Peri JM;
Lleó A;
Oliva R;
Marcos T;
Blesa R

Publication type:

Journal 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

Genetic prion disease-associated myelodysplasia and SIADH in siblings.

Published in:

European Journal of Neurology, 2011, v. 18, n. 12, p. e149, doi. 10.1111/j.1468-1331.2011.03511.x

By:

Chang, F. C. F.;
Berman, Y.;
Buckland, M. E.;
MacKinlay, N.;
McGlade, A.;
Collins, S.;
Ng, K.

Publication type:

Article

Corrigendum: Reconsidering Tonotopic Maps in the Auditory Cortex and Lemniscal Auditory Thalamus in Mice.

Published in:: 2017
Publication type:: Correction Notice

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

Prion: the chameleon protein.

Published in:

Cellular & Molecular Life Sciences, 2007, v. 64, n. 24, p. 3266, doi. 10.1007/s00018-007-7380-8

By:

Zhou, W. Q.;
Gambetti, P.

Publication type:

Article

Illuminating aggregate heterogeneity in neurodegenerative disease.

Published in:

Nature Methods, 2007, v. 4, n. 12, p. 1000, doi. 10.1038/nmeth1207-1000

By:

Jackson, Walker S.;
Lindquist, Susan

Publication type:

Article