Works matching DE "GERSTMANN-Straussler-Scheinker disease"

Results: 36

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 6, p. 777, doi. 10.1002/acn3.568

By:

Capellari, Sabina;
Baiardi, Simone;
Rinaldi, Rita;
Bartoletti‐Stella, Anna;
Graziano, Claudio;
Piras, Silvia;
Calandra‐Buonaura, Giovanna;
D'Angelo, Roberto;
Terziotti, Camilla;
Lodi, Raffaele;
Donadio, Vincenzo;
Pironi, Loris;
Cortelli, Pietro;
Parchi, Piero

Publication type:

Article

A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Staräfusser-Schreiber syndrome with P102L mutation in PRNP gene.

Published in:

Neurosciences, 2017, v. 22, n. 2, p. 138, doi. 10.17712/nsj.2017.2.20160522

By:

Ling Long;
Xiaodong Cai;
Yaqing Shu;
Zhengqi Lu

Publication type:

Article

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease.

Published in:

European Journal of Neurology, 2011, v. 18, n. 12, p. e152, doi. 10.1111/j.1468-1331.2011.03531.x

By:

Kojović, M.;
Glavač, D.;
Ožek, B.;
Zupan, A.;
Popović, M.

Publication type:

Article

Gerstmann- Sträussler- Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP- P102L Mutation.

Published in:

Brain Pathology, 2014, v. 24, n. 2, p. 142, doi. 10.1111/bpa.12083

By:

Riudavets, Miguel A.;
Sraka, María Alejandra;
Schultz, Marcelo;
Rojas, Estefanía;
Martinetto, Horacio;
Begué, Christian;
Halac, Inés Noher;
Poleggi, Anna;
Equestre, Michele;
Pocchiari, Maurizio;
Sevlever, Gustavo;
Taratuto, Ana Lía

Publication type:

Article

Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.

Published in:

PLoS Pathogens, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.ppat.1004953

By:

Asante, Emmanuel A.;
Grimshaw, Andrew;
Smidak, Michelle;
Jakubcova, Tatiana;
Tomlinson, Andrew;
Jeelani, Asif;
Hamdan, Shyma;
Powell, Caroline;
Joiner, Susan;
Linehan, Jacqueline M.;
Brandner, Sebastian;
Wadsworth, Jonathan D. F.;
Collinge, John

Publication type:

Article

Small Ruminant Nor98 Prions Share Biochemical Features with Human Gerstmann-Sträussler-Scheinker Disease and Variably Protease-Sensitive Prionopathy.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066405

By:

Pirisinu, Laura;
Nonno, Romolo;
Esposito, Elena;
Benestad, Sylvie L.;
Gambetti, Pierluigi;
Agrimi, Umberto;
Zou, Wen-Quan

Publication type:

Article

A connectivity model of the anatomic substrates underlying Gerstmann syndrome.

Published in:

Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac140

By:

Shahab, Qazi S.;
Young, Isabella M.;
Dadario, Nicholas B.;
Tanglay, Onur;
Nicholas, Peter J.;
Yueh-Hsin Lin;
Fonseka, R. Dineth;
Yeung, Jacky T.;
Bai, Michael Y.;
Teo, Charles;
Doyen, Stephane;
Sughrue, Michael E.

Publication type:

Article

Acute parietal lobe infarction presentingas Gerstmann's syndrome and cognitivedecline mimicking senile dementia.

Published in:

2013

By:

Tien-Yu Chen;
Chun-Yen Chen;
Che-Hung Yen;
Shin-Chang Kuo;
Yi-Wei Yeh;
Serena Chang;
San-Yuan Huang

Publication type:

Case Study

Isolation of infectious, non-fibrillar and oligomeric prions from a genetic prion disease.

Published in:

2020

By:

Vanni, Ilaria;
Pirisinu, Laura;
Acevedo-Morantes, Claudia;
Kamali-Jamil, Razieh;
Rathod, Vineet;
Bari, Michele Angelo Di;
D'Agostino, Claudia;
Marcon, Stefano;
Esposito, Elena;
Riccardi, Geraldina;
Hornemann, Simone;
Senatore, Assunta;
Aguzzi, Adriano;
Agrimi, Umberto;
Wille, Holger;
Nonno, Romolo;
Di Bari, Michele Angelo

Publication type:

journal article

Rapamycin Delays Disease Onset and Prevents PrP Plaque Deposition in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 36, p. 12396, doi. 10.1523/JNEUROSCI.6189-11.2012

By:

Cortes, Constanza J.;
Kefeng Qin;
Cook, Julie;
Solanki, Ani;
Mastrianni, James A.

Publication type:

Article

Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.

Published in:

2019

By:

Tesar, Adam;
Matej, Radoslav;
Kukal, Jaromir;
Johanidesova, Silvie;
Rektorova, Irena;
Vyhnalek, Martin;
Keller, Jiri;
Eliasova, Ilona;
Parobkova, Eva;
Smetakova, Magdalena;
Musova, Zuzana;
Rusina, Robert

Publication type:

journal 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

A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann's syndrome.

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-68

By:

Gnanapavan, Sharmilee;
Jaunmuktane, Zane;
Baruteau, Kelly Pegoretti;
Gnanasambandam, Sakthivel;
Schmierer, Klaus

Publication type:

Article

Gerstmann Syndrome Case-Control Study: Correlation between Brain Lesions & Functional Disability.

Published in:

International Tinnitus Journal, 2023, v. 27, n. 2, p. 247, doi. 10.5935/0946-5448.20230038

By:

Salih Al-Samaraie, Abdulnaser Abdulqader

Publication type:

Article

A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.

Published in:

PLoS Pathogens, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.ppat.1006826

By:

Mercer, Robert C. C.;
Daude, Nathalie;
Dorosh, Lyudmyla;
Fu, Ze-Lin;
Mays, Charles E.;
Gapeshina, Hristina;
Wohlgemuth, Serene L.;
Acevedo-Morantes, Claudia Y.;
Yang, Jing;
Cashman, Neil R.;
Coulthart, Michael B.;
Pearson, Dawn M.;
Joseph, Jeffrey T.;
Wille, Holger;
Safar, Jiri G.;
Jansen, Gerard H.;
Stepanova, Maria;
Sykes, Brian D.;
Westaway, David

Publication type:

Article

An autopsy report of three kindred in a Gerstmann–Sträussler–Scheinker disease P105L family with a special reference to prion protein, tau, and beta‐amyloid.

Published in:

Brain & Behavior, 2018, v. 8, n. 10, p. N.PAG, doi. 10.1002/brb3.1117

By:

Ishizawa, Keisuke;
Mitsufuji, Takashi;
Shioda, Kei;
Kobayashi, Atsushi;
Komori, Takashi;
Nakazato, Yoshihiko;
Kitamoto, Tetsuyuki;
Araki, Nobuo;
Yamamoto, Toshimasa;
Sasaki, Atsushi

Publication type:

Article

Cognitive world: Neuropsychology of individual differences.

Published in:

2018

By:

Ardila, Alfredo;
Rosselli, Monica

Publication type:

journal article

Localization of A11-reactive oligomeric species in prion diseases.

Published in:

Histopathology, 2013, v. 62, n. 7, p. 994, doi. 10.1111/his.12097

By:

Aidt, Frederik H;
Hasholt, Lis F;
Christiansen, Michael;
Laursen, Henning

Publication type:

Article

Active conversion to the prion state as a molecular switch for cellular adaptation to environmental stress.

Published in:

BioEssays, 2013, v. 35, n. 1, p. 12, doi. 10.1002/bies.201200121

By:

Suzuki, Genjiro;
Tanaka, Motomasa

Publication type:

Article

Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy.

Published in:

European Journal of Neurology, 2017, v. 24, n. 12, p. e87, doi. 10.1111/ene.13447

By:

Mumoli, L.;
Labate, A.;
Gambardella, A.

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

Divergent clinical and neuropathological phenotype in a Gerstmann- Sträussler- Scheinker P102 L family.

Published in:

Acta Neurologica Scandinavica, 2012, v. 126, n. 5, p. 315, doi. 10.1111/j.1600-0404.2011.01628.x

By:

Popova, S. N.;
Tarvainen, I.;
Capellari, S.;
Parchi, P.;
Hannikainen, P.;
Pirinen, E.;
Haapasalo, H.;
Alafuzoff, I.

Publication type:

Article

GERSTMANN SYNDROME IN A YOUNG MAN: A CASE REPORT.

Published in:

Trakia Journal of Sciences, 2018, v. 16, n. 3, p. 239, doi. 10.15547/tjs.2018.03.011

By:

Dimitrov, Iv.;
Atanasova, S.;
Kaprelyan, A.;
Ivanov, B.;
Nestorova, V.;
Drenska, K.;
Chuperkova, Zh.;
Aleksandrov, Iv.

Publication type:

Article

Health hazards at autopsy - A review article.

Published in:

International Archives of Integrated Medicine, 2015, v. 2, n. 8, p. 130

By:

Chhillar, Dinesh;
Dhattarwal, S. K.;
Kataria, Usha

Publication type:

Article

Attempted and successful compensation in preclinical and early manifest neurodegeneration -- a review of task fMRI studies.

Published in:

Frontiers in Psychiatry, 2014, v. 5, p. 1, doi. 10.3389/fpsyt.2014.00132

By:

Scheller, Elisa;
Minkova, Lora;
Leitner, Mathias;
Klöppel, Stefan;
Oedekoven, Christiane Sophie Helene;
Wersching, Heike

Publication type:

Article

Adult rat myelin enhances axonal outgrowth from neural stem cells.

Published in:

Science Translational Medicine, 2018, v. 10, n. 442, p. 1, doi. 10.1126/scitranslmed.aal2563

By:

Poplawski, Gunnar H. D.;
Lie, Richard;
Hunt, Matt;
Kumamaru, Hiromi;
Kawaguchi, Riki;
Lu, Paul;
Schäfer, Michael K. E.;
Woodruff, Grace;
Robinson, Jacob;
Canete, Philip;
Dulin, Jennifer N.;
Geoffroy, Cedric G.;
Menzel, Lutz;
Zheng, Binhai;
Coppola, Giovanni;
Tuszynski, Mark H.

Publication type:

Article

A Proposed Reinterpretation of Gerstmann's Syndrome.

Published in:

Archives of Clinical Neuropsychology, 2014, v. 29, n. 8, p. 828, doi. 10.1093/arclin/acu056

By:

Ardila, Alfredo

Publication type:

Article

Ilya Mark Scheinker: Controversial Neuroscientist and Refugee From National Socialist Europe.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 2, p. 334, doi. 10.1017/cjn.2015.359

By:

Zeidman, Lawrence A.;
Ziller, Matthias Georg;
Shevell, Michael

Publication type:

Article

“With a Smile Through Tears”: The Uprooted Career of the Man Behind Gerstmann Syndrome.

Published in:

Journal of the History of the Neurosciences, 2015, v. 24, n. 2, p. 148, doi. 10.1080/0964704X.2014.950089

By:

Zeidman, Lawrence A.;
Ziller, Matthias Georg;
Shevell, Michael

Publication type:

Article

Gerstmann-Sträussler-Scheinker Disease Presenting with Atypical Parkinsonism, but Typical Magnetic Resonance Imaging Findings of Prion Disease.

Published in:

Movement Disorders Clinical Practice, 2016, v. 3, n. 1, p. 93, doi. 10.1002/mdc3.12228

By:

Ribosa‐Nogué, Roser;
Pagonabarraga, Javier;
Gomez‐Anson, Beatriz;
Granell‐Moreno, Esther;
Sánchez‐Valle, Raquel;
Kulisevsky, Jaime

Publication type:

Article

Prions, prion-like prionoids, and neurodegenerative disorders.

Published in:

Annals of Indian Academy of Neurology, 2016, v. 19, n. 2, p. 169, doi. 10.4103/0972-2327.179979

By:

Verma, Ashok

Publication type:

Article

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Published in:

2016

By:

Tonduti, Davide;
Ardissone, Anna;
Ceccherini, Isabella;
Giaccone, Giorgio;
Farina, Laura;
Moroni, Isabella

Publication type:

journal article

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [<sup>18</sup>F]Flortaucipir PET.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0608-z

By:

Risacher, Shannon L.;
Farlow, Martin R.;
Bateman, Daniel R.;
Epperson, Francine;
Tallman, Eileen F.;
Richardson, Rose;
Murrell, Jill R.;
Unverzagt, Frederick W.;
Apostolova, Liana G.;
Bonnin, Jose M.;
Ghetti, Bernardino;
Saykin, Andrew J.

Publication type:

Article

Poster 384: Cross Conduction Aphasia with Signs of Gerstmann Syndrome: A Case Report.

Published in:

2009

By:

Nwachuku, Adaku U.;
Chantasi, Kenny;
Cruz, Ricardo;
Mathew, Celine;
Mathew, Jose;
Popalzai, Adeel;
Schaefer, Lynn;
Weiss, Lyn

Publication type:

Abstract

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

Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature.

Published in:

Neurocase (Taylor & Francis Ltd), 2013, v. 19, n. 1, p. 41, doi. 10.1080/13554794.2011.654215

By:

Rusina, Robert;
Fiala, Jindřich;
Holada, Karel;
Matějčková, Milada;
Nováková, Jana;
Ampapa, Radek;
Koukolík, František;
Matěj, Radoslav

Publication type:

Article