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Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haïk, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr,

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP<sup>Sc</sup>). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):235-246]

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Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure.

Jean-Philippe Brandel, M Bustuchina Vlaicu, Audrey Culeux, Maxime Belondrade, Daisy Bougard, Katarina Grznarova, Angeline Denouel, Isabelle Plu, Elodie Bouaziz-Amar, Danielle Seilhean, Michèle Levasseur, Stéphane Haïk,

N Engl J Med (The New England journal of medicine)
[2020, 383(1):83-85]

Cited: 2 times

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Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study.

J Ihle, F Artaud, S Bekadar, G Mangone, S Sambin, L L Mariani, H Bertrand, O Rascol, F Durif, P Derkinderen, C Scherzer, A Elbaz, J C Corvol, , , Jean-Christophe Corvol, Alexis Elbaz, Marie Vidailhet, Alexis Brice, , Alexis Elbaz, Fanny Artaud, , Frédéric Bourdain, Jean-Philippe Brandel, Jean-Christophe Corvol, Pascal Derkinderen, Franck Durif, Richard Levy, Fernando Pico, Olivier Rascol, , Anne-Marie Bonnet, Cecilia Bonnet, Christine Brefel-Courbon, Florence Cormier-Dequaire, Bertrand Degos, Bérangère Debilly, Alexis Elbaz, Monique Galitsky, David Grabli, Andreas Hartmann, Stephan Klebe, Julia Kraemmer, Lucette Lacomblez, Sara Leder, Graziella Mangone, Louise-Laure Mariani, Ana-Raquel Marques, Valérie Mesnage, Julia Muellner, Fabienne Ory-Magne, Violaine Planté-Bordeneuve, Emmanuel Roze, Melissa Tir, Marie Vidailhet, Hana You, , Eve Benchetrit, Julie Socha, Fanny Pineau, Tiphaine Vidal, Elsa Pomies, Virginie Bayet, , Alexis Brice, Suzanne Lesage, Khadija Tahiri, Hélène Bertrand, Graziella Mangone, , Alain Mallet, Coralie Villeret, Merry Mazmanian, Hakima Manseur, Mostafa Hajji, Benjamin Le Toullec, Vanessa Brochard, Monica Roy, Isabelle Rieu, Stéphane Bernard, Antoine Faurie-Grepon,

OBJECTIVE:To examine the relationship between a Parkinson's disease (PD) polygenic risk score (PRS) and impulse control disorders (ICDs) in PD. BACKGROUND:Genome wide association studies (GWAS) have brought forth a PRS associated with increased risk of PD and younger disease onset. ICDs are frequent adverse effects of dopaminergic drugs and are ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 75:30-33]

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Autoantibodies against the prion protein in individuals with PRNP mutations.

Karl Frontzek, Manfredi Carta, Marco Losa, Mirka Epskamp, Georg Meisl, Alice Anane, Jean-Philippe Brandel, Ulrike Camenisch, Joaquín Castilla, Stéphane Haïk, Tuomas Knowles, Ewald Lindner, Andreas Lutterotti, Eric Vallabh Minikel, Ignazio Roiter, Jiri G Safar, Raquel Sanchez-Valle, Dana Žáková, Simone Hornemann, Adriano Aguzzi, ,

OBJECTIVE:To determine whether naturally occurring autoantibodies against the prion protein are present in individuals with genetic prion disease mutations and controls, and if so, whether they are protective against prion disease. METHODS:In this case-control study, we collected 124 blood samples from individuals with a variety of pathogenic <i>PRNP</i> mutations and ... Read more >>

Neurology (Neurology)
[2020, 95(14):e2028-e2037]

Cited: 1 time

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Factors Influencing the Incubation of an Infectious Form of Creutzfeldt-Jakob Disease.

Laurène Peckeu, Jean-Philippe Brandel, Arlette Welaratne, Elodie Amar, Dominique Costagliola, Stéphane Haïk,

The French epidemics of iatrogenic Creutzfeldt-Jakob disease after growth hormone (GH) treatment provide an opportunity to understand factors governing the inter-human transmission of prions. The present analysis relying on truncated Weibull distribution supports a relationship between host genetics, dose of the at-risk GH, age at treatment onset, and duration of ... Read more >>

Clin Infect Dis (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America)
[2020, 70(7):1487-1490]

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Autoantibodies against the prion protein in individuals with PRNP mutations

Karl Frontzek, Manfredi Carta, Marco Losa, Mirka Epskamp, Georg Meisl, Alice Anane, Jean-Philippe Brandel, Ulrike Camenisch, Joaquín Castilla, Stéphane Haïk, Tuomas Knowles, Ewald Lindner, Andreas Lutterotti, Eric Vallabh Minikel, Ignazio Roiter, Jiri Safar, Raquel Sanchez-Valle, Dana Žáková, Simone Hornemann, Adriano Aguzzi,

<h4>Structured abstract</h4> <h4>Objective</h4> To determine whether naturally occurring autoantibodies against the prion protein are present in individuals with genetic prion disease mutations and controls, and if so, whether they are protective against prion disease. <h4>Methods</h4> In this case-control study, we collected 124 blood samples from individuals with a variety of ... Read more >>

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Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Mathias Schwartz, Jean-Philippe Brandel, Marie Lise Babonneau, Christilla Boucher, Elodie Schaerer, Stephane Haik, Jean Louis Laplanche, Marcela Gargiulo, Alexandra Durr,

Purpose: Presymptomatic testing for susceptibility to genetic prion diseases is often delivered in difficult circumstances, as the index case is often dying when a genetic diagnosis is obtained. Since test requests in these diseases are very rare, the factors underlying decisions of relatives to be tested or not and the ... Read more >>

Front Genet (Frontiers in genetics)
[2019, 10:895]

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Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study.

Pei-Chen Lee, Fanny Artaud, Florence Cormier-Dequaire, Olivier Rascol, Franck Durif, Pascal Derkinderen, Ana-Raquel Marques, Frédéric Bourdain, Jean-Philippe Brandel, Fernando Pico, Lucette Lacomblez, Cecilia Bonnet, Christine Brefel-Courbon, Fabienne Ory-Magne, David Grabli, Stephan Klebe, Graziella Mangone, Hana You, Valérie Mesnage, Alexis Brice, Marie Vidailhet, Jean-Christophe Corvol, Alexis Elbaz, ,

<h4>Background</h4>Whether reserve plays a role in Parkinson's disease (PD) patients has received less attention than in dementia and has been mainly examined in relation with cognitive function.<h4>Objective</h4>To investigate whether reserve plays a role in the severity and progression of motor, cognitive, and nonmotor PD symptoms by examining whether education level ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(11):1663-1671]

Cited: 4 times

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Age at onset in genetic prion disease and the design of preventive clinical trials.

Eric Vallabh Minikel, Sonia M Vallabh, Margaret C Orseth, Jean-Philippe Brandel, Stéphane Haïk, Jean-Louis Laplanche, Inga Zerr, Piero Parchi, Sabina Capellari, Jiri Safar, Janna Kenny, Jamie C Fong, Leonel T Takada, Claudia Ponto, Peter Hermann, Tobias Knipper, Christiane Stehmann, Tetsuyuki Kitamoto, Ryusuke Ae, Tsuyoshi Hamaguchi, Nobuo Sanjo, Tadashi Tsukamoto, Hidehiro Mizusawa, Steven J Collins, Roberto Chiesa, Ignazio Roiter, Jesús de Pedro-Cuesta, Miguel Calero, Michael D Geschwind, Masahito Yamada, Yosikazu Nakamura, Simon Mead,

<h4>Objective</h4>To determine whether preventive trials in genetic prion disease could be designed to follow presymptomatic mutation carriers to onset of disease.<h4>Methods</h4>We assembled age at onset or death data from 1,094 individuals with high penetrance mutations in the prion protein gene (<i>PRNP</i>) in order to generate survival and hazard curves and ... Read more >>

Neurology (Neurology)
[2019, 93(2):e125-e134]

Cited: 6 times

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First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation.

Louis Cousyn, David Grabli, Danielle Seilhean, Carole Azuar, Camille Huiban, Stéphane Epelbaum, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Damien Galanaud, Aurélie Méneret,

Genetic Creutzfeldt-Jakob disease is due to mutations in the PRNP gene. Only two families with a PRNP G114V mutation have been described around the world. We report the first European case, who had no family history and initially presented with isolated deficit in hippocampus-dependent memory. Initial investigations were normal except ... Read more >>

Cortex (Cortex; a journal devoted to the study of the nervous system and behavior)
[2019, 117:407-413]

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Susceptibility to Creutzfeldt-Jakob disease after human growth hormone treatment in France.

Laurène Peckeu, Jean-Philippe Brandel, Arlette Welaratne, Dominique Costagliola, Stéphane Haïk,

<h4>Objective</h4>To identify, among the available data concerning host characteristics and exposure, risk factors influencing the susceptibility for developing iatrogenic Creutzfeldt-Jakob disease (iCJD) in a cohort of patients treated with human cadaver-sourced growth hormone (hGH) in France.<h4>Methods</h4>This study included all 1,443 individuals treated in France with hGH from January 1982 to ... Read more >>

Neurology (Neurology)
[2018, 91(8):e724-e731]

Cited: 0 times

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Age of onset in genetic prion disease and the design of preventive clinical trials

Eric Vallabh Minikel, Sonia Vallabh, Margaret Orseth, Jean-Philippe Brandel, Stéphane Haïk, Jean-Louis Laplanche, Inga Zerr, Piero Parchi, Sabina Capellari, Jiri Safar, Janna Kenny, Jamie Fong, Leonel Takada, Claudia Ponto, Peter Hermann, Tobias Knipper, Christiane Stehmann, Tetsuyuki Kitamoto, Ryusuke Ae, Tsuyoshi Hamaguchi, Nobuo Sanjo, Tadashi Tsukamoto, Hidehiro Mizusawa, Steven Collins, Roberto Chiesa, Ignazio Roiter, Jesús de Pedro-Cuesta, Miguel Calero, Michael Geschwind, Masahito Yamada, Yosikazu Nakamura, Simon Mead,

Regulatory agencies worldwide have adopted programs to facilitate drug development for diseases where the traditional approach of a randomized trial with a clinical endpoint is expected to be prohibitively lengthy or difficult. Here we provide quantitative evidence that this criterion is met for the prevention of genetic prion disease. We ... Read more >>

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Longitudinal analysis of impulse control disorders in Parkinson disease.

Jean-Christophe Corvol, Fanny Artaud, Florence Cormier-Dequaire, Olivier Rascol, Franck Durif, Pascal Derkinderen, Ana-Raquel Marques, Frédéric Bourdain, Jean-Philippe Brandel, Fernando Pico, Lucette Lacomblez, Cecilia Bonnet, Christine Brefel-Courbon, Fabienne Ory-Magne, David Grabli, Stephan Klebe, Graziella Mangone, Hana You, Valérie Mesnage, Pei-Chen Lee, Alexis Brice, Marie Vidailhet, Alexis Elbaz, ,

<h4>Objective</h4>To investigate the longitudinal dose-effect relationship between dopamine replacement therapy and impulse control disorders (ICDs) in Parkinson disease (PD).<h4>Methods</h4>We used data from a multicenter longitudinal cohort of consecutive patients with PD with ≤5 years' disease duration at baseline followed up annually up to 5 years. ICDs were evaluated during face-to-face ... Read more >>

Neurology (Neurology)
[2018, 91(3):e189-e201]

Cited: 36 times

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Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study.

Ignazio Cali, Mark L Cohen, Stephane Haik, Piero Parchi, Giorgio Giaccone, Steven J Collins, Diane Kofskey, Han Wang, Catriona A McLean, Jean-Philippe Brandel, Nicolas Privat, Véronique Sazdovitch, Charles Duyckaerts, Tetsuyuki Kitamoto, Ermias D Belay, Ryan A Maddox, Fabrizio Tagliavini, Maurizio Pocchiari, Ellen Leschek, Brian S Appleby, Jiri G Safar, Lawrence B Schonberger, Pierluigi Gambetti,

The presence of pathology related to the deposition of amyloid-β (Aβ) has been recently reported in iatrogenic Creutzfeldt-Jakob disease (iCJD) acquired from inoculation of growth hormone (GH) extracted from human cadaveric pituitary gland or use of cadaveric dura mater (DM) grafts.To investigate this phenomenon further, a cohort of 27 iCJD ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2018, 6(1):5]

Cited: 30 times

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Neuropathology of iatrogenic Creutzfeldt-Jakob disease and immunoassay of French cadaver-sourced growth hormone batches suggest possible transmission of tauopathy and long incubation periods for the transmission of Abeta pathology.

Charles Duyckaerts, Véronique Sazdovitch, Kunie Ando, Danielle Seilhean, Nicolas Privat, Zehra Yilmaz, Laurène Peckeu, Elodie Amar, Emmanuel Comoy, Aleksandra Maceski, Sylvain Lehmann, Jean-Pierre Brion, Jean-Philippe Brandel, Stéphane Haïk,

Abeta deposits and tau pathology were investigated in 24 French patients that died from iatrogenic Creutzfeldt-Jakob disease after exposure to cadaver-derived human growth hormone (c-hGH) in the 1980s. Abeta deposits were found only in one case that had experienced one of the longest incubation periods. Three cases had also intracellular ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2018, 135(2):201-212]

Cited: 25 times

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Variant Creutzfeldt-Jakob disease.

Jean-Philippe Brandel, Richard Knight,

Variant CJD (vCJD) was described first in the United Kingdom in 1996. It is a zoonotic form of human prion disease, originating from dietary contamination of human food with material from bovine spongiform encephalopathy (BSE)-affected cattle. It has important epidemiologic, clinical, and neuropathogic differences from other forms of human prion ... Read more >>

Handb Clin Neurol (Handbook of clinical neurology)
[2018, 153:191-205]

Cited: 2 times

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Accuracy of diagnosis criteria in patients with suspected diagnosis of sporadic Creutzfeldt-Jakob disease and detection of 14-3-3 protein, France, 1992 to 2009.

Laurene Peckeu, Nicole Delasnerie-Lauprètre, Jean-Philippe Brandel, Dominique Salomon, Véronique Sazdovitch, Jean-Louis Laplanche, Charles Duyckaerts, Danielle Seilhean, Stéphane Haïk, Jean-Jacques Hauw,

Diagnostic criteria of Creutzfeldt-Jakob disease (CJD), a rare and fatal transmissible nervous system disease with public health implications, are determined by clinical data, electroencephalogram (EEG), detection of 14-3-3 protein in cerebrospinal fluid (CSF), brain magnetic resonance imaging and prion protein gene examination. The specificity of protein 14-3-3 has been questioned. ... Read more >>

Euro Surveill (Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin)
[2017, 22(41):]

Cited: 5 times

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Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.

Ganqiang Liu, Joseph J Locascio, Jean-Christophe Corvol, Brendon Boot, Zhixiang Liao, Kara Page, Daly Franco, Kyle Burke, Iris E Jansen, Ana Trisini-Lipsanopoulos, Sophie Winder-Rhodes, Caroline M Tanner, Anthony E Lang, Shirley Eberly, Alexis Elbaz, Alexis Brice, Graziella Mangone, Bernard Ravina, Ira Shoulson, Florence Cormier-Dequaire, Peter Heutink, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Johan Marinus, Clemens R Scherzer, , , , , , , ,

<h4>Background</h4>Cognitive decline is a debilitating manifestation of disease progression in Parkinson's disease. We aimed to develop a clinical-genetic score to predict global cognitive impairment in patients with the disease.<h4>Methods</h4>In this longitudinal analysis, we built a prediction algorithm for global cognitive impairment (defined as Mini Mental State Examination [MMSE] ≤25) using ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2017, 16(8):620-629]

Cited: 38 times

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Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease.

Daisy Bougard, Jean-Philippe Brandel, Maxime Bélondrade, Vincent Béringue, Christiane Segarra, Hervé Fleury, Jean-Louis Laplanche, Charly Mayran, Simon Nicot, Alison Green, Arlette Welaratne, David Narbey, Chantal Fournier-Wirth, Richard Knight, Robert Will, Pierre Tiberghien, Stéphane Haïk, Joliette Coste,

Variant Creutzfeldt-Jakob disease (vCJD) is a human prion disease resulting from the consumption of meat products contaminated by the agent causing bovine spongiform encephalopathy. Evidence supporting the presence of a population of silent carriers that can potentially transmit the disease through blood transfusion is increasing. The development of a blood-screening ... Read more >>

Sci Transl Med (Science translational medicine)
[2016, 8(370):370ra182]

Cited: 37 times

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Case report of Lewy body disease mimicking Creutzfeldt-Jakob disease in a 44-year-old man.

Laure Saint-Aubert, Jérémie Pariente, Herve Dumas, Pierre Payoux, Jean-Philippe Brandel, Michèle Puel, Anne Vital, Eric Guedj, Suzanne Lesage, Katell Peoc'h, Christine Brefel Courbon, Fabienne Ory Magne,

<h4>Background</h4>Few patients are reported with dementia with Lewy bodies before fifty years-old, which may partly reflect the difficulty of accurate diagnosis in young population. We report the case of a 44-year-old male with pathologically confirmed sporadic dementia with Lewy bodies, who did not fulfil the revised clinical criteria for this ... Read more >>

BMC Neurol (BMC neurology)
[2016, 16:122]

Cited: 1 time

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Quantifying prion disease penetrance using large population control cohorts.

Eric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, Karol Estrada, Kaitlin E Samocha, J Fah Sathirapongsasuti, Cory Y McLean, Joyce Y Tung, Linda P C Yu, Pierluigi Gambetti, Janis Blevins, Shulin Zhang, Yvonne Cohen, Wei Chen, Masahito Yamada, Tsuyoshi Hamaguchi, Nobuo Sanjo, Hidehiro Mizusawa, Yosikazu Nakamura, Tetsuyuki Kitamoto, Steven J Collins, Alison Boyd, Robert G Will, Richard Knight, Claudia Ponto, Inga Zerr, Theo F J Kraus, Sabina Eigenbrod, Armin Giese, Miguel Calero, Jesús de Pedro-Cuesta, Stéphane Haïk, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Sabina Capellari, Piero Parchi, Anna Poleggi, Anna Ladogana, Anne H O'Donnell-Luria, Konrad J Karczewski, Jamie L Marshall, Michael Boehnke, Markku Laakso, Karen L Mohlke, Anna Kähler, Kimberly Chambert, Steven McCarroll, Patrick F Sullivan, Christina M Hultman, Shaun M Purcell, Pamela Sklar, Sven J van der Lee, Annemieke Rozemuller, Casper Jansen, Albert Hofman, Robert Kraaij, Jeroen G J van Rooij, M Arfan Ikram, André G Uitterlinden, Cornelia M van Duijn, , Mark J Daly, Daniel G MacArthur,

More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease ... Read more >>

Sci Transl Med (Science translational medicine)
[2016, 8(322):322ra9]

Cited: 93 times

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Does HIV Infection Alter Parkinson Disease?

Antoine Moulignier, Antoine Gueguen, François-Xavier Lescure, Marc Ziegler, Pierre-Marie Girard, Bernard Cardon, Gilles Pialoux, Jean-Michel Molina, Jean-Philippe Brandel, Cédric Lamirel,

<h4>Objective</h4>To describe the clinical features, treatment(s), and outcomes of 15 HIV-infected patients with idiopathic Parkinson disease (PD) and sustained virus suppression and immunologic reconstitution, from a reference cohort of 9847 persons living with HIV (PLH).<h4>Methods</h4>This retrospective, single-center matched case-control 1:2 study included PLH-PD patients evaluated over a 12-year period (2002-2013) ... Read more >>

J Acquir Immune Defic Syndr (Journal of acquired immune deficiency syndromes (1999))
[2015, 70(2):129-136]

Cited: 5 times

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Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial.

Stéphane Haïk, Gabriella Marcon, Alain Mallet, Mauro Tettamanti, Arlette Welaratne, Giorgio Giaccone, Shohreh Azimi, Vladimiro Pietrini, Jean-Roch Fabreguettes, Daniele Imperiale, Pierre Cesaro, Carlo Buffa, Christophe Aucan, Ugo Lucca, Laurène Peckeu, Silvia Suardi, Christine Tranchant, Inga Zerr, Caroline Houillier, Veronica Redaelli, Hervé Vespignani, Angela Campanella, François Sellal, Anna Krasnianski, Danielle Seilhean, Uta Heinemann, Frédéric Sedel, Mara Canovi, Marco Gobbi, Giuseppe Di Fede, Jean-Louis Laplanche, Maurizio Pocchiari, Mario Salmona, Gianluigi Forloni, Jean-Philippe Brandel, Fabrizio Tagliavini,

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a fatal, untreatable prion encephalopathy. Previous studies showed that doxycycline is effective in in-vitro and in-vivo models of disease, and patients with CJD who received compassionate treatment with doxycycline showed increased survival time compared with historical series. We therefore did a randomised, double-blind study of ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2014, 13(2):150-158]

Cited: 60 times

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Infectious prion diseases in humans: cannibalism, iatrogenicity and zoonoses.

Stéphane Haïk, Jean-Philippe Brandel,

In contrast with other neurodegenerative disorders associated to protein misfolding, human prion diseases include infectious forms (also called transmitted forms) such as kuru, iatrogenic Creutzfeldt-Jakob disease and variant Creutzfeldt-Jakob disease. The transmissible agent is thought to be solely composed of the abnormal isoform (PrP(Sc)) of the host-encoded prion protein that ... Read more >>

Infect Genet Evol (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases)
[2014, 26:303-312]

Cited: 15 times

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A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.

Pascual Sanchez-Juan, Matthew T Bishop, Gabor G Kovacs, Miguel Calero, Yurii S Aulchenko, Anna Ladogana, Alison Boyd, Victoria Lewis, Claudia Ponto, Olga Calero, Anna Poleggi, Ángel Carracedo, Sven J van der Lee, Thomas Ströbel, Fernando Rivadeneira, Albert Hofman, Stéphane Haïk, Onofre Combarros, José Berciano, Andre G Uitterlinden, Steven J Collins, Herbert Budka, Jean-Philippe Brandel, Jean Louis Laplanche, Maurizio Pocchiari, Inga Zerr, Richard S G Knight, Robert G Will, Cornelia M van Duijn,

We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we ... Read more >>

PLoS One (PloS one)
[2014, 10(4):e0123654]

Cited: 10 times

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