المؤلفون: Suzanne Lesage, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Parkinson's disease, SYNJ1, autosomal recessive inheritance, early-onset parkinsonism, atypical Parkinson's disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.648457/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3192991556b54f2d86a73c02e4800b12

المؤلفون: Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Mélanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A, Kuipers, Demy J S, Quadri, Marialuisa, Yves Agid, Mathieu Anheim, Michel Borg, Alexis Brice, Emmanuel Broussolle, Jean-Christophe Corvol, Philippe Damier, Luc Defebvre, Alexandra Dürr, Franck Durif, Jean Luc Houeto, Paul Krack, Stephan Klebe, Suzanne Lesage, Ebba Lohmann, Maria Martinez, Graziella Mangone, Louise-Laure Mariani, Pierre Pollak, Olivier Rascol, François Tison, Christine Tranchant, Marc Vérin, François Viallet, and Marie Vidailhet, Murat Emre, Hasmet Hanagasi, Basar Bilgic, Bedia Marangozoğlu, Mustapha Benmahdjoub, Mohammed Arezki, Sofiane A. Bouchetara, Traki Benhassine, Meriem Tazir, Mouna Ben Djebara, Riadh Gouider, Sawssan Ben Romdhan, Chokri Mhiri, Ahmed Bouhouche, Vincenzo Bonifati, Wim Mandemakers, Anneke J. A. Kievit, Agnita J. W. Boon, Joaquim J. Ferreira, Leonor Correia Guedes, Hasmet A. Hanagasi, Zeynep Tufekcioglu, Bülent Elibol, Okan Doğu, Murat Gultekin, Hsin F. Chien, Egberto Barbosa, Laura Bannach Jardim, Carlos R. M. Rieder, Hsiu-Chen Chang, Chin-Song Lu, Yah-Huei Wu-Chou, Tu-Hsueh Yeh, Leonardo Lopiano, Cristina Tassorelli, Claudio Pacchetti, Cristoforo Comi, Francesco Raudino, Laura Bertolasi, Michele Tinazzi, Alberto Bonizzato, Carlo Ferracci, Roberto Marconi, Marco Guidi, Marco Onofrj, Astrid Thomas, Nicola Vanacore, Giuseppe Meco, Edito Fabrizio, Giovanni Fabbrini, Alfredo Berardelli, Fabrizio Stocchi, Laura Vacca, Paolo Barone, Marina Picillo, Giuseppe De Michele, Chiara Criscuolo, Michele De Mari, Claudia Dell'Aquila, Giovanni Iliceto, Vincenzo Toni, Giorgio Trianni, Valeria Saddi, Gianni Cossu, Maurizio Melis, Corvol, Jean-Christophe, Mhiri, Chokri, Hassan, Bassem A, Breedveld, Guido J, Lesage, Suzanne, Mandemakers, Wim, Brice, Alexis, Bonifati, Vincenzo

المساهمون: Christina, Fevga, Christelle, Tesson, Ana, Carreras Mascaro, Thomas, Courtin, Riaan, van Coller, Salma, Sakka, Federico, Ferraro, Nouha, Farhat, Soraya, Bardien, Mariem, Damak, Jonathan, Carr, Mélanie, Ferrien, Valerie, Boumeester, Jasmijn, Hundscheid, Nicola, Grillenzoni, Irini A, Kessissoglou, Demy J S, Kuiper, Marialuisa, Quadri, Agid, Yve, Anheim, Mathieu, Borg, Michel, Brice, Alexi, Broussolle, Emmanuel, Corvol, Jean-Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Luc Houeto, Jean, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise-Laure, Pollak, Pierre, Rascol, Olivier, Tison, Françoi, Tranchant, Christine, Vérin, Marc, Viallet, Françoi, Marie Vidailhet, And, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Marangozoğlu, Bedia, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Ben Djebara, Mouna, Gouider, Riadh, Ben Romdhan, Sawssan, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J. A., Boon, Agnita J. W., Ferreira, Joaquim J., Correia Guedes, Leonor, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bülent, Doğu, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Bannach Jardim, Laura, Rieder, Carlos R. M., Chang, Hsiu-Chen, Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo

مصطلحات موضوعية: PP2A, PPP2R4, PTPA, intellectual disability, parkinsonism

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36073231; info:eu-repo/semantics/altIdentifier/wos/WOS:000928296000001; volume:146; issue:4; firstpage:1496; lastpage:1510; numberofpages:15; journal:BRAIN; https://hdl.handle.net/11562/1102226; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152396974; https://doi.org/10.1093/brain/awac326

الاتاحة: https://hdl.handle.net/11562/1102226
https://doi.org/10.1093/brain/awac326

المؤلفون: Thomas Courtin, Ahmed Bouhouche, Mouna Ben Djebara, Riadh Gouider, Olga Corti, Mathieu Anheim, Eric Le Guern, Kathy Larcher, Mustapha Benmahdjoub, Meriem Tazir, Christine Tranchant, Ariane Lunati, Hasmet Hanagasi, Chokri Mhiri, Christelle Tesson, Başar Bilgiç, Marie Vidailhet, Fabienne Clot, François Tison, Mohammed Arezki, Graziella Mangone, Sawssan Ben Romdhan, Marion Houot, Ebba Lohmann, Andrew B. Singleton, Emmanuel Roze, Suzanne Lesage, Benjamin Le Toullec, Emmanuel Broussolle, Jean-Christophe Corvol, Alexis Brice, François Viallet, Murat Emre

المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Mohammed V, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Istanbul University, National Institutes of Health [Bethesda] (NIH)

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 88 (4), pp.843-850. ⟨10.1002/ana.25787⟩
Ann Neurol

مصطلحات موضوعية: Male, 0301 basic medicine, Parkinson's disease, genotype-phenotype correlations, DNA Mutational Analysis, Protein Deglycase DJ-1, Disease, 0302 clinical medicine, Child, Aged, 80 and over, education.field_of_study, Parkinsonism, Parkinson Disease, autosomal recessive inheritance, Middle Aged, 3. Good health, Neurology, Cohort, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Ubiquitin-Protein Ligases, Population, Genes, Recessive, PINK1, Article, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Dementia, Genetic Predisposition to Disease, PRKN, education, Aged, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Dysautonomia, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Parkinson’s disease, Neurology (clinical), business, Protein Kinases, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db2a6b777b8501b234a62242808cfe7
https://doi.org/10.1002/ana.25787

المؤلفون: Jean-Christophe Corvol, Andrew B. Singleton, Selma Kesraoui, Graziella Mangone, Hélène Bertrand, Mustapha Benmahdjoub, Alexis Brice, Mohamed Arezki, Suzanne Lesage, Christelle Tesson

المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalo-Universitaire de Blida (CHU Blida), National Institutes of Health [Bethesda] (NIH), Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Frontiers in Neurology
Frontiers in Neurology, Frontiers, 2021, 12, pp.648457. ⟨10.3389/fneur.2021.648457⟩
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology, 2021, 12, pp.648457. ⟨10.3389/fneur.2021.648457⟩

مصطلحات موضوعية: Parkinson's disease, atypical Parkinson's disease, [SDV]Life Sciences [q-bio], PINK1, Disease, medicine.disease_cause, lcsh:RC346-429, SYNJ1, 03 medical and health sciences, 0302 clinical medicine, Medicine, Gene, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, business.industry, Genetic heterogeneity, Parkinsonism, autosomal recessive inheritance, Brief Research Report, medicine.disease, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], Neurology, Neurology (clinical), business, early-onset parkinsonism, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc8611dac08283e0d116b1682a91a4f
http://europepmc.org/articles/PMC8027075

المؤلفون: Mustapha Benmahdjoub, Selma Kesraoui, Sofiane Bouchetara, Abderrezak Bouamra, Mohamed Arezki

المصدر: Revue Neurologique. 178:S14

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9f43ad1441370a5a92e38fa630adb643
https://doi.org/10.1016/j.neurol.2022.02.150

المؤلفون: Suzanne Lesage (324359), Graziella Mangone (2032570), Christelle Tesson (9176456), Hélène Bertrand (663241), Mustapha Benmahdjoub (10430801), Selma Kesraoui (6452225), Mohamed Arezki (10430804), Andrew Singleton (23294), Jean-Christophe Corvol (73149), Alexis Brice (41775)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, Parkinson's disease, SYNJ1, autosomal recessive inheritance, early-onset parkinsonism, atypical Parkinson's disease

Relation: https://figshare.com/articles/dataset/Table_1_Clinical_Variability_of_SYNJ1-Associated_Early-Onset_Parkinsonism_DOCX/14299277

الاتاحة: https://doi.org/10.3389/fneur.2021.648457.s001

المؤلفون: François Tison, Ariane Lunati, Olga Corti, Kathy Larcher, Suzanne Lesage, Thomas Courtin, Andrew Singleton, Meriem Tazir, François Viallet, Ebba Lohmann, Chokri Mhiri, Fabienne Clot, Emmanuel Broussolle, Mohammed Arezki, Jean Christophe Corvol, Mustapha Benmahdjoub, A Brice, Mathieu Anheim, Eric Le Guern, Emmanuel Roze, Ahmed Bouhouche, Graziella Mangone, Benjamin Le Toullec, Marie Vidailhet, Christelle Tesson, Christine Tranchant, Marion Houot, Murat Emre, Sawssan Benromdhan

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Parkinson's disease, medicine.diagnostic_test, business.industry, Parkinsonism, Ethnic origin, Disease, Consanguinity, medicine.disease, medicine, Dementia, Family history, business, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c600f7b97219e4d6ac2db0d30daf177c
https://doi.org/10.2139/ssrn.3409309

المؤلفون: Mustapha Benmahdjoub, Mohamed Arezki

المصدر: Revue Neurologique. 171:A6

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10a08516d5f6fc446ad7625074924c05
https://doi.org/10.1016/j.neurol.2015.01.008