المؤلفون: Liu, Ganqiang, Boot, Brendon, Cormier-Dequaire, Florence, Corvol, Jean-Christophe, Barker, Roger A, Heutink, Peter, Marinus, Johan, Williams-Gray, Caroline H, Scherzer, Clemens R, Progression, International Genetics of Parkinson Disease, Scherzer, C., Hyman, B. T., Locascio, Joseph J, Ivinson, A. J., Trisini-Lipsanopoulos, A., Franco, D., Burke, K., Sudarsky, L. R., Hayes, M. T., Umeh, C. C., Growdon, J. H., Schwarzschild, M. A., Hung, A. Y., Jansen, Iris E, Flaherty, A. W., Wills, A-M, Mejia, N. I., Gomperts, S. N., Khurana, V., Selkoe, D. J., Yi, T., Page, K., Liao, Z., Barker, R., Winder-Rhodes, Sophie, Foltynie, T., Williams-Gray, C. H., Mason, S., Winder-Rhodes, S., Breen, D., Cummins, G., Evans, J., Eberly, Shirley, Corvol, J-C, Brice, A., Elbaz, A., Mallet, A., Vidailhet, M., Bonnet, A-M, Bonnet, C., Grabli, D., Hartmann, A., Klebe, S., Elbaz, Alexis, Lacomblez, L., Mangone, G., Bourdain, F., Brandel, J-P, Derkinderen, P., Durif, F., Mesnage, V., Pico, F., Rascol, O., Forlani, S., Brice, Alexis, Lesage, S., Tahiri, K., van Hilten, J. J., Marinus, J., Duong, K., Ravina, Bernard, Dong, X., Hutten, S. J., Amr, S. S., Shoulson, I., Tanner, C. M., Lang, A. E., Nalls, M. A., van Hilten, Jacobus J

المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-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), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), 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)

المصدر: Annals of Neurology, 80(5), 674-685. John Wiley and Sons Inc.
Annals of Neurology
Annals of Neurology, Wiley, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Liu, G, Boot, B, Locascio, J J, Jansen, I E, Winder-Rhodes, S, Eberly, S, Elbaz, A, Brice, A, Ravina, B, van Hilten, J J, Cormier-Dequaire, F, Corvol, J C, Barker, R A, Heutink, P, Marinus, J, Williams-Gray, C H, Scherzer, C R, Scherzer, C, Hyman, B T, Ivinson, A J, Trisini-Lipsanopoulos, A, Franco, D, Burke, K, Sudarsky, L R, Hayes, M T, Umeh, C C, Growdon, J H, Schwarzschild, M A, Hung, A Y, Flaherty, A W, Wills, A M, Mejia, N I, Gomperts, S N, Khurana, V, Selkoe, D J, Yi, T, Page, K, Liao, Z, Barker, R, Foltynie, T, Williams-Gray, C H, Mason, S, Winder-Rhodes, S, Barker, R, Williams-Gray, C H, Breen, D, Cummins, G, Evans, J, Winder-Rhodes, S, Corvol, J C, Brice, A, Elbaz, A, Mallet, A, Vidailhet, M, Bonnet, A M, Bonnet, C, Grabli, D, Hartmann, A, Klebe, S, Lacomblez, L, Mangone, G, Bourdain, F, Brandel, J P, Derkinderen, P, Durif, F, Mesnage, V, Pico, F, Rascol, O, Forlani, S, Lesage, S, Tahiri, K, van Hilten, J J, Marinus, J, Liao, Z, Page, K, Franco, D, Duong, K, Yi, T, Trisini-Lipsanopoulos, A, Dong, X, Sudarsky, L R, Hutten, S J, Amr, S S, Shoulson, I, Tanner, C M, Lang, A E & Nalls, M A 2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781
Annals of neurology 80(5), 674-685 (2016). doi:10.1002/ana.24781
Annals of Neurology, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Annals of Neurology, 80(5), 674-685
2016, ' Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's ', Annals of Neurology, vol. 80, no. 5, pp. 674-685 . https://doi.org/10.1002/ana.24781

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, medicine.medical_specialty, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Disease, medicine.disease_cause, genetics [Glucosylceramidase], etiology [Cognitive Dysfunction], 03 medical and health sciences, 0302 clinical medicine, Parkinson Disease/complications, genetics [Parkinson Disease], Internal medicine, Genetic variation, medicine, Humans, Cognitive Dysfunction/etiology, ddc:610, Longitudinal Studies, Cognitive decline, Allele, ComputingMilieux_MISCELLANEOUS, Aged, Aged, 80 and over, Genetics, genetics [Gaucher Disease], Mutation, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, Proportional hazards model, [SCCO.NEUR]Cognitive science/Neuroscience, Hazard ratio, genetics [Cognitive Dysfunction], [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Middle Aged, Confidence interval, 3. Good health, 030104 developmental biology, Neurology, Glucosylceramidase/genetics, Disease Progression, Glucosylceramidase, Female, Neurology (clinical), complications [Gaucher Disease], complications [Parkinson Disease], Gaucher Disease/complications, Psychology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698967e53ffd75c50c47b468f7475410
https://research.vumc.nl/en/publications/a5e19353-57a9-43e9-98a2-1aafe03548fb

المؤلفون: Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M. C., Caillaud, C., Kaabachi, N., Tebib, N., Abdelhak, S., Ben Dridi, M. F.

المساهمون: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Hôpital La Rabta [Tunis], Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST), Université de Tunis El Manar (UTM), Hôpital Universitaire Sahloul (CHU Sahloul), Département de neurobiologie génétique [Porto, Portugal], Universidade do Porto-Instituto de Biologia Molecular e Celular (IBMC), Laboratoire de génétique métabolique, Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Faculté des Sciences de Tunis, Université de Tunis [Tunis], Universidade do Porto [Porto]-Instituto de Biologia Molecular e Celular (IBMC), Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

المصدر: Pathologie Biologie
Pathologie Biologie, Elsevier Masson, 2012, 61 (2), pp.59-63. ⟨10.1016/j.patbio.2012.03.006⟩

مصطلحات موضوعية: Male, Tunisian population, DNA Mutational Analysis, MESH: Glucosylceramidase/genetics, Maladie de Gaucher, Population tunisienne, MESH: Polymorphism, Restriction Fragment Length/physiology, Gaucher disease, MESH: Tunisia/epidemiology, Polymerase Chain Reaction, MESH: Genotype, MESH: Child, Age of Onset, Child, Afrique du Nord, MESH: Middle Aged, MESH: Infant, Newborn, MESH: Genetic Predisposition to Disease, Middle Aged, MESH: Infant, MESH: DNA Mutational Analysis/methods, MESH: Polymerase Chain Reaction/methods, Molecular Diagnostic Techniques, MESH: Young Adult, Child, Preschool, Diagnostic moléculaire, Glucosylceramidase, Female, Gène GBA, Molecular diagnosis, Polymorphism, Restriction Fragment Length, Adult, Tunisia, Adolescent, Genotype, MESH: Age of Onset, Young Adult, MESH: Gaucher Disease/epidemiology, MESH: Gaucher Disease/diagnosis, MESH: Gaucher Disease/genetics, Humans, Genetic Predisposition to Disease, MESH: Molecular Diagnostic Techniques, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, GBA gene, MESH: Child, Preschool, Infant, Newborn, Infant, MESH: Adult, North Africa, MESH: Male, MESH: Gaucher Disease/complications, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cb8ef75ee745f2f2e1af0efa0db69316
https://hal-riip.archives-ouvertes.fr/pasteur-00733195

المصدر: Clinical nuclear medicine, 26 (9

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adult, Bone Marrow -- radionuclide imaging, Bone and Bones -- radionuclide imaging, Femur -- radionuclide imaging, Gaucher Disease -- complications, Gaucher Disease -- pathology, Gaucher Disease -- radionuclide imaging, Humans, Ilium -- pathology, Ilium -- radionuclide imaging, Low Back Pain -- etiology, Lumbar Vertebrae -- pathology, Lumbar Vertebrae -- radionuclide imaging, Magnetic Resonance Imaging, Male, Osteonecrosis -- complications, Osteonecrosis -- radionuclide imaging, Radiopharmaceuticals -- diagnostic use, Sacrum -- pathology, Sacrum -- radionuclide imaging, Technetium Tc 99m Medronate -- diagnostic use, Technetium Tc 99m Sestamibi -- diagnostic use, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53212
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المصدر: Clinical nuclear medicine, 26 (9

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adult, Bone Marrow -- radionuclide imaging, Bone and Bones -- radionuclide imaging, Femur -- radionuclide imaging, Gaucher Disease -- complications, Gaucher Disease -- pathology, Gaucher Disease -- radionuclide imaging, Humans, Ilium -- pathology, Ilium -- radionuclide imaging, Low Back Pain -- etiology, Lumbar Vertebrae -- pathology, Lumbar Vertebrae -- radionuclide imaging, Magnetic Resonance Imaging, Male, Osteonecrosis -- complications, Osteonecrosis -- radionuclide imaging, Radiopharmaceuticals -- diagnostic use, Sacrum -- pathology, Sacrum -- radionuclide imaging, Technetium Tc 99m Medronate -- diagnostic use, Technetium Tc 99m Sestamibi -- diagnostic use, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53212
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL