المؤلفون: Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: primary lateral sclerosis, progressive spastic paraparesis, Alzheimer’s disease, PSEN1 mutation, motor neuron disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.721047/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/fe4c71d0a774413c9e22a650a5cb7776

المؤلفون: Shouzi Zhang, Xiang Li, Li Zhang, Xiangyan Meng, Li Ma, Guangze Zhang, Haiyan Wu, Ling Liang, Meng Cao, Fan Mei

المصدر: Frontiers in Psychiatry, Vol 11 (2020)

مصطلحات موضوعية: Alzheimer’s disease, behavioral disturbance, PSEN1 mutation, whole genome sequencing, rare coding variants, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/d71cee9749524e8fb923ec1076d443a7

المؤلفون: Kaloyan R. Stoychev, Maya Stoimenova-Popova, Petranka Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova

المصدر: Frontiers in Psychiatry, Vol 10 (2019)

مصطلحات موضوعية: phenotypic heterogeneity, whole exome sequencing, PSEN1 mutation, genetic inheritance, early onset Alzheimer’s disease (EOAD), Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fpsyt.2019.00857/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/b68d4d756aba462fba97f80d89302e0e

المؤلفون: Bagyinszky E, Park SA, Kim HJ, Choi SH, An SSA, Kim SY

المصدر: Clinical Interventions in Aging, Vol Volume 11, Pp 1433-1440 (2016)

مصطلحات موضوعية: Alzheimer’s disease, PSEN1 mutation, sequencing, frontotemporal dementia, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://www.dovepress.com/psen1-l226f-mutation-in-a-patient-with-early-onset-alzheimerrsquos-dis-peer-reviewed-article-CIA; https://doaj.org/toc/1178-1998

URL الوصول: https://doaj.org/article/34706bb5ee654c7399841ad8188ae70c

المؤلفون: Goate, Alison M.^{Aff31, Aff32}, Pastor, Pau^Aff31, Roe, Catherine M.^Aff33, Norton, Joanne^Aff31, Chakraverty, Sumi^Aff31, Lopera, Francisco^Aff34, Kosik, Kenneth S.^Aff35

المساهمون: Christen, Yves, editor^{Aff1, Aff30}, Agid, Yves, editor^Aff2, Aguayo, Albert, editor^Aff3, Anderton, Brian H., editor^Aff4, Bartus, Raymond T., editor^Aff5, Björklund, Anders, editor^Aff6, Bloom, Floyd, editor^Aff7, Boller, François, editor^Aff8, Cotman, Carl, editor^Aff9, Davies, Peter, editor^Aff10, Delacourte, André, editor^Aff11, Ferris, Steven, editor^Aff12, Foncin, Jean-François, editor^Aff2, Forette, Françoise, editor^Aff13, Gage, Fred, editor^Aff14, Goldgaber, Dmitry, editor^Aff15, Hardy, John, editor^{Aff16, Aff29}, Hauw, Jean-Jacques, editor^Aff2, Kordon, Claude, editor^Aff17, Kosik, Kenneth S., editor^Aff18, Mallet, Jacques, editor^Aff2, Masters, Colin L., editor^Aff19, Rapoport, Stanley I., editor^Aff20, Reisberg, Barry, editor^Aff12, Roses, Allen, editor^Aff21, Selkoe, Dennis J., editor^Aff18, Shelanski, Michael L., editor^Aff22, Sinet, Pierre-Marie, editor^Aff23, George-Hyslop, Peter St., editor^Aff24, Terry, Robert, editor^Aff25, Zarifian, Edouard, editor^Aff26, Cummings, Jeffrey L., editor^Aff27, Poncet, Michel, editor^Aff28

المصدر: Genotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases. :61-71

Degree: M.D.
Ph.D.

المؤلفون: Bertram, Lars^Aff3

المساهمون: Sisodia, Sangram S., editor^Aff1, Tanzi, Rudolph E., editor^Aff2

المصدر: Alzheimer’s Disease : Advances in Genetics, Molecular and Cellular Biology. :1-16

Degree: MD

المؤلفون: van Broeckhoven, Christine^Aff32

المساهمون: Christen, Yves, editor^{Aff1, Aff31}, Agid, Yves, editor^Aff2, Aguayo, Albert, editor^Aff3, Anderton, Brian H., editor^Aff4, Bartus, Raymond T., editor^Aff5, Björklund, Anders, editor^Aff6, Bloom, Floyd, editor^Aff7, Boller, François, editor^Aff8, Cotman, Carl, editor^Aff9, Davies, Peter, editor^Aff10, Delacourte, Andre, editor^Aff11, Ferris, Steven, editor^Aff12, Foncin, Jean-François, editor^Aff2, Forette, Françoise, editor^Aff13, Gage, Fred, editor^Aff14, Goldgaber, Dmitry, editor^Aff15, Hardy, John, editor^Aff16, Hauw, Jean-Jacques, editor^Aff2, Kordon, Claude, editor^Aff17, Kosik, Kenneth S., editor^Aff18, Mallet, Jacques, editor^Aff2, Masters, Colin L., editor^Aff19, Rapoport, Stanley I., editor^Aff20, Reisberg, Barry, editor^Aff12, Roses, Allen, editor^Aff21, Selkoe, Dennis J., editor^Aff18, Shelanski, Michael L., editor^Aff22, Sinet, Pierre-Marie, editor^Aff23, St. George-Hyslop, Peter, editor^Aff24, Terry, Robert, editor^Aff25, Zarifian, Edouard, editor^Aff26, Jucker, Mathias, editor^Aff27, Beyreuther, Konrad, editor^Aff28, Haass, Christian, editor^Aff29, Nitsch, Roger M., editor^Aff30

المصدر: Alzheimer: 100 Years and Beyond. :237-240

المؤلفون: Graff-Radford, Neill R^Aff31

المساهمون: Christen, Yves, editor^{Aff1, Aff30}, Agid, Yves, editor^Aff2, Aguayo, Albert, editor^Aff3, Anderton, Brian H., editor^Aff4, Bartus, Raymond T., editor^Aff5, Björklund, Anders, editor^Aff6, Bloom, Floyd, editor^Aff7, Boller, François, editor^Aff8, Cotman, Carl, editor^Aff9, Davies, Peter, editor^Aff10, Delacourte, André, editor^Aff11, Ferris, Steven, editor^Aff12, Foncin, Jean-François, editor^Aff2, Forette, Françoise, editor^Aff13, Gage, Fred, editor^Aff14, Goldgaber, Dmitry, editor^Aff15, Hardy, John, editor^{Aff16, Aff29}, Hauw, Jean-Jacques, editor^Aff2, Kordon, Claude, editor^Aff17, Kosik, Kenneth S., editor^Aff18, Mallet, Jacques, editor^Aff2, Masters, Colin L., editor^Aff19, Rapoport, Stanley I., editor^Aff20, Reisberg, Barry, editor^Aff12, Roses, Allen, editor^Aff21, Selkoe, Dennis J., editor^Aff18, Shelanski, Michael L., editor^Aff22, Sinet, Pierre-Marie, editor^Aff23, George-Hyslop, Peter St., editor^Aff24, Terry, Robert, editor^Aff25, Zarifian, Edouard, editor^Aff26, Cummings, Jeffrey L., editor^Aff27, Poncet, Michel, editor^Aff28

المصدر: Genotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases. :93-101

Degree: M.D.
Ph.D.

المؤلفون: Roeber, Sigrun, Müller-Sarnowski, Felix, Kress, Julia, Edbauer, Dieter, Kuhlmann, Tanja, Tüttelmann, Frank, Schindler, Christoph, Winter, Pia, Arzberger, Thomas, Müller, Ulrich, Danek, Adrian, Kretzschmar, Hans A.

المصدر: Journal of Neural Transmission: Translational Neuroscience, Neurology and Preclinical Neurological Studies, Psychiatry and Preclinical Psychiatric Studies. December 2015 122(12):1715-1719

المؤلفون: Tim Anderson, C. J. Lintott, McKinlay Gardner, Purwa Joshi

المصدر: Alzheimer Disease & Associated Disorders. 35:350-352

مصطلحات موضوعية: Lewy Body Disease, Familial dementia, Psen1 mutation, Presenilin 1 mutation, business.industry, Dementia with Lewy bodies, medicine.disease, Bioinformatics, Psychiatry and Mental health, Clinical Psychology, Alzheimer Disease, Mutation, mental disorders, Presenilin-1, PSEN1, Humans, Medicine, Lewy Bodies, Geriatrics and Gerontology, business, Gerontology, Novel mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6eeea5eddb3bf45b6d0b26de928561
https://doi.org/10.1097/wad.0000000000000444