المؤلفون: Jolien Perneel, Manuela Neumann, Bavo Heeman, Simon Cheung, Marleen Van den Broeck, Sarah Wynants, Matt Baker, Cristina T. Vicente, Júlia Faura, Rosa Rademakers, Ian R. A. Mackenzie

المصدر: Acta neuropathologica
Acta neuropathologica 145, 285–302 (2023). doi:10.1007/s00401-022-02531-3

مصطلحات موضوعية: metabolism [Nerve Tissue Proteins], Neurodegenerative disease, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, genetics [Membrane Proteins], FTLD-TDP, TMEM106B, genetics [Neurodegenerative Diseases], genetics [Aging], pathology [Frontotemporal Dementia], Humans, Intercellular Signaling Peptides and Proteins, Neurology (clinical), ddc:610, genetics [Frontotemporal Lobar Degeneration], Human medicine, genetics [Frontotemporal Dementia], metabolism [Membrane Proteins], genetics [Nerve Tissue Proteins], Frontotemporal dementia, GRN

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f653debe7e6fec04abdff5fe904a6339Test
https://pubmed.ncbi.nlm.nih.gov/36607424Test

المؤلفون: Bernd Knöll, Renate Lüllmann-Rauch, Paul Saftig, Christian Haass, Yasuo Uchiyama, Wolfgang Wurst, Renate Wanner, Anja Capell, Rudi D'Hooge, Georg Werner, Stijn Stroobants, Patrick Lüningschrör, Benedikt Wefers, Daniela Sinske, Soichiro Kakuta, Michael Sendtner, Benjamin Dombert, Markus Damme

المصدر: Cell Reports, Vol 30, Iss 10, Pp 3506-3519.e6 (2020)
Cell reports 30(10), 3506-3519.e6 (2020). doi:10.1016/j.celrep.2020.02.060

مصطلحات موضوعية: 0301 basic medicine, MODIFIER, Vacuole, pathology [Facial Nerve], VARIANTS, Axonal Transport, metabolism [Lysosomes], 0302 clinical medicine, innervation [Muscles], Risk Factors, Axon, lcsh:QH301-705.5, genetics [Nerve Tissue Proteins], Mice, Knockout, Motor Neurons, DEMENTIA, Muscles, ultrastructure [Autophagosomes], ultrastructure [Axon Initial Segment], Frontotemporal lobar degeneration, metabolism [Autophagosomes], Cell biology, genetics [Membrane Proteins], Facial Nerve, medicine.anatomical_structure, genetics [Frontotemporal Lobar Degeneration], Life Sciences & Biomedicine, PROTEINS, Nerve Tissue Proteins, ultrastructure [Motor Neurons], Biology, General Biochemistry, Genetics and Molecular Biology, MECHANISMS, Lipofuscin, 03 medical and health sciences, pathology [Brain Stem], MOTILITY, Lysosome, Organelle, medicine, Animals, Genetic Predisposition to Disease, ddc:610, metabolism [Cell Nucleus], PROGRANULIN, deficiency [Membrane Proteins], Axon Initial Segment, Cell Nucleus, FRONTOTEMPORAL LOBAR DEGENERATION, Science & Technology, deficiency [Nerve Tissue Proteins], MUTATIONS, Autophagosomes, metabolism [Axon Initial Segment], Membrane Proteins, ultrastructure [Lysosomes], metabolism [Motor Neurons], Cell Biology, medicine.disease, Axon initial segment, Mice, Inbred C57BL, 030104 developmental biology, nervous system, lcsh:Biology (General), Axoplasmic transport, Frontotemporal Lobar Degeneration, Lysosomes, 030217 neurology & neurosurgery, Brain Stem

وصف الملف: Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eaa4dcd1581611e9ae6d198c56b849fTest
http://www.sciencedirect.com/science/article/pii/S221112472030228XTest

المؤلفون: Pietro Tiraboschi, Katrina M. Moore, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Begoña Indakoetxea, Serge Gauthier, Thomas E. Cope, Mikel TaintaMD, Enrico Premi, Philip Vandamme, Giorgio Giaccone, Mircea Balasa, Sandra E. Black, John C. van Swieten, Catharina Prix, Sergi Borrego-Écija, Sandro Sorbi, Håkan Thonberg, Roser Sala-Llonch, Rick van Minkelen, Maria de Arriba, Elizabeth Finger, Michele Veldsman, Raquel Sánchez-Valle, Vesna Jelic, Veronica Redaelli, Zigor Diaz, James B. Rowe, Daniela Galimberti, Rhian S Convery, Anna Antonell, Miren Zulaica, Jennifer M. Nicholas, Alessandro Padovani, Diana Duro, Giuseppe Di Fede, Albert Lladó, Núria Bargalló, Pedro Rosa-Neto, Sara Prioni, Alazne Gabilondo, C. Ferreira, Andrea Arighi, Sara Mitchell, Mario Masellis, Chiara Fenoglio, Rachelle Shafei, Benjamin Bender, Rik Vandenberghe, Isabel Santana, Carlo Wilke, Christen Shoesmith, Janne M. Papma, Mathieu Vandenbulcke, Robart Bartha, Sandra V. Loosli, Giorgio Fumagalli, Ana Verdelho, Robert Laforce, Paola Caroppo, Adrian Danek, Jessica L. Panman, Maria Rosário Almeida, Carolin Heller, Jorge Villanua, Johannes Levin, Rita Guerreiro, Stefano Gazzina, Jose Bras, Miguel Castelo-Branco, Ekaterina Rogaeva, Fabrizio Tagliavini, Giacomina Rossi, Markus Otto, Timothy Rittman, Beatriz Santiago, Simon Mead, Rosa Rademakers, Maria João Leitão, Simon Ducharme, Sarah Anderl-Straub, Ron Keren, Ione O.C. Woollacott, Morris Freedman, Gabriel Miltenberger, Fermin Moreno, Martin N. Rossor, Tobias Hoegen, Jaume Olives, Carolyn Timberlake, Barbara Borroni, Ricardo Taipa, Elio Scarpini, David M. Cash, Miguel Tábuas-Pereira, Roberto Gasparotti, Sonja Schönecker, Martina Bocchetta, Lieke H.H. Meeter, Alexander Gerhard, Rose Bruffaerts, Carmela Tartaglia, Caroline V. Greaves, Christopher C Butler, Toby Flanagan, Sónia Afonso, Matthis Synofzik, Linn Öijerstedt, David F. Tang-Wai, Yolande A.L. Pijnenburg, Maura Cosseddu, Carolina Maruta, Alexandre de Mendonça, Christin Andersson, Caroline Graff, Ana Gorostidi, Silvana Archetti, Giovanni B. Frisoni, Elisabeth Wlasich, Mollie Neason, Elisa Semler

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, Clinical Psychology, Clinical Genetics, Repositório da Universidade de Lisboa, Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository

المصدر: NeuroImage: Clinical, 29:102540. Elsevier BV
NeuroImage: Clinical, 29:102540. Elsevier
NeuroImage: Clinical 29, 102540-(2021). doi:10.1016/j.nicl.2020.102540
Medical Biophysics Publications
NeuroImage : Clinical
Borrego-Écija, S, Sala-Llonch, R, van Swieten, J, Borroni, B, Moreno, F, Masellis, M, Tartaglia, C, Graff, C, Galimberti, D, Laforce, R, Rowe, J B, Finger, E, Vandenberghe, R, Tagliavini, F, de Mendonça, A, Santana, I, Synofzik, M, Ducharme, S, Levin, J, Danek, A, Gerhard, A, Otto, M, Butler, C, Frisoni, G, Sorbi, S, Heller, C, Bocchetta, M, Cash, D M, Convery, R S, Moore, K M, Rohrer, J D, Sanchez-Valle, R, Rossor, M N, Fox, N C, Woollacott, I O C, Shafei, R, Greaves, C, Neason, M, Guerreiro, R, Bras, J, Thomas, D L, Nicholas, J, Mead, S, Meeter, L, Panman, J, Papma, J, van Minkelen, R, Pijnenburg, Y, Indakoetxea, B, Gabilondo, A, TaintaMD, M, de Arriba, M, Gorostidi, A, Zulaica, M, Villanua, J, Diaz, Z, Olives, J, Lladó, A, Balasa, M, Antonell, A, Bargallo, N, Premi, E, Cosseddu, M, Gazzina, S, Padovani, A, Gasparotti, R, Archetti, S, Black, S, Mitchell, S, Rogaeva, E, Freedman, M, Keren, R, Tang-Wai, D, Öijerstedt, L, Andersson, C, Jelic, V, Thonberg, H, Arighi, A, Fenoglio, C, Scarpini MD, E, Fumagalli, G, Cope, T, Timberlake, C, Rittman, T, Shoesmith, C, Bartha, R, Rademakers, R, Wilke, C, Bender, B, Bruffaerts, R, Vandamme, P, Vandenbulcke, M, Maruta, C, Ferreira, C B, Miltenberger, G, Verdelho, A, Afonso, S N, Taipa, R, Caroppo, P, di Fede, G, Giaccone, G, Prioni, S, Redaelli, V, Rossi, G, Tiraboschi, P, Duro, D, Rosario Almeida, M, Castelo-Branco, M, João Leitão, M, Tabuas-Pereira, M, Santiago, B, Gauthier, S, Rosa-Neto, P, Veldsman, M, Flanagan, T, Prix, C, Hoegen, T, Wlasich, E, Loosli, S, Schonecker, S, Semler, E & Anderl-Straub, S 2021, ' Disease-related cortical thinning in presymptomatic granulin mutation carriers ', NeuroImage: Clinical, vol. 29, 102540 . https://doi.org/10.1016/j.nicl.2020.102540Test
NeuroImage: Clinical, Vol 29, Iss, Pp 102540-(2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Oncology, Granulin, Disease, Gene mutation, lcsh:RC346-429, 0302 clinical medicine, Progranulins, Supramarginal gyrus, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], Granulins, Temporal cortex, 05 social sciences, Regular Article, Cerebral Cortical Thinning, Genetic mutations, genetics [Membrane Proteins], Neurology, Frontotemporal Dementia, lcsh:R858-859.7, Life Sciences & Biomedicine, Frontotemporal dementia, GRN, medicine.medical_specialty, Heterozygote, Cognitive Neuroscience, Presymptomatic, Neuroimaging, Nerve Tissue Proteins, genetics [Mutation], Genetic FTD Initiative GENFI, lcsh:Computer applications to medicine. Medical informatics, diagnostic imaging [Frontotemporal Dementia], 050105 experimental psychology, Cortical thickness, 03 medical and health sciences, Internal medicine, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, ddc:610, lcsh:Neurology. Diseases of the nervous system, Science & Technology, business.industry, Membrane Proteins, medicine.disease, Mutation, Neurosciences & Neurology, Neurology (clinical), 1109 Neurosciences, business, Asymptomatic carrier, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206c236cf6771818dba529a883b4673fTest
https://research.vumc.nl/en/publications/f32bfcad-31e0-49f2-b957-578f21195ea2Test

المؤلفون: Atsushi Nambu, Makoto Sanbo, Xiumin Chen, Yuko Fukata, Harald Prüss, Hans-Christian Kornau, Hiroki Inahashi, Masumi Hirabayashi, Teppei Goto, Roger A. Nicoll, Yoko Hirano, Atsushi Yamagata, Satomi Chiken, Masaki Fukata, Shuya Fukai, Hiromi Sano

المصدر: Proceedings of the National Academy of Sciences of the United States of America 118(3), e2022580118-(2021). doi:10.1073/pnas.2022580118
Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: 0301 basic medicine, Hippocampus, metabolism [Hippocampus], genetics [ADAM Proteins], Synaptic Transmission, pathology [Epilepsy], Epilepsy, Mice, 0302 clinical medicine, Postsynaptic potential, pathology [Brain], Adam22 protein, mouse, Gene Knock-In Techniques, AMPA receptor, Neural Cell Adhesion Molecules, genetics [Nerve Tissue Proteins], Multidisciplinary, Intracellular Signaling Peptides and Proteins, Brain, Biological Sciences, genetics [Membrane Proteins], NMDA receptor, ddc:500, genetics [Receptors, AMPA], genetics [Calcium-Binding Proteins], genetics [Synaptic Transmission], Lgi1 protein, mouse, Guanylate kinase, genetics [Epilepsy], transsynaptic nanocolumn, Nerve Tissue Proteins, prevention & control [Epilepsy], Neurotransmission, Biology, LGI1–ADAM22, Receptors, N-Methyl-D-Aspartate, 03 medical and health sciences, genetics [Shaker Superfamily of Potassium Channels], genetics [Receptors, N-Methyl-D-Aspartate], medicine, Animals, Humans, genetics [Neural Cell Adhesion Molecules], Receptors, AMPA, LRRTM4 protein, mouse, ADAM22, Calcium-Binding Proteins, Membrane Proteins, MAGUK, medicine.disease, Disease Models, Animal, ADAM Proteins, 030104 developmental biology, pathology [Hippocampus], nervous system, metabolism [Brain], Shaker Superfamily of Potassium Channels, epilepsy, genetics [Intracellular Signaling Peptides and Proteins], Nrxn1 protein, mouse, Neuroscience, genetics [Guanylate Kinases], Guanylate Kinases, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68628950b12bc111c5ad4ecbb0ec6b28Test

المؤلفون: Rachelle Shafei, Albert Lladó, Benjamin Bender, Luisa Benussi, Elisabeth Wlasich, Martha S. Foiani, Isabel Santana, Christen Shoesmith, Ione O.C. Woollacott, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Pietro Tiraboschi, Mario Masellis, Sergi Borrego-Écija, Giorgio G. Fumagalli, Ron Keren, Sandro Sorbi, Rick van Minkelen, Vesna Jelic, Ekaterina Rogaeva, Mollie Neason, Enrico Premi, Timothy Rittman, Lieke H.H. Meeter, Giacomina Rossi, Veronica Redaelli, Roberta Ghidoni, Begoña Indakoetxea, Johannes Levin, Håkan Thonberg, Rhian S Convery, Henrik Zetterberg, Gemma Lombardi, Giuseppe Di Fede, Chiara Fenoglio, Jose Bras, Daniela Galimberti, Simon Mead, Miren Zulaica, David M. Cash, Gabriel Miltenberger, Markus Otto, Simon Ducharme, Myriam Barandiaran, Katrina M. Moore, Alessandro Padovani, Thomas E. Cope, Elizabeth Finger, Maria Carmela Tartaglia, Martin N. Rossor, M. Jorge Cardoso, Sara Mitchell, Rik Vandenberghe, Pedro Rosa-Neto, John C. van Swieten, Sarah Anderl-Straub, Maria Rosário Almeida, Zigor Diaz, Robart Bartha, Maria de Arriba, Caroline V. Greaves, Philip Vandamme, Giorgio Giaccone, Adrian Danek, Miguel Tábuas-Pereira, Carolina Maruta, Roberto Gasparotti, Jennifer M. Nicholas, Martina Bocchetta, Elisa Semler, Valentina Bessi, C. Ferreira, Robert Laforce, Sandra V. Loosli, Ana Verdelho, Paola Caroppo, Jaume Olives, Giuliano Binetti, Carolin Heller, Jorge Villanua, Stefano Gazzina, Amanda Heslegrave, Alazne Gabilondo, Sandra E. Black, Y.A.L. Pijnenburg, Mikel Tainta, Carolyn Timberlake, Sónia Afonso, Matthis Synofzik, Janne M. Papma, Sebastien Ourselin, Núria Bargalló, Barbara Borroni, Ricardo Taipa, Hans-Otto Karnarth, Camilla Ferrari, David F. Tang-Wai, Diana Duro, Catharina Prix, Serge Gauthier, Sara Prioni, Carlo Wilke, Michele Veldsman, Alexandre de Mendonça, Andrea Arighi, Christopher C Butler, Raquel Sánchez-Valle, Toby Flanagan, Carole H. Sudre, Jason D. Warren, Rita Guerreiro, Linn Öijerstedt, Beatriz Santiago, Rosa Rademakers, Miguel Castelo-Branco, Fabrizio Tagliavini, Maria João Leitão, Anna Antonell, Mathieu Vandenbulcke, Rose Bruffaerts, Jessica L. Panman, Alexander Gerhard, Tobias Hoegen, Ana Gorostidi, Silvana Archetti, James B. Rowe, Michela Pievani, Elio Scarpini, Giovanni B. Frisoni, Benedetta Nacmias, Sonja Schönecker, Maura Cosseddu, Christin Andersson, Caroline Graff, Morris Freedman, Fermin Moreno, Mircea Balasa, Lize C. Jiskoot

المساهمون: Sudre, Carole H [0000-0001-5753-428X], Apollo - University of Cambridge Repository, Rowe, James [0000-0001-7216-8679], Neurology

المصدر: NeuroImage : Clinical
NeuroImage: Clinical, Vol. 24 (2019) P. 102077
NeuroImage: Clinical, 24:102077. Elsevier
NeuroImage: Clinical 24, 102077-(2019). doi:10.1016/j.nicl.2019.102077
NeuroImage: Clinical, Vol 24, Iss, Pp-(2019)

مصطلحات موضوعية: Oncology, Male, SEGMENTATION, PROTEIN, physiopathology [Frontotemporal Dementia], DISEASE, 0302 clinical medicine, White matter hyperintensities, blood [Glial Fibrillary Acidic Protein], Longitudinal Studies, education.field_of_study, Regular Article, Neurology, Frontotemporal Dementia, Disease Progression, GRN, medicine.medical_specialty, lcsh:Computer applications to medicine. Medical informatics, MRI, Magnetic Resonance Imaging, White matter, 03 medical and health sciences, AGE, Humans, neurofilament protein L, education, Aged, CSF, Cerebrospinal fluid, Science & Technology, Trail Making Test, Frontotemporal dementia, Dementia, Progranulin, medicine.disease, POLYMORPHISM, Case-Control Studies, Asymptomatic Diseases, Mutation, Neurosciences & Neurology, Neurology (clinical), GENFI, 030217 neurology & neurosurgery, Executive dysfunction, blood [Frontotemporal Dementia], GFAP, Glial Fibrillary Acidic Protein, blood [Neurofilament Proteins], lcsh:RC346-429, genetics [Progranulins], Executive Function, Progranulins, pathology [Gray Matter], Neurofilament Proteins, BRAIN ATROPHY, GM, Grey Matter, Gray Matter, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], 05 social sciences, Organ Size, Middle Aged, Magnetic Resonance Imaging, White Matter, genetics [Membrane Proteins], medicine.anatomical_structure, FTD, Frontotemporal dementia, GENFI, GENetic Frontotemporal dementia Initiative, lcsh:R858-859.7, Female, Life Sciences & Biomedicine, Adult, Heterozygote, Cognitive Neuroscience, Population, Prodromal Symptoms, Neuroimaging, PHENOTYPES, Nerve Tissue Proteins, MUTATION CARRIERS, WM, White Matter, Grey matter, diagnostic imaging [Frontotemporal Dementia], 050105 experimental psychology, diagnostic imaging [White Matter], Atrophy, TMEM106B protein, human, Internal medicine, mental disorders, Glial Fibrillary Acidic Protein, medicine, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, ddc:610, lcsh:Neurology. Diseases of the nervous system, business.industry, GFAP protein, human, WMH, White Matter Hyperintensity, diagnostic imaging [Gray Matter], Membrane Proteins, Hyperintensity, GRN, Progranulin, TMEM106B, ddc:618.97, GRN protein, human, business

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afca27b8baf2e0e1c1a1dd3020431e43Test
http://europepmc.org/articles/PMC6911860Test

المؤلفون: Michel G. Nivard, Stefan Bonn, Hannelore Ehrenreich, Stephan Ripke, Casper A.P. Burik, Martin Begemann, Philipp Koellinger, Ronald de Vlaming, Vikas Bansal, Richard Karlsson Linnér, Aysu Okbay, Marina Mitjans, Cornelius A. Rietveld

المساهمون: Applied Economics, Economics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications
Nature Communications, 9:3078. Nature Publishing Group
Nature Communications, 9(1):3078, 1-12. Nature Publishing Group
Bansal, V, Mitjans, M, Burik, C A P, Linnér, R K, Okbay, A, Rietveld, C A, Begemann, M, Bonn, S, Ripke, S, de Vlaming, R, Nivard, M G, Ehrenreich, H & Koellinger, P D 2018, ' Genome-wide association study results for educational attainment aid in identifying genetic heterogeneity of schizophrenia ', Nature Communications, vol. 9, no. 1, 3078, pp. 1-12 . https://doi.org/10.1038/s41467-018-05510-zTest
Nature Communications 9(1), 3078 (2018). doi:10.1038/s41467-018-05510-z

مصطلحات موضوعية: Male, 0301 basic medicine, Linkage disequilibrium, Candidate gene, Bipolar Disorder, General Physics and Astronomy, Genome-wide association study, genetics [Cognition Disorders], Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, genetics [Schizophrenia], SLITRK1 protein, human, lcsh:Science, genetics [Nerve Tissue Proteins], Genetics, 0303 health sciences, Multidisciplinary, Forkhead Transcription Factors, Middle Aged, SLITRK1, genetics [Membrane Proteins], Phenotype, Schizophrenia, genetics [Forkhead Transcription Factors], Educational Status, Female, ddc:500, SDG 4 - Quality Education, Adult, Adolescent, Science, Concordance, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, mental disorders, medicine, Humans, Bipolar disorder, Allele frequency, Aged, 030304 developmental biology, Models, Genetic, Genetic heterogeneity, Assortative mating, Reproducibility of Results, Membrane Proteins, General Chemistry, medicine.disease, FOXO6 protein, human, 030104 developmental biology, lcsh:Q, Cognition Disorders, genetics [Bipolar Disorder], 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82934abe3946773115ae02f20db906bTest

المؤلفون: Alleene V. Strickland, Michela D’Aloia, Michael A. Gonzalez, Jia Huang, Mark T. Rogers, James W. Connell, Ludger Schöls, Stephan Züchner, Hiroyuki Ishiura, Gladys Montenegro, Lisa Baumbach-Reardon, Shoji Tsuji, Jeffery M. Vance, Justin Price, Tine Deconinck, Margaret A. Pericak-Vance, Carla Babalini, Pasqua Montieri, Rachel Allison, Giorgio Bernardi, Rebecca Schüle, Adriana P. Rebelo, Antonio Orlacchio, Evan Reid, Peter De Jonghe

المصدر: The journal of clinical investigation
The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560

مصطلحات موضوعية: pathology [Spastic Paraplegia, Hereditary], Spastin, Settore MED/09 - Medicina Interna, DNA Mutational Analysis, Muscle Proteins, genetics [Muscle Proteins], Endoplasmic Reticulum, medicine.disease_cause, metabolism [Endoplasmic Reticulum], Spastic Paraplegia, genetics [Nerve Tissue Proteins], Exome sequencing, Adenosine Triphosphatases, Genetics, Mutation, Medicine (all), General Medicine, genetics [Adenosine Triphosphatases], genetics [Membrane Proteins], Hereditary, Research Article, Hereditary spastic paraplegia, ultrastructure [Endoplasmic Reticulum], metabolism [Muscle Proteins], Nerve Tissue Proteins, Biology, HeLa Cells, Humans, HEK293 Cells, Spastic Paraplegia, Hereditary, Membrane Proteins, Frameshift mutation, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], RTN2 protein, human, SPAST protein, human, medicine, ddc:610, Gene, metabolism [Nerve Tissue Proteins], medicine.disease, Membrane protein, Reticulon, Human medicine, metabolism [Adenosine Triphosphatases], metabolism [Membrane Proteins]

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79adc26c3da7a07c507da53f4135f3afTest
https://doi.org/10.1172/jci60560Test

المؤلفون: Rosa Rademakers, Andrew Kertesz, Kimmo J. Hatanpaa, Melissa E. Murray, Michael J. Strong, Neill R. Graff-Radford, Elizabeth Finger, Richard J. Caselli, Ian R. Mackenzie, Kevin B. Boylan, Anna Karydas, Joseph E. Parisi, Manuela Neumann, Thomas G. Beach, David S. Knopman, Bradley F. Boeve, Keith A. Josephs, Bianca Mullen, Ging-Yuek Robin Hsiung, Ronald C. Petersen, Lea T. Grinberg, William W. Seeley, Sandra Weintraub, Michael G. Heckman, Heather Stewart, Matt Baker, Eileen H. Bigio, Zbigniew K. Wszolek, Carol F. Lippa, Marka van Blitterswijk, Charles L. White, Dennis W. Dickson, Leonard Petrucelli, M.-Marsel Mesulam, Patricia H. Brown, Bruce L. Miller, Mariely DeJesus-Hernandez

المصدر: Neurobiology of aging, vol 35, iss 10
Neurobiology of aging
Neurobiology of aging 35(10), 2421.e13-2421.e17 (2014). doi:10.1016/j.neurobiolaging.2014.04.016

مصطلحات موضوعية: Male, Aging, SMN1, Neurodegenerative, Cohort Studies, SMN2 protein, human, genetics [Survival of Motor Neuron 2 Protein], C9orf72, Amyotrophic lateral sclerosis, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], NIPA1 protein, human, Ataxin-2, Genetics, DNA Repeat Expansion, General Neuroscience, ATXN2, genetics [Survival of Motor Neuron 1 Protein], Middle Aged, Disease modifier, Survival of Motor Neuron 2 Protein, genetics [Membrane Proteins], Frontotemporal Dementia (FTD), Ataxins, Frontotemporal Dementia, Neurological, genetics [Motor Neuron Disease], Frontotemporal dementia, Adult, Heterozygote, Clinical Sciences, genetics [DNA Repeat Expansion], C9ORF72, Nerve Tissue Proteins, Biology, Article, Rare Diseases, Clinical Research, Angelman syndrome, medicine, Acquired Cognitive Impairment, Humans, ddc:610, Motor neuron disease, Motor Neuron Disease, Genetic Association Studies, Neurology & Neurosurgery, C9orf72 Protein, Genetic heterogeneity, Neurosciences, Proteins, Membrane Proteins, medicine.disease, genetics [Proteins], Survival of Motor Neuron 1 Protein, nervous system diseases, Brain Disorders, Ataxin, Dementia, Human medicine, Neurology (clinical), C9orf72 protein, human, SMN1 protein, human, Geriatrics and Gerontology, ALS, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fd968afcfad86eb3ed1ac696f9d49fTest
https://escholarship.org/uc/item/0c5158p7Test

المؤلفون: Stefan Stodieck, Bernhard Kohl, Judith Osseforth, Silke Gassner, Matthias Lindenau, Burkhard Puest, Saskia Biskup, Ebba Lohmann, Frieder Brueckner

المصدر: European journal of paediatric neurology 18(4), 540-542 (2014). doi:10.1016/j.ejpn.2014.03.012

مصطلحات موضوعية: Adult, Male, Adolescent, Genetic counseling, genetics [Epilepsy, Benign Neonatal], PRRT2 protein, human, genetics [Mutation], Nerve Tissue Proteins, Biology, complications [Seizures], medicine.disease_cause, complications [Epilepsy, Benign Neonatal], Exon, Chorea, Seizures, genetics [Dyskinesias], Convulsion, medicine, Humans, ddc:610, Child, Gene, genetics [Nerve Tissue Proteins], Genetics, Family Health, Mutation, Dyskinesias, Membrane Proteins, Infantile convulsions and choreoathetosis, PRRT2 Gene, General Medicine, medicine.disease, genetics [Seizures], Epilepsy, Benign Neonatal, genetics [Chorea], complications [Dyskinesias], genetics [Membrane Proteins], complications [Chorea], Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, PRRT2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27143def31a31fe9f224496123807a3Test
https://pub.dzne.de/record/137461Test

المؤلفون: Johnathan Cooper-Knock, Jill R. Murrell, Ann C. McKee, Päivi Hartikainen, Randall L. Woltjer, Peter Paul De Deyn, Lisa C. Silbert, Virginia M.-Y. Lee, Alice Chen-Plotkin, Leo McCluskey, Carol Dobson-Stone, Albert Lladó, David G. Munoz, Paul G. Ince, Nenad Bogdanovic, Carl W. Cotman, Douglas Galasko, Julie van der Zee, Patrick Cras, Christopher J McDermott, Pamela J. Shaw, Murray Grossman, Nick C. Fox, Jillian J. Kril, Stephen B. Wharton, Jonathan D. Rohrer, Eliezer Masliah, Salvatore Spina, Andrew P. Lieberman, Bernardino Ghetti, Olivier Piguet, Kimmo J. Hatanpaa, John B.J. Kwok, Glenda M. Halliday, Vivianna M. Van Deerlin, Janine Kirby, Mary Sano, Julia Kofler, Lauren Elman, Christine M. Hulette, Christine Van Broeckhoven, Irina Alafuzoff, Jordan Grafman, John Q. Trojanowski, Simon Mead, Ilse Gijselinck, Nigel J. Cairns, Sebastiaan Engelborghs, Danielle Seilhean, Lee-Way Jin, Catriona McLean, Allan I. Levey, William S. Brooks, Josh Miller, Julie A. Schneider, Charles L. White, Anna Antonell, Raquel Sánchez-Valle, Safa Al-Sarraj, Ellen Gelpi, John C. van Swieten, Manuela Neumann, Matthew P. Frosch, Henry L. Paulson, Tim Van Langenhove, EunRan Suh, Jason D. Warren, J. Robin Highley, Marc Cruts, John R. Hodges, Martin N. Rossor, Jean Jacques Martin, Charles DeCarli, Michael D. Gallagher, Marla Gearing, Carol A. Miller

المساهمون: Neurology, Obstetrics & Gynecology, Surgery, Human genetics, NCA - neurodegeneration

المصدر: Gallagher, M D, Suh, E R, Grossman, M, Elman, L, McCluskey, L, van Swieten, J C, Al-Sarraj, S, Neumann, M, Gelpi, E, Ghetti, B, Rohrer, J D, Halliday, G, Van Broeckhoven, C, Seilhean, D, Shaw, P J, Frosch, M P, Alafuzoff, I, Antonell, A, Bogdanovic, N, Brooks, W, Cairns, N J, Cooper-Knock, J, Cotman, C, Cras, P, Cruts, M, de Deyn, P P, deCarli, C, Dobson-Stone, C, Engelborghs, S, Fox, N, Galasko, D, Gearing, M, Gijselinck, I, Grafman, J, Hartikainen, P, Hatanpaa, K J, Highley, J R, Hodges, J, Hulette, C, Ince, P G, Jin, L W, Kirby, J, Kofler, J, Kril, J, Kwok, J B J, Levey, A, Lieberman, A, Llado, A, Martin, J J, Masliah, E, McDermott, C J, McKee, A, McLean, C, Mead, S, Miller, C A, Miller, J, Munoz, D G, Murrell, J, Paulson, H, Piguet, O, Rossor, M, Sanchez-Valle, R, Sano, M, Schneider, J, Silbert, L C, Spina, S, van der Zee, J, Van Langenhove, T, Warren, J, Wharton, S B, White, C L, Woltjer, R L, Trojanowski, J Q, Lee, V M Y, Van Deerlin, V & Chen-Plotkin, A S 2014, ' TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions ', Acta Neuropathologica, vol. 127, no. 3, pp. 407-418 . https://doi.org/10.1007/s00401-013-1239-xTest
Acta neuropathologica, vol 127, iss 3
Acta neuropathologica 127(3), 407-418 (2014). doi:10.1007/s00401-013-1239-x
Acta Neuropathologica, 127(3), 407-418. Springer-Verlag
Acta Neuropathologica, 127(3), 407-418. Springer Verlag
Acta neuropathologica

مصطلحات موضوعية: Male, mortality [Amyotrophic Lateral Sclerosis], Aging, Neurodegenerative, Genetic modifier, Cohort Studies, 0302 clinical medicine, Progranulins, C9orf72, Genotype, 80 and over, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, Aetiology, Age of Onset, Alzheimer's Disease Related Dementias (ADRD), genetics [Nerve Tissue Proteins], Genetics, Aged, 80 and over, 0303 health sciences, DNA Repeat Expansion, blood [Intercellular Signaling Peptides and Proteins], Age Factors, Frontotemporal lobar degeneration, Single Nucleotide, Middle Aged, 3. Good health, genetics [Amyotrophic Lateral Sclerosis], genetics [Membrane Proteins], Frontotemporal Dementia (FTD), Neurological, mortality [Frontotemporal Lobar Degeneration], Intercellular Signaling Peptides and Proteins, Female, genetics [Frontotemporal Lobar Degeneration], Frontotemporal dementia, Adult, Heterozygote, Clinical Sciences, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, TMEM106B protein, human, Rare Diseases, SDG 3 - Good Health and Well-being, mental disorders, medicine, Acquired Cognitive Impairment, Humans, Genetic Predisposition to Disease, ddc:610, blood [Frontotemporal Lobar Degeneration], Allele, Polymorphism, Alleles, 030304 developmental biology, Aged, Neurology & Neurosurgery, C9orf72 Protein, Prevention, Amyotrophic Lateral Sclerosis, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, Membrane Proteins, Proteins, medicine.disease, genetics [Proteins], Brain Disorders, nervous system diseases, TMEM106B, GRN protein, human, Dementia, Neurology (clinical), Human medicine, Age of onset, C9orf72 protein, human, Frontotemporal Lobar Degeneration, 030217 neurology & neurosurgery

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df5a2a95a9f36401f47f03b53fa5fa3Test
https://research.vumc.nl/en/publications/16668399-814b-40f8-a978-0e5a86d59bcbTest