نتائج البحث - "Marc Bruyland"

1

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

المساهمون: Belgian Neurology Consortium, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, Pathologic Biochemistry and Physiology

المصدر: Neurobiology of aging

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Frontotemporal Dementia/genetics, 0302 clinical medicine, Belgium, C9orf72, Tubulin, Missense mutation, Amyotrophic lateral sclerosis, Genetics, Medicine(all), education.field_of_study, General Neuroscience, Amyotrophic Lateral Sclerosis/genetics, Middle Aged, 3. Good health, Frontotemporal Dementia, Mitochondrial Proteins/genetics, Cohort studies, Female, Frontotemporal dementia, Neuroscience(all), Nonsense mutation, Population, Clinical Neurology, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, mental disorders, medicine, Humans, education, Biology, Genetic Association Studies, Aged, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, nervous system diseases, Ageing, 030104 developmental biology, Neurology (clinical), Human medicine, Geriatrics and Gerontology, mutation, Trinucleotide repeat expansion, business, aged, 80 and over, 030217 neurology & neurosurgery, Developmental Biology, Tubulin/genetics

وصف الملف: pdf; Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8de458a4ea49707c85753bb5e49999aTest
https://repository.uantwerpen.be/docman/irua/f8279d/140638_2018_02_24.pdfTest

2

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

المؤلفون: Isabel Santana, Estrella Gómez-Tortosa, Federica Perrone, Patrick Cras, Alexandre de Mendonça, Jonathan Baets, Panagiotis Alexopoulos, Peter De Jonghe, Alessandro Padovani, Giovanni B. Frisoni, Frederico Simões do Couto, Håkan Thonberg, Philip Van Damme, Silvia Testi, Peter Paul De Deyn, Roberta Ghidoni, Matthew J. Fraidakis, Marc Bruyland, Maria Rosário Almeida, Alex Michotte, Jordi Clarimón, Agustín Ruiz, Jean Delbeck, Ilse Gijselinck, Jennifer Just, Olivier Deryck, Raquel Sánchez-Valle, Wim Robberecht, Matthis Synofzik, Giuliano Binetti, Adrian Ivanoiu, Sara Ortega-Cubero, Rik Vandenberghe, Isabel Hernández, Walter Maetzler, Ludger Schöls, Robert Perneczky, Kristel Sleegers, Ellen Gelpi, Alberto Lleó, Christine Van Broeckhoven, Julie van der Zee, Mercè Boada, Lubina Dillen, Eric Salmon, Marc Cruts, Patrick Santens, Sebastiaan Engelborghs, Janine Diehl-Schmid, Albert Lladó, Gian Maria Fabrizi, Radoslav Matej, Silvia Bagnoli, Pau Pastor, Frank Jessen, Barbara Borroni, Dirk Nuytten, Adrian Danek, Jan Versijpt, Bavo Heeman, Stayko Sarafov, Caroline Graff, Benedetta Nacmias, Luisa Benussi, Bart Dermaut, Johan Goeman, Michael T. Heneka, Katrien Smets, Gabor G. Kovacs, Christiana Willems, Sara Van Mossevelde, Albena Jordanova, Jan De Bleecker, Ricardo Rojas-García, Alfredo Ramirez, Bruno Bergmans, Ivailo Tournev, Veerle Bäumer, Gabriel Miltenberger-Miltenyi, Sandro Sorbi

المساهمون: Frisoni, Giovanni, Repositório da Universidade de Lisboa, Belgian Neurology Consortium, European Early-Onset Dementia Consortium

المصدر: Human Mutation, Vol. 38, No 3 (2017) pp. 297-309
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161

مصطلحات موضوعية: 0301 basic medicine, Male, ARGYROPHILIC GRAINS, amyotrophic lateral sclerosis, TBK1, TDP-43, diagnosis [Amyotrophic Lateral Sclerosis], FAMILIAL ALS, medicine.disease_cause, frontotemporal dementia, DISEASE, Cohort Studies, ddc:616.89, diagnosis [Frontotemporal Dementia], 0302 clinical medicine, NFkB luciferase reporter assay, metabolism [Protein Serine-Threonine Kinases], C9orf72, Medicine and Health Sciences, Missense mutation, Amyotrophic lateral sclerosis, Mutation frequency, genetics [Frontotemporal Dementia], Genetics (clinical), Research Articles, Sequence Deletion, Genetics, Genetics & Heredity, Mutation, metabolism [Protein-Serine-Threonine Kinases], NF-kappa B, FTD, TBK1 protein, human, Middle Aged, Protein-Serine-Threonine Kinases, genetics [Amyotrophic Lateral Sclerosis], genetics [European Continental Ancestry Group], Phenotype, ALS, NFκB luciferase reporter assay, TANK-Binding Kinase 1, mutations, metabolism [NF-kappa B], Female, Life Sciences & Biomedicine, Frontotemporal dementia, Mutations, Research Article, TANK‐Binding Kinase 1, Heterozygote, DIAGNOSTIC-CRITERIA, epidemiology [Frontotemporal Dementia], genetics [White People], C9ORF72, genetics [Protein Serine-Threonine Kinases], epidemiology [Amyotrophic Lateral Sclerosis], Biology, Protein Serine-Threonine Kinases, genetics [Protein-Serine-Threonine Kinases], White People, 03 medical and health sciences, mental disorders, medicine, Humans, BELGIAN COHORT, ddc:610, LOBAR DEGENERATION, Gene, Alleles, Genetic Association Studies, Aged, 0604 Genetics, Science & Technology, HEXANUCLEOTIDE REPEAT, 1103 Clinical Sciences, medicine.disease, REPEAT EXPANSION, Enzyme Activation, 030104 developmental biology, Amino Acid Substitution, Case-Control Studies, Human medicine, Trinucleotide repeat expansion, 030217 neurology & neurosurgery