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1. Full Text Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis
by Rohrer, Jonathan D, PhD and Nicholas, Jennifer M, PhD and Cash, David M, PhD and van Swieten, John, Prof and Dopper, Elise, MD and Jiskoot, Lize, MSc and van Minkelen, Rick, PhD and Rombouts, Serge A, Prof and Cardoso, M Jorge, PhD and Clegg, Shona, BSc and Espak, Miklos, PhD and Mead, Simon, PhD and Thomas, David L, PhD and De Vita, Enrico, PhD and Masellis, Mario, MD and Black, Sandra E, Prof and Freedman, Morris, Prof and Keren, Ron, MD and MacIntosh, Bradley J, PhD and Rogaeva, Ekaterina, PhD and Tang-Wai, David, MD and Tartaglia, Maria Carmela, MD and Laforce, Robert, MD and Tagliavini, Fabrizio, MD and Tiraboschi, Pietro, MD and Redaelli, Veronica, MD and Prioni, Sara, MSc and Grisoli, Marina, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Galimberti, Daniela, PhD and Scarpini, Elio, MD and Arighi, Andrea, MD and Fumagalli, Giorgio, MD and Rowe, James B, PhD and Coyle-Gilchrist, Ian, MB and Graff, Caroline, Prof and Fallström, Marie, MSc and Jelic, Vesna, MD and Ståhlbom, Anne Kinhult, PhD and Andersson, Christin, PhD and Thonberg, Håkan, PhD and Lilius, Lena, BSc and Frisoni, Giovanni B, Prof and Binetti, Giuliano and Pievani, Michela, PhD and Bocchetta, Martina, MSc and Benussi, Luisa, PhD and Ghidoni, Roberta, PhD and Finger, Elizabeth, MD and Sorbi, Sandro, Prof and Nacmias, Benedetta, PhD and Lombardi, Gemma, MD and Polito, Cristina, PhD and Warren, Jason D, Prof and Ourselin, Sebastien, Prof and Fox, Nick C, Prof and Rossor, Martin N, Prof
The Lancet Neurology, ISSN 1474-4422, 2015, Volume 14, Issue 3, pp. 253 - 262
Summary Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal... 
Neurology | PROGRANULIN MUTATION CARRIERS | REPEAT EXPANSION | LOBAR DEGENERATION | NETWORK CONNECTIVITY | ATROPHY | ALZHEIMERS-DISEASE | TAU | BEHAVIORAL VARIANT | C9ORF72 | PROGRESSION | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | Humans | Middle Aged | Male | Cognition Disorders - genetics | Frontotemporal Dementia - psychology | Asymptomatic Diseases | Frontotemporal Dementia - diagnosis | Mutation - genetics | Neuropsychological Tests | Cognition Disorders - diagnosis | Brain - pathology | Adult | Female | Cognition Disorders - psychology | Nervous system diseases | Neurosciences | Gene mutations | Analysis | Genetic research | Alzheimer's disease | Medical imaging equipment | Studies | Volumetric analysis | Memory | Biomarkers | Mutation | Family medical history | Alzheimers disease | Age | Dementia
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2. Full Text Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial
by Haïk, Stéphane, MD and Marcon, Gabriella, MD and Mallet, Alain, Prof and Tettamanti, Mauro, PhD and Welaratne, Arlette and Giaccone, Giorgio, MD and Azimi, Shohreh, BSc and Pietrini, Vladimiro, MD and Fabreguettes, Jean-Roch, PharmD and Imperiale, Daniele, MD and Cesaro, Pierre, Prof and Buffa, Carlo, MD and Aucan, Christophe, PhD and Lucca, Ugo, MSc and Peckeu, Laurène, MSc and Suardi, Silvia, PhD and Tranchant, Christine, Prof and Zerr, Inga, Prof and Houillier, Caroline, MD and Redaelli, Veronica, MD and Vespignani, Hervé, Prof and Campanella, Angela, BSN and Sellal, François, MD and Krasnianski, Anna, MD and Seilhean, Danielle, Prof and Heinemann, Uta, MD and Sedel, Frédéric, MD and Canovi, Mara, PhD and Gobbi, Marco, PhD and Di Fede, Giuseppe, MD and Laplanche, Jean-Louis, Prof and Pocchiari, Maurizio, MD and Salmona, Mario, PhD and Forloni, Gianluigi, PhD and Brandel, Jean-Philippe, MD and Tagliavini, Fabrizio, Dr
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 2, pp. 150 - 158
Summary Background Creutzfeldt-Jakob disease (CJD) is a fatal, untreatable prion encephalopathy. Previous studies showed that doxycycline is effective in... 
Neurology | TETRACYCLINES | EFFICACY | PENTOSAN POLYSULFATE | ANTHRACYCLINE | CLINICAL-TRIALS | INFECTIVITY | CLASSIFICATION | HUMAN PRION DISEASE | QUINACRINE | DIAGNOSTIC-CRITERIA | CLINICAL NEUROLOGY | Doxycycline - adverse effects | Double-Blind Method | Humans | Middle Aged | Male | Early Termination of Clinical Trials | Creutzfeldt-Jakob Syndrome - drug therapy | Doxycycline - administration & dosage | Creutzfeldt-Jakob Syndrome - mortality | Treatment Failure | Medical Futility | Doxycycline - pharmacology | Female | Aged | Creutzfeldt-Jakob Syndrome - genetics | Neurosciences | Analysis | Creutzfeldt-Jakob disease | Doxycycline | Amyloid beta-protein | Clinical trials | Alzheimer's disease | Mutation | Drug therapy | Prions
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3. Full Text Combined Measurement of the Higgs Boson Mass in pp Collisions at sqrt[s]=7 and 8 TeV with the ATLAS and CMS Experiments
by Aad, G and Abbott, B and Abdallah, J and Abdinov, O and Aben, R and Abolins, M and AbouZeid, O S and Abramowicz, H and Abreu, H and Abreu, R and Abulaiti, Y and Acharya, B S and Adamczyk, L and Adams, D L and Adelman, J and Adomeit, S and Adye, T and Affolder, A A and Agatonovic-Jovin, T and Aguilar-Saavedra, J A and Ahlen, S P and Ahmadov, F and Aielli, G and Akerstedt, H and Åkesson, T P A and Akimoto, G and Akimov, A V and Alberghi, G L and Albert, J and Albrand, S and Alconada Verzini, M J and Aleksa, M and Aleksandrov, I N and Alexa, C and Alexander, G and Alexopoulos, T and Alhroob, M and Alimonti, G and Alio, L and Alison, J and Alkire, S P and Allbrooke, B M M and Allport, P P and Aloisio, A and Alonso, A and Alonso, F and Alpigiani, C and Altheimer, A and Alvarez Gonzalez, B and Álvarez Piqueras, D and Alviggi, M G and Amadio, B T and Amako, K and Amaral Coutinho, Y and Amelung, C and Amidei, D and Amor Dos Santos, S P and Amorim, A and Amoroso, S and Amram, N and Amundsen, G and Anastopoulos, C and Ancu, L S and Andari, N and Andeen, T and Anders, C F and Anders, G and Anders, J K and Anderson, K J and Andreazza, A and Andrei, V and Angelidakis, S and Angelozzi, I and Anger, P and Angerami, A and Anghinolfi, F and Anisenkov, A V and Anjos, N and Annovi, A and Antonelli, M and Antonov, A and Antos, J and Anulli, F and Aoki, M and Aperio Bella, L and Arabidze, G and Arai, Y and Araque, J P and Arce, A T H and Arduh, F A and Arguin, J-F and Argyropoulos, S and Arik, M and Armbruster, A J and Arnaez, O and Arnal, V and Arnold, H and Arratia, M and Arslan, O and Artamonov, A and ... and ATLAS Collaboration and CMS Collaboration
Physical review letters, ISSN 0031-9007, 05/2015, Volume 114, Issue 19, p. 191803
A measurement of the Higgs boson mass is presented based on the combined data samples of the ATLAS and CMS experiments at the CERN LHC in the H→γγ and H→ZZ→4ℓ... 
Physics - High Energy Physics - Experiment | Physics | High Energy Physics - Experiment
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4. Full Text Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
by Young, A.L and Marinescu, R.V and Oxtoby, N.P and Bocchetta, Martina and Yong, K and Firth, N.C and Cash, D.M and Thomas, David L and Dick, K.M and Cardoso, J and Swieten, John and Borroni, Barbara and Galimberti, Daniela and Masellis, Mario and Tartaglia, Maria Carmela and Rowe, James and Graff, C and Tagliavini, Fabrizio and Frisoni, Giovanni B and Laforce, Robert and Finger, Elizabeth and De Mendonça, Alexane and Sorbi, Sano and Warren, Jason and Crutch, S and Fox, Nick and Ourselin, Sebastien and Schott, J.M and Rohrer, Jonathan and Alexander, D.C and Genetic FTD Initiative GENFI and Alzheimer's Dis Neuroimaging Initi and Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Genetic FTD Initiative (GENFI) and The Genetic FTD Initiative (GENFI) and The Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Nature Communications, ISSN 2041-1723, 10/2018, Volume 9, Issue 1, pp. 4273 - 16
textabstractThe heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically... 
COGNITIVE DECLINE | REPEAT EXPANSIONS | DEMENTIA | DEFINED SUBTYPES | MULTIDISCIPLINARY SCIENCES | SPORADIC ALZHEIMERS-DISEASE | ATROPHY PATTERNS | BIOMARKER CHANGES | MODEL | FRONTOTEMPORAL LOBAR DEGENERATION | HUNTINGTONS-DISEASE | Frontotemporal Dementia - genetics | Phenotype | Reproducibility of Results | Neurodegenerative Diseases - pathology | Time Factors | Humans | Genotype | Models, Neurological | Alzheimer Disease - genetics | Alzheimer Disease - pathology | Frontotemporal Dementia - pathology | Neurodegenerative Diseases - classification | Phenotypes | Medical imaging | Disease | Neurodegenerative diseases | Medical treatment | Inference | Trajectories | Patients | Subgroups | Complexity | Diseases | Neurological diseases | Heterogeneity | Learning algorithms | Neurodegeneration | Machine learning | Dementia disorders | Diagnostic systems | Frontotemporal dementia | Genotypes
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5. Full Text Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features
by Giaccone, Giorgio and Morbin, Michela and Moda, Fabio and Botta, Mario and Mazzoleni, Giulia and Uggetti, Andrea and Catania, Marcella and Moro, Maria Luisa and Redaelli, Veronica and Spagnoli, Alberto and Rossi, Roberta Simona and Salmona, Mario and Di Fede, Giuseppe and Tagliavini, Fabrizio
Acta Neuropathologica, ISSN 0001-6322, 12/2010, Volume 120, Issue 6, pp. 803 - 812
Mutations of three different genes, encoding β-amyloid precursor protein (APP), presenilin 1 and presenilin 2 are associated with familial Alzheimer’s disease... 
Pathology | Neurosciences | Medicine & Public Health | Alzheimer’s disease | APP mutation | Neuropathology | Genetic | Recessive | Alzheimer's disease | PHENOTYPE | PATHOLOGY | NEUROSCIENCES | PRECURSOR PROTEIN MUTATION | CLINICAL NEUROLOGY | SENILE PLAQUES | FAMILY | VARIABILITY | A beta | GENE | AMYLOID ANGIOPATHY | BETA-DEPOSITION | HEREDITARY CEREBRAL-HEMORRHAGE | Genetic Predisposition to Disease - genetics | Genes, Recessive - genetics | Humans | Middle Aged | Male | Alzheimer Disease - pathology | Amyloid beta-Protein Precursor - ultrastructure | Amyloid beta-Protein Precursor - genetics | Alanine - genetics | Amyloid beta-Peptides - genetics | Amyloid beta-Peptides - ultrastructure | Alzheimer Disease - metabolism | Amyloid beta-Peptides - metabolism | Amino Acid Substitution - genetics | Valine - genetics | Alzheimer Disease - genetics | Genetic aspects | Amyloid beta-protein
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6. Full Text Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: A GENFI study
by Premi, E and Grassi, M and Swieten, John and Galimberti, Daniela and Graff, C and Masellis, Mario and Tartaglia, C and Tagliavini, F and Rowe, James and Laforce, Robert and Finger, Elizabeth and Frisoni, Giovanni B and De Mendonça, Alexane and Sorbi, Sano and Gazzina, S and Cosseddu, M and Archetti, S and Gasparotti, R and Manes, M and Alberici, Paola and Cardoso, Manuel Jorge and Bocchetta, M and Cash, D.M and Ourselin, Sebastien and Padovani, Alessano and Rohrer, Jonathan and Borroni, Barbara and Genetic FTD Initiative GENFI and Genetic FTD Initiative (GENFI) and on behalf of the Genetic FTD Initiative (GENFI) and GENFI consortium members
Brain: a journal of neurology, ISSN 0006-8950, 01/2017, Volume 140, Issue 6, pp. 1784 - 1791
textabstractFrontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is... 
Cognitive reserve | Structural MRI | Genetics | TMEM106b | Frontotemporal dementia | structural MRI | LOBAR DEGENERATION | ALZHEIMERS-DISEASE | MUTATION CARRIERS | cognitive reserve | frontotemporal dementia | RISK | EDUCATION | C9ORF72 | NEUROSCIENCES | CLINICAL NEUROLOGY | genetics | CONNECTIVITY | FTD | SEGMENTATION | HEXANUCLEOTIDE REPEAT | Frontotemporal Dementia - genetics | Frontotemporal Dementia - physiopathology | Frontotemporal Dementia - diagnostic imaging | Membrane Proteins - genetics | Humans | Middle Aged | Atrophy - pathology | Genotype | Male | Educational Status | Prodromal Symptoms | Nerve Tissue Proteins - genetics | Gray Matter - diagnostic imaging | Polymorphism, Genetic | Magnetic Resonance Imaging | Adult | Female | Cognitive Reserve - physiology | Cohort Studies | Editor's Choice | Original
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7. Full Text Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
by Karch, Celeste M and Ezerskiy, Lubov and Redaelli, Veronica and Giovagnoli, Anna Rita and Tiraboschi, Pietro and Pelliccioni, Giuseppe and Pelliccioni, Paolo and Kapetis, Dimos and D'Amato, Ilaria and Piccoli, Elena and Ferretti, Maria Giulia and Tagliavini, Fabrizio and Rossi, Giacomina
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 38, pp. 215.e1 - 215.e12
Abstract GRN , the gene coding for the progranulin (PGRN) protein, was recognized as a gene linked to frontotemporal lobar degeneration (FTLD). The first... 
Neurology | Internal Medicine | Frontotemporal lobar degeneration | GRN | Functional analysis | Progranulin | Mutation | Pathogenetic | CRITERIA | DEMENTIA | REPEAT | INFORMATION | OUTGROWTH | NEUROSCIENCES | FAMILY | GERIATRICS & GERONTOLOGY | REPAIR | DISEASES | CHROMOSOME-17 | SECRETION | Intercellular Signaling Peptides and Proteins - analysis | Frontotemporal Lobar Degeneration - pathology | Genetic Association Studies | Humans | Middle Aged | Intercellular Signaling Peptides and Proteins - genetics | Gene Dosage | Cellobiose - analogs & derivatives | Mutation, Missense - genetics | HEK293 Cells | Aged, 80 and over | Adult | Female | Aged | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Algorithms | Segregation | Analysis | Genes | Genetic research | Physiological aspects | Genetic aspects | pathogenetic | progranulin | mutation | functional analysis | frontotemporal lobar degeneration
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8. Full Text Multicentre, cross-cultural, population-based, case–control study of physical activity as risk factor for amyotrophic lateral sclerosis
by Visser, Anne E and Rooney, James P K and D’Ovidio, Fabrizio and Westeneng, Henk-Jan and Vermeulen, Roel C H and Beghi, Ettore and Chiò, Adriano and Logroscino, Giancarlo and Hardiman, Orla and Veldink, Jan H and van den Berg, Leonard H and Euro-MOTOR Consortium and Euro-MOTOR consortium
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2018, Volume 89, Issue 8, pp. 797 - 803
ObjectiveTo investigate the association between physical activity (PA) and amyotrophic lateral sclerosis (ALS) in population-based case–control studies in... 
MORTALITY | SURGERY | PSYCHIATRY | ALS | C9ORF72 | CLINICAL NEUROLOGY | PROSPECTIVE COHORT | SPORTS | DISEASE | MOTOR | PROFESSIONAL SOCCER PLAYERS | HEXANUCLEOTIDE REPEAT | EXPOSURE | Solvents | Soccer | Mortality | Hydrocarbons | Amyotrophic lateral sclerosis | Alcohol | Systematic review | Metabolism | Studies | Questionnaires | Population | Psychiatry | Smoking
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