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المؤلفون: Sabrina A.M. Curcio, Raffaele Maletta, Maria Mirabelli, Livia Bernardi, Nicoletta Smirne, Francesca Frangipane, Alessandra Clodomiro, Maura Gallo, Franca Vasso, Gianfranco Puccio, Amalia C. Bruni, Maria Gabriella Muraca, Chiara Cupidi, Raffaele Di Lorenzo, Maria Elena Conidi, Andrea Dardis, Milena Romanello, Maria Anfossi, Giusi Torchia, Rosanna Colao, Stefania Zampieri
المصدر: Journal of Alzheimer's Disease. 55:1249-1259
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Vesicular Transport Proteins, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Niemann-Pick C1 Protein, hemic and lymphatic diseases, medicine, Animals, Humans, Dementia, Missense mutation, Gene, Aged, Glycoproteins, Tomography, Emission-Computed, Single-Photon, Mutation, Membrane Glycoproteins, business.industry, General Neuroscience, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Brain, nutritional and metabolic diseases, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Immunology, Female, Geriatrics and Gerontology, NPC1, Carrier Proteins, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df49c1d909c517477b43e21b873f55ec
https://doi.org/10.3233/jad-160214 -
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المؤلفون: Maria Gabriella Muraca, Livia Bernardi, Franca Vasso, Giuseppe Passarino, Raffaele Maletta, Alberto Montesanto, Giusi Torchia, Maria Elena Conidi, Rosanna Colao, Amalia C. Bruni, Nicoletta Smirne, Chiara Cupidi, Raffaele Di Lorenzo, Maura Gallo, Valentina Laganà, Sabrina A.M. Curcio, Francesca Frangipane, Gianfranco Puccio, Maria Anfossi, Giuseppina Rose, Maria Mirabelli
المصدر: Journal of Alzheimer's disease : JAD. 61(3)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Population, Apolipoprotein E4, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Alzheimer Disease, Risk Factors, Internal medicine, medicine, Dementia, Humans, Risk factor, Vascular dementia, education, Allele frequency, Aged, Aged, 80 and over, education.field_of_study, Polymorphism, Genetic, business.industry, General Neuroscience, Dementia, Vascular, Case-control study, General Medicine, Middle Aged, medicine.disease, Cholesterol Ester Transfer Proteins, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Italy, Case-Control Studies, Frontotemporal Dementia, Female, Geriatrics and Gerontology, Alzheimer's disease, business, 030217 neurology & neurosurgery, Frontotemporal dementia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df336e81a258ccfa4593c0072345f70f
https://pubmed.ncbi.nlm.nih.gov/29332048 -
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المؤلفون: Nicoletta Smirne, Maura Gallo, Livia Bernardi, Maria Anfossi, Annamaria Confaloni, Giusi Torchia, Paola Piscopo, Maria Elena Conidi, Francesca Frangipane, Chiara Cupidi, Raffaele Di Lorenzo, Alessandra Clodomiro, Raffaele Maletta, Amalia C Bruni, Maria Gabriella Muraca, Sabrina A.M. Curcio, Maria Mirabelli, Gianfranco Puccio, Paola Mandich, Rosanna Colao, Franca Vasso
المصدر: Neurology. 84:2266-2273
مصطلحات موضوعية: Male, Apolipoprotein E, Heterozygote, Disease, Biology, Asymptomatic, Article, Amyloid beta-Protein Precursor, Alzheimer Disease, medicine, Humans, Aged, Dominance (genetics), Genetics, TREM2, Homozygote, Heterozygote advantage, Middle Aged, medicine.disease, Phenotype, Pedigree, Mutation, Female, Neurology (clinical), Alzheimer's disease, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b673687133f9a5772e59b8137e5380c4
https://doi.org/10.1212/wnl.0000000000001648 -
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المؤلفون: Maria Elena Conidi, Maria Anfossi, Franca Vasso, Francesca Frangipane, Sabrina A.M. Curcio, Alessandra Clodomiro, Maura Gallo, Nicoletta Smirne, Raffaele Maletta, Gianfranco Puccio, Raffaele Di Lorenzo, Maria Mirabelli, Livia Bernardi, Amalia C. Bruni, Rosanna Colao
المصدر: Journal of Alzheimer's Disease. 37:285-289
مصطلحات موضوعية: Adult, Male, Apolipoprotein E, medicine.medical_specialty, Pathology, Psen1 mutation, Genotype, Disease, Neuropsychological Tests, Memory performance, Gastroenterology, Methionine, Alzheimer Disease, Leucine, Internal medicine, Mitochondrial Precursor Protein Import Complex Proteins, Presenilin-1, medicine, PSEN1, Humans, Genetic Predisposition to Disease, In patient, Age of Onset, Memory Disorders, Polymorphism, Genetic, business.industry, General Neuroscience, Membrane Transport Proteins, General Medicine, Middle Aged, Psychiatry and Mental health, Clinical Psychology, Mutation, Female, Geriatrics and Gerontology, Age of onset, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::372a04c08cb61f08c851f403d637964e
https://doi.org/10.3233/jad-130119 -
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المؤلفون: Livia Bernardi, Carmine Tomaino, Nicoletta Smirne, Sabrina A.M. Curcio, Franca Vasso, Raffaele Maletta, Maria Anfossi, Rosanna Colao, Maria Mirabelli, Francesca Frangipane, Gianfranco Puccio, Amalia C. Bruni, Maura Gallo, Silvana Geracitano
المصدر: Journal of Alzheimer's Disease. 17:383-389
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Apolipoprotein E4, DNA Mutational Analysis, Neuropathology, Neuropsychological Tests, Gene mutation, Amyloid beta-Protein Precursor, Alzheimer Disease, Risk Factors, Activities of Daily Living, medicine, Humans, Dementia, Family history, Stroke, Aged, Aged, 80 and over, Family Health, business.industry, General Neuroscience, Exons, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Cerebrovascular Disorders, Psychiatry and Mental health, Clinical Psychology, Italy, Genetic epidemiology, Mutation, Female, Cerebral amyloid angiopathy, Geriatrics and Gerontology, Alzheimer's disease, Mental Status Schedule, Tomography, X-Ray Computed, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96412cfe63aca7029cabf074060c93fa
https://doi.org/10.3233/jad-2009-1061 -
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المؤلفون: Francesca Frangipane, Camilla Ferrari, Raffaele Maletta, Sandro Sorbi, Sabrina A.M. Curcio, Maria Mirabelli, Matteo De Bartolo, Maria Anfossi, Maura Gallo, Amalia C. Bruni, Franca Vasso, Rosanna Colao, Valentina Laganà, Giuliana Grimaldi, Sabina Turone, Chiara Cupidi, Raffaele Di Lorenzo, Maristella Piccininni, Andrea Tedde, Giusi Torchia, Maria Elena Conidi, Nicoletta Smirne, Livia Bernardi, Benedetta Nacmias, Maria Gabriella Muraca, Gianfranco Puccio
المصدر: Neurobiology of Aging. 56:213.e7-213.e12
مصطلحات موضوعية: Male, 0301 basic medicine, Aging, Cerebellum, Psychosis, Pathology, medicine.medical_specialty, Neuroimaging, Presenilin, Executive Function, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Alzheimer Disease, Presenilin-1, medicine, PSEN1, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Aged, Genes, Dominant, Cerebral Cortex, Dysexecutive syndrome, General Neuroscience, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Psychotic Disorders, Mutation, Paraparesis, Spastic, Female, Cerebellar atrophy, Neurology (clinical), Geriatrics and Gerontology, Alzheimer's disease, Psychology, 030217 neurology & neurosurgery, Developmental Biology
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المؤلفون: Sabrina A.M. Curcio, Francesca Frangipane, Raffaele Maletta, Maria Mirabelli, Nicoletta Smirne, Maria Elena Conidi, Franca Vasso, Chiara Cupidi, Raffaele Di Lorenzo, Maria Anfossi, Alessandra Clodomiro, Maura Gallo, Livia Bernardi, Gianfranco Puccio, Amalia C. Bruni, Rosanna Colao
المصدر: Neurobiology of aging. 35(11)
مصطلحات موضوعية: Male, Aging, Amyloid, Prions, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, medicine, Missense mutation, Dementia, Humans, Genetic Testing, Genetic Association Studies, Aged, Genetics, Mutation, General Neuroscience, Parkinsonism, Frontotemporal lobar degeneration, Syndrome, Middle Aged, medicine.disease, nervous system diseases, Protein Structure, Tertiary, Female, Neurology (clinical), Geriatrics and Gerontology, Frontotemporal Lobar Degeneration, Developmental Biology, Frontotemporal dementia
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المؤلفون: Sabrina A.M. Curcio, M. Elena Conidi, Giusi Torchia, Maria Mirabelli, Raffaele Maletta, Gianfranco Puccio, Rosanna Colao, Maura Gallo, Franca Vasso, Alessandra Clodomiro, Livia Bernardi, Amalia C. Bruni, Maria Anfossi, Francesca Frangipane, Raffaele Di Lorenzo, Nicoletta Smirne
المصدر: Journal of Alzheimer's disease : JAD. 38(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Parkinson's disease, Genotype, Population, Disease, Protein Serine-Threonine Kinases, medicine.disease_cause, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gastroenterology, Severity of Illness Index, Population Groups, Internal medicine, Medicine, Dementia, Missense mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Aged, Genetics, education.field_of_study, Mutation, business.industry, General Neuroscience, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, LRRK2, nervous system diseases, Psychiatry and Mental health, Clinical Psychology, Italy, Cohort, Female, Geriatrics and Gerontology, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3c3ac55f26f0bb0e2e4f7012f46d77
https://pubmed.ncbi.nlm.nih.gov/23963289 -
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المؤلفون: Silvana Geracitano, Giorgio Giaccone, Orso Bugiani, Gabriella Muraca, Fabrizio Tagliavini, Francesca Frangipane, Raffaele Di Lorenzo, Raffaele Maletta, Alessandra Clodomiro, Rosanna Colao, Enrico Ghidoni, Franca Vasso, Maria Anfossi, Norina Marcello, Livia Bernardi, Gianfranco Puccio, Amalia C. Bruni, Maria Mirabelli, Nicoletta Smirne, Maura Gallo, Sabrina A.M. Curcio
المصدر: Journal of Alzheimer's disease : JAD. 25(3)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Neuropathology, Gene mutation, Biology, Presenilin, Atrophy, Alzheimer Disease, medicine, PSEN1, Presenilin-1, Verbal fluency test, Humans, Genetic Predisposition to Disease, Isoleucine, Aged, Family Health, Amyloid beta-Peptides, General Neuroscience, Neurodegeneration, Brain, Valine, General Medicine, Middle Aged, medicine.disease, Psychiatry and Mental health, Clinical Psychology, Phenotype, Mutation, Female, Geriatrics and Gerontology, Alzheimer's disease, Mental Status Schedule
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d657c41a91d3ec16e84ba7b35c3483f
https://pubmed.ncbi.nlm.nih.gov/21422519 -
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المؤلفون: Carmine Tomaino, Francesca Frangipane, Gianfranco Puccio, Franca Vasso, Maria Mirabelli, Rosanna Colao, Maura Gallo, Silvana Geracitano, Raffaele Maletta, Livia Bernardi, Sabrina A.M. Curcio, Amalia C. Bruni, Maria Anfossi, Nicoletta Smirne
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 31(1)
مصطلحات موضوعية: Adult, Male, Mutation, Missense, tau Proteins, Dermatology, Disease, Biology, Presenilin, mental disorders, PSEN2, Presenilin-2, medicine, Humans, Family, Age of Onset, Genetics, Siblings, Neurodegeneration, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, Phenotype, nervous system diseases, Pedigree, Psychiatry and Mental health, Frontotemporal Dementia, Mutation (genetic algorithm), Female, Neurology (clinical), Age of onset, Frontotemporal dementia
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