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science & technology (22) 22
amyotrophic lateral sclerosis (21) 21
life sciences & biomedicine (21) 21
neurosciences & neurology (20) 20
humans (18) 18
amyotrophic lateral sclerosis - genetics (17) 17
neurosciences (16) 16
female (14) 14
male (14) 14
middle aged (11) 11
neurology (11) 11
clinical neurology (10) 10
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als (8) 8
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aged (7) 7
geriatrics & gerontology (7) 7
mutation (7) 7
analysis (6) 6
internal medicine (6) 6
adult (5) 5
c9orf72 (5) 5
c9orf72 protein (5) 5
frontotemporal dementia (5) 5
genes (5) 5
medical research (5) 5
proteins - genetics (5) 5
risk factors (5) 5
amyotrophic lateral sclerosis - pathology (4) 4
italy (4) 4
medical genetics (4) 4
medicine, experimental (4) 4
mutation - genetics (4) 4
nervous system diseases (4) 4
research (4) 4
settore bio/12 - biochimica clinica e biologia molecolare clinica (4) 4
settore med/26 - neurologia (4) 4
biological and medical sciences (3) 3
c9orf72 protein - genetics (3) 3
data processing (3) 3
dna repeat expansion - genetics (3) 3
dna-binding proteins - genetics (3) 3
frontotemporal dementia - genetics (3) 3
gene mutations (3) 3
genetic association studies (3) 3
genetic predisposition to disease (3) 3
genetic predisposition to disease - genetics (3) 3
genetics (3) 3
medical and health sciences (3) 3
medicin och hälsovetenskap (3) 3
medicine & public health (3) 3
motor neuron disease (3) 3
mutation analysis (3) 3
neuroradiology (3) 3
phosphorylation (3) 3
polymorphism, single nucleotide (3) 3
age of onset (2) 2
aged, 80 and over (2) 2
aging (2) 2
amyotrophic lateral sclerosis - cerebrospinal fluid (2) 2
amyotrophic lateral sclerosis - complications (2) 2
amyotrophic lateral sclerosis - diagnosis (2) 2
amyotrophic lateral sclerosis - metabolism (2) 2
basal ganglia diseases - genetics (2) 2
basic medicine (2) 2
biomarkers (2) 2
brain - pathology (2) 2
case-control studies (2) 2
cell cycle proteins - genetics (2) 2
cerebrospinal fluid (2) 2
de novo mutations (2) 2
dementia (2) 2
development and progression (2) 2
disease pathway (2) 2
dna mutational analysis (2) 2
european continental ancestry group - genetics (2) 2
fundamental and applied biological sciences. psychology (2) 2
gene polymorphism (2) 2
genetic research (2) 2
genetic testing (2) 2
genomes (2) 2
health aspects (2) 2
italy - epidemiology (2) 2
medical sciences (2) 2
medicinsk genetik (2) 2
medicinska och farmaceutiska grundvetenskaper (2) 2
motor neurons (2) 2
movement disorders (2) 2
nervous system (2) 2
neurodegenerative diseases (2) 2
neuropsychological tests (2) 2
profilin 1 (2) 2
profilins - genetics (2) 2
psychiatry (2) 2
repeat expansion (2) 2
rna-binding protein fus - genetics (2) 2
settore med/03 - genetica medica (2) 2
single-nucleotide polymorphism (2) 2
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superoxide dismutase - genetics (2) 2
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1. Full Text Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
by Wu, Chi-Hong and Fallini, Claudia and Ticozzi, Nicola and Keagle, Pamela J and Sapp, Peter C and Piotrowska, Katarzyna and Lowe, Patrick and Koppers, Max and McKenna-Yasek, Diane and Baron, Desiree M and Kost, Jason E and Gonzalez-Perez, Paloma and Fox, Andrew D and Adams, Jenni and Taroni, Franco and Tiloca, Cinzia and Leclerc, Ashley Lyn and Chafe, Shawn C and Mangroo, Dev and Moore, Melissa J and Zitzewitz, Jill A and Xu, Zuo-Shang and Van Den Berg, Leonard H and Glass, Jonathan D and Siciliano, Gabriele and Cirulli, Elizabeth T and Goldstein, David B and Salachas, Francois and Meininger, Vincent and Rossoll, Wilfried and Ratti, Antonia and Gellera, Cinzia and Bosco, Daryl A and Bassell, Gary J and Silani, Vincenzo and Drory, Vivian E and Brown Jr, Robert H and Landers, John E
Nature (London), ISSN 0028-0836, 08/2012, Volume 488, Issue 7412, pp. 499 - 503
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Humans | Actins - metabolism | Amyotrophic Lateral Sclerosis - diagnosis | Molecular Sequence Data | Male | Jews - genetics | Ubiquitination | Profilins - genetics | Motor Neurons - cytology | Female | Amino Acid Sequence | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Cells, Cultured | Mutant Proteins - genetics | Axons - metabolism | Models, Molecular | Mutant Proteins - metabolism | Mutation - genetics | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Exome - genetics | Animals | Growth Cones - metabolism | Pedigree | Axons - pathology | Amyotrophic Lateral Sclerosis - metabolism | Protein Conformation | High-Throughput Nucleotide Sequencing | Mice | Profilins - metabolism | Amyotrophic lateral sclerosis | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Proteins | Genomes | Polypeptides | Mutation | Pathogenesis | Genes | Index Medicus
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2. Full Text TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
by Pensato, Viviana and Tiloca, Cinzia and Corrado, Lucia and Bertolin, Cinzia and Sardone, Valentina and Del Bo, Roberto and Calini, Daniela and Mandrioli, Jessica and Lauria, Giuseppe and Mazzini, Letizia and Querin, Giorgia and Ceroni, Mauro and Cantello, Roberto and Corti, Stefania and Castellotti, Barbara and Soldà, Giulia and Duga, Stefano and Comi, Giacomo P and Cereda, Cristina and Sorarù, Gianni and D’Alfonso, Sandra and Taroni, Franco and Shaw, Christopher E and Landers, John E and Ticozzi, Nicola and Ratti, Antonia and Gellera, Cinzia and Silani, Vincenzo and SLAGEN Consortium and The SLAGEN Consortium
Journal of neurology, ISSN 0340-5354, 5/2015, Volume 262, Issue 5, pp. 1376 - 1378
Neurology | Neurosciences | Medicine & Public Health | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | DNA Mutational Analysis | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Female | Male | Tubulin - genetics | Mutation - genetics | Index Medicus
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3. Full Text Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
by Gellera, Cinzia and Tiloca, Cinzia and Del Bo, Roberto and Corrado, Lucia and Pensato, Viviana and Agostini, Jennifer and Cereda, Cristina and Ratti, Antonia and Castellotti, Barbara and Corti, Stefania and Bagarotti, Alessandra and Cagnin, Annachiara and Milani, Pamela and Gabelli, Carlo and Riboldi, Giulietta and Mazzini, Letizia and Sorarù, Gianni and D'Alfonso, Sandra and Taroni, Franco and Comi, Giacomo Pietro and Ticozzi, Nicola and Silani, Vincenzo and SLAGEN Consortium
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 2013, Volume 84, Issue 2, pp. 183 - 187
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Neurology | Biological and medical sciences | Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis | Medical sciences | Frontotemporal Dementia - genetics | European Continental Ancestry Group - genetics | Ubiquitins - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Amyotrophic Lateral Sclerosis - diagnosis | Male | Amyotrophic Lateral Sclerosis - complications | Frontotemporal Dementia - complications | Cell Cycle Proteins - genetics | Female | Italy | Mutation | Usage | Medical examination | Gene mutations | Mentally disabled persons | Neuropsychological tests | Causes of | Amyotrophic lateral sclerosis | Genetic aspects | Research | Frontotemporal dementia | Dementia | Index Medicus
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4. Full Text Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis
by Verde, Federico and Zaina, Gloria and Bodio, Caterina and Borghi, Maria Orietta and Soranna, Davide and Peverelli, Silvia and Ticozzi, Nicola and Morelli, Claudia and Doretti, Alberto and Messina, Stefano and Maderna, Luca and Colombrita, Claudia and Gumina, Valentina and Tiloca, Cinzia and Meroni, Pier Luigi and Zambon, Antonella and Ratti, Antonia and Silani, Vincenzo
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 8/2020, Volume 92, Issue 2, pp. 221 - 223
Biomarkers | Amyotrophic lateral sclerosis | Motor neurone disease | Laboratories | Womens health | Biobanks | Index Medicus
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5. Full Text C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
by Ratti, Antonia and Corrado, Lucia and Castellotti, Barbara and Del Bo, Roberto and Fogh, Isabella and Cereda, Cristina and Tiloca, Cinzia and D'Ascenzo, Carla and Bagarotti, Alessandra and Pensato, Viviana and Ranieri, Michela and Gagliardi, Stella and Calini, Daniela and Mazzini, Letizia and Taroni, Franco and Corti, Stefania and Ceroni, Mauro and Oggioni, Gaia D and Lin, Kuang and Powell, John F and Sorarù, Gianni and Ticozzi, Nicola and Comi, Giacomo P and D'Alfonso, Sandra and Gellera, Cinzia and Silani, Vincenzo and SLAGEN Consortium
Neurobiology of aging, ISSN 0197-4580, 2012, Volume 33, Issue 10, pp. 2528.e7 - 2528.e14
Neurology | Internal Medicine | Amyotrophic lateral sclerosis | Repeat expansion | Mutation analysis | Frontotemporal dementia | Haplotype analysis | C9ORF72 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Genetic Testing | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Male | Risk | Proteins - genetics | Founder Effect | Haplotypes - genetics | Cerebellar Diseases - genetics | Basal Ganglia Diseases - genetics | Age of Onset | Sex Factors | Adult | Cognitive Dysfunction - genetics | Female | Aged | C9orf72 Protein | Polymorphism, Single Nucleotide | Cohort Studies | Analysis | Genes | Universities and colleges | Risk factors | Dementia | Index Medicus | Cerebellum | Haplotypes | Extrapyramidal system | Cognitive ability | Data processing | Nervous system | Nucleotides | Founder effect | Gene polymorphism | Survival | Aging | Mutation
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6. Full Text The role of de novo mutations in the development of amyotrophic lateral sclerosis
by Doormaal, Perry T.C and Ticozzi, Nicola and Weishaupt, Jochen H and Kenna, Kevin and Diekstra, Frank P and Verde, Federico and Andersen, Peter M and Dekker, Annelot M and Tiloca, Cinzia and Marroquin, Nicolai and Overste, Daniel J and Pensato, Viviana and Nürnberg, Peter and Pulit, Sara L and Schellevis, Raymond D and Calini, Daniela and Altmüller, Janine and Francioli, Laurent C and Muller, Bernard and Castellotti, Barbara and Motameny, Susanne and Ratti, Antonia and Wolf, Joachim and Gellera, Cinzia and Ludolph, Albert C and den Berg, Leonard H and Kubisch, Christian and Landers, John E and Veldink, Jan H and Silani, Vincenzo and Volk, Alexander E
Human mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1534 - 1541
ALS | disease pathway | motor neuron disease | amyotrophic lateral sclerosis | de novo mutations | trios | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | C9orf72 Protein - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Humans | Databases, Genetic | Male | Mutation Rate | Case-Control Studies | Protein Interaction Mapping | Protein Interaction Maps | Whole Exome Sequencing | Whole Genome Sequencing | Alleles | Amyotrophic Lateral Sclerosis - metabolism | Female | Mutation | Amino Acid Substitution | Medical research | Nervous system diseases | Analysis | Genes | Genetic research | Medicine, Experimental | Amyotrophic lateral sclerosis | Genetic aspects | Social aspects | Data processing | Hypotheses | Index Medicus
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7. Full Text Mutations in the vesicular trafficking protein Annexin A11 are associated with amyotrophic lateral sclerosis Bradley N. Smith
by Topp, Simon D and Fallini, Claudia and Shibata, Hideki and Chen, Han-Jou and Troakes, Claire and King, Andrew and Ticozzi, Nicola and Kenna, Kevin P and Soragia-Gkazi, Athina and Miller, Jack W and Sato, Akane and Dias, Diana Marques and Jeon, Maryangel and Vance, Caroline and Wong, Chun Hao and De Majo, Martina and Kattuah, Wejdan and Mitchell, Jacqueline C and Scotter, Emma L and Parkin, Nicholas W and Sapp, Peter C and Nolan, Matthew and Nestor, Peter J and Simpson, Michael and Weale, Michael and Lek, Monkel and Baas, Frank and De Jong, J. M. Vianney and Ten Asbroek, Anneloor L.M.A and Redondo, Alberto Garcia and Esteban-Pérez, Jesús and Tiloca, Cinzia and Verde, Federico and Duga, Stefano and Leigh, Nigel and Pall, Hardev and Morrison, Karen E and Al-Chalabi, Ammar and Shaw, Pamela J and Kirby, Janine and Turner, Martin R and Talbot, Kevin and Hardiman, Orla and Glass, Jonathan D and De Belleroche, Jacqueline and Maki, Masatoshi and Moss, Stephen E and Miller, Christopher and Gellera, Cinzia and Ratti, Antonia and Al-Sarraj, Safa and Brown, Robert H and Silani, Vincenzo and Landers, John E and Shaw, Christopher E
Science translational medicine, ISSN 1946-6234, 05/2017, Volume 9, Issue 388
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8. Full Text ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
by de Majo, Martina and Topp, Simon D and Smith, Bradley N and Nishimura, Agnes L and Chen, Han-Jou and Gkazi, Athina Soragia and Miller, Jack and Wong, Chun Hao and Vance, Caroline and Baas, Frank and ten Asbroek, Anneloor L.M.A and Kenna, Kevin P and Ticozzi, Nicola and Redondo, Alberto Garcia and Esteban-Pérez, Jesús and Tiloca, Cinzia and Verde, Federico and Duga, Stefano and Morrison, Karen E and Shaw, Pamela J and Kirby, Janine and Turner, Martin R and Talbot, Kevin and Hardiman, Orla and Glass, Jonathan D and de Belleroche, Jacqueline and Gellera, Cinzia and Ratti, Antonia and Al-Chalabi, Ammar and Brown, Robert H and Silani, Vincenzo and Landers, John E and Shaw, Christopher E
Neurobiology of aging, ISSN 0197-4580, 11/2018, Volume 71, pp. 266.e1 - 266.e10
ALS | Familial ALS | TBK1 | WES | FTD | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Protein Structure, Tertiary | Phosphorylation | Genetic Association Studies | Exons | Amyotrophic Lateral Sclerosis - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Transcription Factor TFIIIA - genetics | Male | Codon, Nonsense | Mutation, Missense | Interferon Regulatory Factor-3 - genetics | Protein Binding | Female | Protein-Serine-Threonine Kinases - chemistry | Medical colleges | Medical research | Analysis | Genomics | Medical genetics | Medicine, Experimental | Genetic aspects | Index Medicus
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9. Full Text Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
by Tiloca, Cinzia and Ticozzi, Nicola and Pensato, Viviana and Corrado, Lucia and Del Bo, Roberto and Bertolin, Cinzia and Fenoglio, Chiara and Gagliardi, Stella and Calini, Daniela and Lauria, Giuseppe and Castellotti, Barbara and Bagarotti, Alessandra and Corti, Stefania and Galimberti, Daniela and Cagnin, Annachiara and Gabelli, Carlo and Ranieri, Michela and Ceroni, Mauro and Siciliano, Gabriele and Mazzini, Letizia and Cereda, Cristina and Scarpini, Elio and Sorarù, Gianni and Comi, Giacomo P and D'Alfonso, Sandra and Gellera, Cinzia and Ratti, Antonia and Landers, John E and Silani, Vincenzo and The SLAGEN Consortium and SLAGEN Consortium
Neurobiology of aging, ISSN 0197-4580, 2013, Volume 34, Issue 5, pp. 1517.e9 - 1517.e10
Neurology | Internal Medicine | Profilin 1 | Amyotrophic lateral sclerosis | Mutation analysis | Frontotemporal dementia | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Frontotemporal Dementia - genetics | Prevalence | Comorbidity | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Risk Factors | Male | Profilins - genetics | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | Female | Italy - epidemiology | Frontotemporal Dementia - epidemiology | Amyotrophic Lateral Sclerosis - epidemiology | Nervous system diseases | Actin | Analysis | Genetic aspects | Muscle proteins | Public health | Index Medicus | Growth cones | profilin | Neurodegenerative diseases | Aging | Cytoskeleton | Data processing | Nervous system | pfn1 gene | Mutation
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10. Full Text PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival
by Verde, Federico and Tiloca, Cinzia and Morelli, Claudia and Doretti, Alberto and Poletti, Barbara and Maderna, Luca and Messina, Stefano and Gentilini, Davide and Fogh, Isabella and Ratti, Antonia and Silani, Vincenzo and Ticozzi, Nicola
Neurological sciences, ISSN 1590-1874, 7/2019, Volume 40, Issue 7, pp. 1469 - 1473
Neurology | Motor neurons | Medicine & Public Health | SNP | Toxicity | PON1 | ALS | Neurosurgery | Paraoxonase | Psychiatry | Neuroradiology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Age of Onset | Female | Male | Amyotrophic Lateral Sclerosis - enzymology | Polymorphism, Single Nucleotide | Aryldialkylphosphatase - genetics | Amyotrophic Lateral Sclerosis - mortality | Cohort Studies | Oxidative stress | Phenotypes | Coding | Paraoxonase 1 | Amyotrophic lateral sclerosis | Single-nucleotide polymorphism | Gene polymorphism | Index Medicus
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11. Full Text The LRRK2 variant E193K prevents mitochondrial fission upon MPP+ treatment by altering LRRK2 binding to DRP1
by Perez Carrion, Maria and Pischedda, Francesca and Biosa, Alice and Russo, Isabella and Straniero, Letizia and Civiero, Laura and Guida, Marianna and Gloeckner, Christian J and Ticozzi, Nicola and Tiloca, Cinzia and Mariani, Claudio and Pezzoli, Gianni and Duga, Stefano and Pichler, Irene and Pan, Lifeng and Landers, John E and Greggio, Elisa and Hess, Michael W and Goldwurm, Stefano and Piccoli, Giovanni
Frontiers in molecular neuroscience, ISSN 1662-5099, 02/2018, Volume 11, pp. 64 - 64
Mitochondria | Protein interaction | LRRK2 | Parkinson’s disease | DRP1 | Parkinson's disease | Gene mutations | Cellular control mechanisms | Cell division | Genetic aspects | Health aspects | Risk factors | Phosphorylation | Neurosciences | Disease | Neurodegenerative diseases | Leucine | MPP | Kinases | Autophagy | Thrombosis | Neurotoxicity | Mutagenesis | N-Terminus | Atherosclerosis | Fibroblasts | Mutation | LRRK2 protein | Age | Movement disorders | Deoxyribonucleic acid--DNA | protein interaction | mitochondria
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12. Full Text Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
by Tiloca, Cinzia and Ratti, Antonia and Pensato, Viviana and Castucci, Alessia and Sorarù, Gianni and Del Bo, Roberto and Corrado, Lucia and