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Research Output 2004 2019

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2019

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142 , (10), p. 2965-78 14 p.

Research output: Contribution to journalArticle

Globus Pallidus
Homeobox Genes
Putamen
Basal Ganglia
Mutation

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

A Novel Nonsense Angiogenin Mutation is Associated with Alzheimer Disease: Alzheimer Disease and Associated Disorders

Gagliardi, S., Davin, A., Bini, P., Sinforiani, E., Poloni, T. E., Polito, L., Rivoiro, C., Binetti, G., Paterlini, A., Benussi, L., Ghidoni, R., Vanacore, N. & Cereda, C., 2019, In : Alzheimer Dis. Assoc. Disord.. 33, 2, p. 163-165 3 p.

Research output: Contribution to journalArticle

Bioink Composition and Printing Parameters for 3D Modeling Neural Tissue

Fantini, V., Bordoni, M., Scocozza, F., Conti, M., Scarian, E., Carelli, S., Di Giulio, A. M., Marconi, S., Pansarasa, O., Auricchio, F. & Cereda, C., Aug 5 2019, In : Cells. 8, 8

Research output: Contribution to journalArticle

Neurodegenerative diseases
Stem cells
Printing
Induced Pluripotent Stem Cells
Bioprinting

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Ferraro, R. M., Masneri, S., Lanzi, G., Barisani, C., Piovani, G., Savio, G., Cattalini, M., Galli, J., Cereda, C., Muzi-Falconi, M., Orcesi, S., Fazzi, E. & Giliani, S., 2019, In : Stem Cell Research. 41, p. 101620

Research output: Contribution to journalArticle

Aicardi Syndrome
Fibroblasts
Sendai virus
Germ Layers
Mutation

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1

Ferraro, R. M., Lanzi, G., Masneri, S., Barisani, C., Piovani, G., Savio, G., Cattalini, M., Galli, J., Cereda, C., Muzi-Falconi, M., Orcesi, S., Fazzi, E. & Giliani, S., 2019, In : Stem Cell Research. 41, p. 101580

Research output: Contribution to journalArticle

Aicardi Syndrome
Induced Pluripotent Stem Cells
Fibroblasts
Cell Line
Germ Layers

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene

Masneri, S., Lanzi, G., Ferraro, R. M., Barisani, C., Piovani, G., Savio, G., Cattalini, M., Galli, J., Cereda, C., Muzi-Falconi, M., Orcesi, S., Fazzi, E. & Giliani, S., 2019, In : Stem Cell Research. 41, p. 101623

Research output: Contribution to journalArticle

Aicardi Syndrome
Induced Pluripotent Stem Cells
Fibroblasts
Cell Line
Mutation

HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation

Arosio, A., Cristofani, R., Pansarasa, O., Crippa, V., Riva, C., Sirtori, R., Rodriguez-Menendez, V., Riva, N., Gerardi, F., Lunetta, C., Cereda, C., Poletti, A., Ferrarese, C., Tremolizzo, L. & Sala, G., Oct 30 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-12 12 p.

Research output: Contribution to journalArticle

Autophagy
Proteins
Inclusion Bodies
Motor Neurons
Lysosomes

HuR interacts with lincBRN1a and lincBRN1b during neuronal stem cells differentiation

Carelli, S., Giallongo, T., Rey, F., Latorre, E., Bordoni, M., Mazzucchelli, S., Gorio, M. C., Pansarasa, O., Provenzani, A., Cereda, C. & Di Giulio, A. M., 2019, In : RNA Biology. 16 , (10), p. 1471-85 15 p.

Research output: Contribution to journalArticle

Long Noncoding RNA
Neural Stem Cells
Cell Differentiation
Stem Cells
Adult Stem Cells
Amyotrophic Lateral Sclerosis
Disease Progression
Leukocytes
Biomarkers
Alzheimer Disease

Leukocyte Derived Microvesicles as Disease Progression Biomarkers in Slow Progressing Amyotrophic Lateral Sclerosis Patients

Sproviero, D., La Salvia, S., Colombo, F., Zucca, S., Pansarasa, O., Diamanti, L., Costa, A., Lova, L., Giannini, M., Gagliardi, S., Lauranzano, E., Matteoli, M., Ceroni, M., Malaspina, A. & Cereda, C., 2019, In : Frontiers in Neuroscience. 13, p. 344

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Disease Progression
Leukocytes
Biomarkers
Alzheimer Disease

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes

Nuclear Phospho-SOD1 Protects DNA from Oxidative Stress Damage in Amyotrophic Lateral Sclerosis

Bordoni, M., Pansarasa, O., Dell'Orco, M., Crippa, V., Gagliardi, S., Sproviero, D., Bernuzzi, S., Diamanti, L., Ceroni, M., Tedeschi, G., Poletti, A. & Cereda, C., May 22 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Oxidative Stress
DNA Damage
DNA
Ataxia Telangiectasia

Nuclear Phospho-SOD1 Protects DNA from Oxidative Stress Damage in Amyotrophic Lateral Sclerosis

Bordoni, M., Pansarasa, O., Dell'Orco, M., Crippa, V., Gagliardi, S., Sproviero, D., Bernuzzi, S., Diamanti, L., Ceroni, M., Tedeschi, G., Poletti, A. & Cereda, C., May 22 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Proteostasis and ALS: protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS)

Mandrioli, J., Crippa, V., Cereda, C., Bonetto, V., Zucchi, E., Gessani, A., Ceroni, M., Chio, A., D'Amico, R., Monsurrò, M. R., Riva, N., Sabatelli, M., Silani, V., Simone, I. L., Sorarù, G., Provenzani, A., D'Agostino, V. G., Carra, S. & Poletti, A., May 30 2019, In : BMJ Open. 9, 5, p. e028486

Research output: Contribution to journalArticle

Controlled Clinical Trials
Amyotrophic Lateral Sclerosis
Colchicine
Multicenter Studies
Placebos

Proteostasis and ALS: protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS)

Mandrioli, J., Crippa, V., Cereda, C., Bonetto, V., Zucchi, E., Gessani, A., Ceroni, M., Chio, A., D'Amico, R., Monsurrò, M. R., Riva, N., Sabatelli, M., Silani, V., Simone, I. L., Sorarù, G., Provenzani, A., D'Agostino, V. G., Carra, S. & Poletti, A., May 30 2019, In : BMJ Open. 9, 5, p. e028486

Research output: Contribution to journalArticle

Proteostasis and ALS: Protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS)

Mandrioli, J., Crippa, V., Cereda, C., Bonetto, V., Zucchi, E., Gessani, A., Ceroni, M., Chio, A., D'Amico, R., Monsurrò, M. R., Riva, N., Sabatelli, M., Silani, V., Simone, I. L., Sorarù, G., Provenzani, A., D'Agostino, V. G., Carra, S. & Poletti, A., 2019, In : BMJ Open. 9, 5

Research output: Contribution to journalArticle

Profiling
RNA
Blood
coding
Lateral

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A-E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., May 10 2019, In : Epilepsia. 60, 5, p. 830-844 15 p.

Research output: Contribution to journalArticle

Epilepsy
Brain Diseases
Intellectual Disability
Seizures
Muscle Hypotonia
2018

ALS lymphoblastoid cell lines as a considerable model to understand disease mechanisms

Pansarasa, O., Bordoni, M., Dufruca, L., Diamanti, L., Sproviero, D., Trotti, R., Bernuzzi, S., La Salvia, S., Gagliardi, S., Ceroni, M. & Cereda, C., Jan 29 2018, In : DMM Disease Models and Mechanisms.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Agglomeration
Cells
Cell Line
Mutation

A motor neuron strategy to save time and energy in neurodegeneration: adaptive protein stoichiometry

Zucchi, E., Lu, C-H., Cho, Y., Chang, R., Adiutori, R., Zubiri, I., Ceroni, M., Cereda, C., Pansarasa, O., Greensmith, L., Malaspina, A. & Petzold, A., Jun 30 2018, In : Journal of Neurochemistry.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Motor Neurons
Stoichiometry
Neurons
Disease Progression

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

Filosto, M., Piccinelli, S. C., Palmieri, I., Necchini, N., Valente, M., Zanella, I., Biasiotto, G., Lorenzo, D. D., Cereda, C. & Padovani, A., Dec 22 2018, In : Journal of Clinical Medicine. 8, 1

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Hereditary Spastic Paraplegia
Mutation
Phenotype
Genes

A Novel Nonsense Angiogenin Mutation is Associated with Alzheimer Disease

Gagliardi, S., Davin, A., Bini, P., Sinforiani, E., Poloni, T. E., Polito, L., Rivoiro, C., Binetti, G., Paterlini, A., Benussi, L., Ghidoni, R., Vanacore, N. & Cereda, C., 2018, In : Alzheimer Disease and Associated Disorders.

Research output: Contribution to journalArticle

A Novel Nonsense Angiogenin Mutation is Associated With Alzheimer Disease

Gagliardi, S., Davin, A., Bini, P., Sinforiani, E., Poloni, T. E., Polito, L., Rivoiro, C., Binetti, G., Paterlini, A., Benussi, L., Ghidoni, R., Vanacore, N. & Cereda, C., Sep 4 2018, In : Alzheimer Disease and Associated Disorders.

Research output: Contribution to journalArticle

A Novel Nonsense Angiogenin Mutation is Associated With Alzheimer Disease

Gagliardi, S., Davin, A., Bini, P., Sinforiani, E., Poloni, T. E., Polito, L., Rivoiro, C., Binetti, G., Paterlini, A., Benussi, L., Ghidoni, R., Vanacore, N. & Cereda, C., Sep 4 2018, In : Alzheimer Disease and Associated Disorders.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Muscles
Atrophy
Lower Extremity
Leg

Curcumin and Novel Synthetic Analogs in Cell-Based Studies of Alzheimer's Disease

Gagliardi, S., Franco, V., Sorrentino, S., Zucca, S., Pandini, C., Rota, P., Bernuzzi, S., Costa, A., Sinforiani, E., Pansarasa, O., Cashman, J. R. & Cereda, C., 2018, In : Frontiers in Pharmacology. 9, p. 1404

Research output: Contribution to journalArticle

Curcumin
Alzheimer Disease
beta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
Phagocytosis
Asymptomatic Diseases

Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

Tonduti, D., Panteghini, C., Pichiecchio, A., Decio, A., Carecchio, M., Reale, C., Moroni, I., Nardocci, N., Campistol, J., Garcia-Cazorla, A., Perez Duenas, B., Zorzi, G., Ardissone, A., Granata, T., Freri, E., Zibordi, F., Ragona, F., D'Arrigo, S., Saletti, V., Esposito, S. & 22 others, Pantaleoni, C., Riva, D., De Giorgis, V., Cereda, C., Valente, M. L., Sproviero, D., Poo Arguelles, M. P., Estupina, C. F., Sans Fito, A. M., Martorell Sampol, L., Del Mar O'Callaghan Gordo, M., Ortez Gonzalez, C. I., Gonzalez Alvarez, V., Garcia-Segarra, N., Fusco, C., Bertini, E., Diodato, D., Fazzi, E., Galli, J., Chiapparini, L., Garavaglia, B. & Orcesi, S., Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 135.

Research output: Contribution to journalArticle

Brain Diseases
Genes
Exome
Phenotype
Inborn Genetic Diseases

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

consortium, ITALSGEN., Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., Shankaracharya, N., Smith, B. N. & 31 others, Marangi, G., Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Lauria, G., Tiloca, C., Comi, G. P., Cereda, C., Taroni, F., Ratti, A., Gellera, C. & Silani, V., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, ITALSGEN consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium & Caponnetto, C., Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J., Geiger, J. T., Van der Spek, R. A., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 401 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I. L., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Marrosu, F., Marrosu, M. G., Floris, G., Cannas, A., Capasso, M., Caponnetto, C., Mancardi, G., Origone, P., Mandich, P., Conforti, F. L., Cavallaro, S., Mora, G., Marinou, K., Sideri, R., Penco, S., Mosca, L., Lunetta, C., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Mandrioli, J., Fini, N., Fasano, A., Tremolizzo, L., Arosio, A., Ferrarese, C., Trojsi, F., Tedeschi, G., Monsurrò, M. R., Piccirillo, G., Femiano, C., Ticca, A., Ortu, E., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Santarelli, M., Petrucci, A., Pugliatti, M., Pirisi, A., Parish, L. D., Occhineri, P., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Cau, T. B., Loi, D., Calvo, A., Moglia, C., Brunetti, M., Barberis, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Canosa, A., Ilardi, A., Manera, U., Grassano, M., Tanel, R., Pisano, F., Mazzini, L., Messina, S., D'Alfonso, S., Corrado, L., Ferrucci, L., Harms, M. B., Goldstein, D. B., Shneider, N. A., Goutman, S., Simmons, Z., Miller, T. M., Chandran, S., Pal, S., Manousakis, G., Appel, S. H., Simpson, E., Wang, L., Baloh, R. H., Gibson, S., Bedlack, R., Lacomis, D., Sareen, D., Sherman, A., Bruijn, L., Penny, M., Moreno, C. D. A. M., Kamalakaran, S., Allen, A. S., Boone, B. E., Brown, R., Carulli, J. P., Chesi, A., Chung, W. K., Cirulli, E. T., Cooper, G. M., Couthouis, J., Day-Williams, A. G., Dion, P. A., Gitler, A. D., Glass, J. D., Han, Y., Harris, T., Hayes, S. D., Jones, A. L., Keebler, J., Krueger, B. J., Lasseigne, B. N., Levy, S. E., Lu, Y-F., Maniatis, T., McKenna-Yasek, D., Myers, R. M., Petrovski, S., Pulst, S. M., Raphael, A. R., Ravits, J., Ren, Z., Rouleau, G. A., Sapp, P. C., Sims, K. B., Staropoli, J. F., Waite, L. L., Wang, Q., Wimbish, J. R., Xin, W. W., Phatnani, H., Kwan, J., Broach, J. R., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Hornstein, E., MacGowan, D. J., Heiman-Patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Kaye, J., Wyman, S., LeNail, A., Lima, L., Rothstein, J. D., Svendsen, C. N., Van Eyk, J., Maragakis, N. J., Kolb, S. J., Cudkowicz, M., Baxi, E., Wyman, S. K., Van Eyk, J. E., Benatar, M., Taylor, J. P., Wu, G., Rampersaud, E., Wuu, J., Rademakers, R., Züchner, S., Schule, R., McCauley, J., Hussain, S., Cooley, A., Wallace, M., Clayman, C., Barohn, R., Statland, J., Ravits, J., Swenson, A., Jackson, C., Trivedi, J., Khan, S., Katz, J., Jenkins, L., Burns, T., Gwathmey, K., Caress, J., McMillan, C., Elman, L., Pioro, E., Heckmann, J., So, Y., Walk, D., Maiser, S., Zhang, J., Silani, V., Gellera, C., Ratti, A., Taroni, F., Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., De Marchi, F., Corti, S., Ceroni, M., Siciliano, G., Filosto, M., Inghilleri, M., Peverelli, S., Colombrita, C., Poletti, B., Maderna, L., Del Bo, R., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Camu, W., Mouzat, K., Lumbroso, S., Corcia, P., Meininger, V., Besson, G., Lagrange, E., Clavelou, P., Guy, N., Couratier, P., Vourch, P., Danel, V., Bernard, E., Lemasson, G., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Polak, M., Asress, S., Al-Sarraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Heiman-Patterson, T. D., Kamel, F., Van Den Bosch, L., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., van Es, M., Weber, M., Boylan, K. B., Van Blitterswijk, M., Morrison, K., Basak, A. N., Mora, J. S., Drory, V., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Al Kheifat, A., Andersen, P., Chio, A., Cooper-Knock, J., Dekker, A., Drory, V., Redondo, A. G., Gotkine, M., Hide, W., Iacoangeli, A., Glass, J., Kenna, K., Kiernan, M., Landers, J., McLaughlin, R., Mill, J., Neto, M. M., Pardina, J. M., Morrison, K., Newhouse, S., Pinto, S., Pulit, S., Robberecht, W., Shaw, P., Shaw, C., Sproviero, W., Tazelaar, G., Van Damme, P., van den Berg, L., van Eijk, K., van Es, M., van Vugt, J., Veldink, J., Zatz, M., Bauer, D. C., Twine, N. A., Rogaeva, E., Zinman, L., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Trojanowski, J. Q., Brown R.H., J., van den Berg, L. H., Veldink, J. H., Stone, D. J., Tienari, P., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E., 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Hereditary Spastic Paraplegia

Long non-coding and coding RNAs characterization in Peripheral Blood Mononuclear Cells and Spinal Cord from Amyotrophic Lateral Sclerosis patients

Gagliardi, S., Zucca, S., Pandini, C., Diamanti, L., Bordoni, M., Sproviero, D., Arigoni, M., Olivero, M., Pansarasa, O., Ceroni, M., Calogero, R. & Cereda, C., Feb 5 2018, In : Scientific Reports. 8, 1, p. 2378

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Long Noncoding RNA
Blood Cells
Spinal Cord
RNA

New CACNA1A deletions are associated to migraine phenotypes

Grieco, G. S., Gagliardi, S., Ricca, I., Pansarasa, O., Neri, M., Gualandi, F., Nappi, G., Ferlini, A. & Cereda, C., Aug 30 2018, In : Journal of Headache and Pain. 19, 1, p. 75

Research output: Contribution to journalArticle

Migraine Disorders
Phenotype
Exons
Migraine with Aura
Genes

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Bruno, I., Cereda, C., Dato, C., Di Iorio, G., Donadio, V., Felicori, M., Fini, N., Fiorillo, C., Gallone, S. & 33 others, Gemignani, F., Gigli, G. L., Graziano, C., Guerrini, R., Gurrieri, F., Kariminejad, A., Lieto, M., Marques LourenḈo, C., Malandrini, A., Mandich, P., Marcotulli, C., Mari, F., Massacesi, L., Melone, M. A. B., Mignarri, A., Milone, R., Musumeci, O., Pegoraro, E., Perna, A., Petrucci, A., Pini, A., Pochiero, F., Pons, M. R., Ricca, I., Rossi, S., Seri, M., Stanzial, F., Tinelli, F., Toscano, A., Valente, M., Federico, A., Rubegni, A. & Santorelli, F. M., 2018, In : Frontiers in Neurology. 9, p. 981

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Cross-Sectional Studies
Genes
Pyramidal Tracts
Mutation

Pathological proteins are transported by extracellular vesicles of sporadic amyotrophic lateral sclerosis patients

Sproviero, D., La Salvia, S., Giannini, M., Crippa, V., Gagliardi, S., Bernuzzi, S., Diamanti, L., Ceroni, M., Pansarasa, O., Poletti, A. & Cereda, C., Jul 19 2018, In : Frontiers in Neuroscience. 12, JUL, 487.

Research output: Contribution to journalArticle

Exosomes
Amyotrophic Lateral Sclerosis
RNA-Binding Protein FUS
Proteins
Poisons

Pathological Proteins Are Transported by Extracellular Vesicles of Sporadic Amyotrophic Lateral Sclerosis Patients

Sproviero, D., La Salvia, S., Giannini, M., Crippa, V., Gagliardi, S., Bernuzzi, S., Diamanti, L., Ceroni, M., Pansarasa, O., Poletti, A. & Cereda, C., 2018, In : Frontiers in Neuroscience. 12, p. 487

Research output: Contribution to journalArticle

Exosomes
Amyotrophic Lateral Sclerosis
RNA-Binding Protein FUS
Proteins
Poisons
Aicardi Syndrome
Interferons
Genes
Muscle Spasticity
Brain

The length of SNCA Rep1 microsatellite may influence cognitive evolution in Parkinson's disease

Corrado, L., De Marchi, F. D., Tunesi, S., Oggioni, G. D., Carecchio, M., Magistrelli, L., Tesei, S., Riboldazzi, G., Fonzo, A. D., Locci, C., Trezzi, I., Zangaglia, R., Cereda, C., D'Alfonso, S., Magnani, C., Comi, G. P., Bono, G., Pacchetti, C., Cantello, R., Goldwurm, S. & 1 others, Comi, C., Mar 29 2018, In : Frontiers in Neurology. 9, MAR, 213.

Research output: Contribution to journalArticle

Microsatellite Repeats
Parkinson Disease
alpha-Synuclein
Hallucinations
Dementia

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease

Corrado, L., De Marchi, F., Tunesi, S., Oggioni, G. D., Carecchio, M., Magistrelli, L., Tesei, S., Riboldazzi, G., Di Fonzo, A., Locci, C., Trezzi, I., Zangaglia, R., Cereda, C., D'Alfonso, S., Magnani, C., Comi, G. P., Bono, G., Pacchetti, C., Cantello, R., Goldwurm, S. & 1 others, Comi, C., 2018, In : Frontiers in Neurology. 9, p. 213

Research output: Contribution to journalArticle

Microsatellite Repeats
Parkinson Disease
alpha-Synuclein
Hallucinations
Dementia

The Paleo-Indian entry into South America according to mitogenomes

Brandini, S., Bergamaschi, P., Fernando Cerna, M., Gandini, F., Bastaroli, F., Bertolini, E., Cereda, C., Ferretti, L., Gómez-Carballa, A., Battaglia, V., Salas, A., Semino, O., Achilli, A., Olivieri, A. & Torroni, A., Feb 1 2018, In : Molecular Biology and Evolution. 35, 2, p. 299-311 13 p.

Research output: Contribution to journalArticle

South America
North America
Ecuador
Peru
Beringia

The Paleo-Indian Entry into South America According to Mitogenomes

Brandini, S., Bergamaschi, P., Cerna, M. F., Gandini, F., Bastaroli, F., Bertolini, E., Cereda, C., Ferretti, L., Gómez-Carballa, A., Battaglia, V., Salas, A., Semino, O., Achilli, A., Olivieri, A. & Torroni, A., Feb 1 2018, In : Molecular Biology and Evolution. 35, 2, p. 299-311 13 p.

Research output: Contribution to journalArticle

South America
North America
Ecuador
Peru
Beringia

The role of clinical and neuroimaging features in the diagnosis of CADASIL

on behalf of Lombardia GENS-group, 2018, In : Journal of Neurology. 265, 12, p. 2934-2943

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History

The role of clinical and neuroimaging features in the diagnosis of CADASIL

GENS-group, L., Bersano, A., Bedini, G., Markus, H. S., Vitali, P., Colli-Tibaldi, E., Taroni, F., Gellera, C., Baratta, S., Mosca, L., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Lanfranconi, S., Mazucchelli, F., Zarcone, D., De Lodovici, M. L., Bono, G., Boncoraglio, G. B. & 31 others, Parati, E. A., Calloni, M. V., Perrone, P., Bordo, B. M., Motto, C., Agostoni, E., Pezzini, A., Padovani, A., Micieli, G., Cavallini, A., Molini, G., Sasanelli, F., Sessa, M., Comi, G., Checcarelli, N., Carmerlingo, M., Corato, M., Marcheselli, S., Fusi, L., Grampa, G., Uccellini, D., Beretta, S., Ferrarese, C., Incorvaia, B., Tadeo, C. S., Adobbati, L., Silani, V., Faragò, G., Trobia, N., Grond-Ginsbach, C. & Candelise, L., Oct 11 2018, In : Journal of Neurology.

Research output: Contribution to journalArticle

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Lombardia GENS-group, Oct 11 2018, In : Journal of Neurology.

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History
2017

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report

Gagliardi, S., Grieco, G. S., Gualandi, F., Caniatti, L. M., Groppo, E., Valente, M., Nappi, G., Neri, M. & Cereda, C., Dec 2017, In : Journal of Headache and Pain. 18, 1, p. 63

Research output: Contribution to journalArticle

Migraine Disorders
Mutation
Inborn Genetic Diseases
Genetic Heterogeneity
Hypesthesia

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

McLaughlin, R. L., Schijven, D., Van Rheenen, W., Van Eijk, K. R., O'Brien, M., Kahn, R. S., Ophoff, R. A., Goris, A., Bradley, D. G., Al-Chalabi, A., Van Den Berg, L. H., Luykx, J. J., Hardiman, O., Veldink, J. H., Shatunov, A., Dekker, A. M., Diekstra, F. P., Pulit, S. L., Van Der Spek, R. A. A., Van Doormaal, P. T. C. & 416 others, Sproviero, W., Jones, A. R., Nicholson, G. A., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Bauer, D., Kahlke, T., Williams, K., Eftimov, F., Fogh, I., Ticozzi, N., Lin, K., Millecamps, S., Salachas, F., Meininger, V., Carvalho, M. D., Pinto, S., Mora, J. S., Rojas-Garcyá, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Pittman, A., Sidle, K., Fratta, P., Malaspina, A., Petri, S., Abdulla, S., Drepper, C., Sendtner, M., Meyer, T., Wiedau-Pazos, M., Lomen-Hoerth, C., Deerlin, V. M. V., Trojanowski, J. Q., Elman, L., McCluskey, L., Basak, N., Meitinger, T., Lichtner, P., Blagojevic-Radivojkov, M., Andres, C. R., Maurel, C., Bensimon, G., Landwehrmeyer, B., Brice, A., Payan, C. A. M., Saker-Delye, S., Durr, A., Wood, N., Tittmann, L., Lieb, W., Franke, A., Rietschel, M., Cichon, S., Nothen, M. M., Amouyel, P., Tzourio, C., Dartigues, J-F., Uitterlinden, A. G., Rivadeneira, F., Estrada, K., Hofman, A., Curtis, C., Derkooi, A. J. V., De Visser, M., Weber, M., Shaw, C. E., Smith, B. N., Pansarasa, O., Cereda, C., Bo, R. D., Comi, G. P., D'Alfonso, S., Bertolin, C., Soraru, G., Mazzini, L., Pensato, V., Gellera, C., Tiloca, C., Ratti, A., Calvo, A., Moglia, C., Brunetti, M., Arcuti, S., Capozzo, R., Zecca, C., Lunetta, C., Penco, S., Riva, N., Padovani, A., Filosto, M., Blair, I., Nigel Leigh, P., Casale, F., Chio, A., Beghi, E., Pupillo, E., Tortelli, R., Logroscino, G., Powell, J., Ludolph, A. C., Weishaupt, J. H., Robberecht, W., Damme, P. V., Brown, R. H., Glass, J., Landers, J. E., Andersen, P. M., Corcia, P., Vourc'H, P., Silani, V., Es, M. A. V., Pasterkamp, R. J., Lewis, C. M., Breen, G., Ripke, S., Neale, B. M., Corvin, A., Walters, J. T. R., Farh, K-H., Holmans, P. A., Lee, P., Bulik-Sullivan, B., Collier, D. A., Huang, H., Pers, T. H., Agartz, I., Agerbo, E., Albus, M., Alexander, M., Amin, F., Bacanu, S. A., Begemann, M., Belliveau, R. A., Bene, J., Bergen, S. E., Bevilacqua, E., Bigdeli, T. B., Black, D. W., Bruggeman, R., Buccola, N. G., Buckner, R. L., Byerley, W., Cahn, W., Cai, G., Campion, D., Cantor, R. M., Carr, V. J., Carrera, N., Catts, S. V., Chambert, K. D., Chan, R. C. K., Chan, R. Y. L., Chen, E. Y. H., Cheng, W., Cheung, E. F. C., Chong, S. A., Cloninger, C. R., Cohen, D., Cohen, N., Cormican, P., Craddock, N., Crowley, J. J., Curtis, D., Davidson, M., Davis, K. L., Degenhardt, F., Favero, J. D., Demontis, D., Dikeos, D., Dinan, T., Djurovic, S., Donohoe, G., Drapeau, E., Duan, J., Dudbridge, F., Durmishi, N., Eichhammer, P., Eriksson, J., Escott-Price, V., Essioux, L., Fanous, A. H., Farrell, M. S., Frank, J., Franke, L., Freedman, R., Freimer, N. B., Friedl, M., Friedman, J. I., Fromer, M., Genovese, G., Georgieva, L., Giegling, I., Giusti-Rodrýguez, P., Godard, S., Goldstein, J. I., Golimbet, V., Gopal, S., Gratten, J., De Haan, L., Hammer, C., Hamshere, M. L., Hansen, M., Hansen, T., Haroutunian, V., Hartmann, A. M., Henskens, F. A., Herms, S., Hirschhorn, J. N., Hoffmann, P., Hofman, A., Hollegaard, M. V., Hougaard, D. M., Ikeda, M., Joa, I., Julia, A., Kalaydjieva, L., Karachanak-Yankova, S., Karjalainen, J., Kavanagh, D., Keller, M. C., Kennedy, J. L., Khrunin, A., Kim, Y., Klovins, J., Knowles, J. A., Konte, B., Kucinskas, V., Kucinskiene, Z. A., Kuzelova-Ptackova, H., Kahler, A. K., Laurent, C., Lee, J., Hong Lee, S., Legge, S. E., Lerer, B., Li, M., Li, T., Liang, K-Y., Lieberman, J., Limborska, S., Loughland, C. M., Lubinski, J., Lonnqvist, J., MacEk, M., Magnusson, P. K. E., Maher, B. S., Maier, W., Mallet, J., Marsal, S., Mattheisen, M., Mattingsdal, M., McCarley, R. W., McDonald, C., McIntosh, A. M., Meier, S., Meijer, C. J., Melegh, B., Melle, I., Mesholam-Gately, R. I., Metspalu, A., Michie, P. T., Milani, L., Milanova, V., Mokrab, Y., Morris, D. W., Mors, O., Murphy, K. C., Murray, R. M., Myin-Germeys, I., Muller-Myhsok, B., Nelis, M., Nenadic, I., Nertney, D. A., Nestadt, G., Nicodemus, K. K., Nikitina-Zake, L., Nisenbaum, L., Nordin, A., O'Callaghan, E., O'Dushlaine, C., Anthony O'Neill, F., Oh, S-Y., Olincy, A., Olsen, L., Vanos, J., Pantelis, C., Papadimitriou, G. N., Papiol, S., Parkhomenko, E., Pato, M. T., Paunio, T., Pejovic-Milovancevic, M., Perkins, D. O., Pietilainen, O., Pimm, J., Pocklington, A. J., Price, A., Pulver, A. E., Purcell, S. M., Quested, D., Rasmussen, H. B., Reichenberg, A., Reimers, M. A., Richards, A. L., Roffman, J. L., Roussos, P., Ruderfer, D. M., Salomaa, V., Sanders, A. R., Schall, U., Schubert, C. R., Schulze, T. G., Schwab, S. G., Scolnick, E. M., Scott, R. J., Seidman, L. J., Shi, J., Sigurdsson, E., Silagadze, T., Silverman, J. M., Sim, K., Slominsky, P., Smoller, J. W., So, H-C., Spencer, C. C. A., Stah, E. A., Stefansson, H., Steinberg, S., Stogmann, E., Straub, R. E., Strengman, E., Strohmaier, J., Scott Stroup, T., Subramaniam, M., Suvisaari, J., Svrakic, D. M., Szatkiewicz, J. P., Söderman, E., Thirumalai, S., Toncheva, D., Tosato, S., Veijola, J., Waddington, J., Walsh, D., Wang, D., Wang, Q., Webb, B. T., Weiser, M., Wildenauer, D. B., Williams, N. M., Williams, S., Witt, S. H., Wolen, A. R., Wong, E. H. M., Wormley, B. K., Xi, H. S., Zai, C. C., Zheng, X., Zimprich, F., Wray, N. R., Stefansson, K., Visscher, P. M., Adolfsson, R., Andreassen, O. A., Blackwood, D. H. R., Bramon, E., Buxbaum, J. D., Børglum, A. D., Darvasi, A., Domenici, E., Ehrenreich, H., Esko, T., Gejman, P. V., Gil, M., Gurling, H., Hultman, C. M., Iwata, N., Jablensky, A. V., Jonsson, E. G., Kendler, K. S., Kirov, G., Knight, J., Lencz, T., Levinson, D. F., Li, Q. S., Liu, J., Malhotra, A. K., McCarrol, S. A., McQuillin, A., Moran, J. L., Mortensen, P. B., Mowry, B. J., Owen, M. J., Palotie, A., Pato, C. N., Petryshen, T. L., Posthuma, D., Riley, B. P., Rujescu, D., Sham, P. C., Sklar, P., Clair, D. S., Weinberger, D. R., Wendland, J. R., Werge, T., Daly, M. J., Sullivan, P. F. & O'Donovan, M. C., 2017, In : Nature Communications. 8

Research output: Contribution to journalArticle