• 2466 Citations
  • 23 h-Index
19962019
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Research Output 1996 2019

  • 2466 Citations
  • 23 h-Index
  • 53 Article
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Article
2019
2 Citations (Scopus)

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

Fratta, P., Ornaghi, F., Dati, G., Zambroni, D., Saveri, P., Belin, S., D'Adamo, P., Shy, M., Quattrini, A., Laura Feltri, M. & Wrabetz, L., Jan 1 2019, In : Human Molecular Genetics. 28, 1, p. 124-132 9 p.

Research output: Contribution to journalArticle

Myelin P0 Protein
Nonsense Codon
Phenotype
Membranes
Myelin Sheath
2018

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia

Zanardi, A., Conti, A., Cremonesi, M., D'Adamo, P., Gilberti, M. E., Apostoli, P., Cannistraci, CV., Piperno, A., David, S. & Alessio, M., 2018, In : EMBO Molecular Medicine. 10, 1, p. 91-106 16 p.

Research output: Contribution to journalArticle

Ceruloplasmin
Iron
Knockout Mice
Therapeutics
Brain

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia

Zanardi, A., Conti, A., Cremonesi, M., D'Adamo, P., Gilberti, E., Apostoli, P., Cannistraci, C. V., Piperno, A., David, S. & Alessio, M., Jan 2018, In : EMBO Molecular Medicine. 10, 1, p. 91-106 16 p.

Research output: Contribution to journalArticle

Ceruloplasmin
Iron
Knockout Mice
Therapeutics
Brain

Selective killing of spinal cord neural stem cells impairs locomotor recovery in a mouse model of spinal cord injury

Cusimano, M., Brambilla, E., Capotondo, A., De Feo, D., Tomasso, A., Comi, G., D'Adamo, P., Muzio, L. & Martino, G., 2018, In : Journal of Neuroinflammation. 15, 1, 58.

Research output: Contribution to journalArticle

Neural Stem Cells
Spinal Cord Injuries
Spinal Cord
Nestin
Thymidine Kinase
2017
14 Citations (Scopus)

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Sauer, AV., Hernandez, RJ., Fumagalli, F., Bianchi, V., Poliani, PL., Dallatomasina, C., Riboni, E., Politi, LS., Tabucchi, A., Carlucci, F., Casiraghi, M., Carriglio, N., Cominelli, M., Forcellini, CA., Barzaghi, F., Ferrua, F., Minicucci, F., Medaglini, S., Leocani, L., la Marca, G. & 8 others, Notarangelo, L. D., Azzari, C., Comi, G., Baldoli, C., Canale, S., Sessa, M., D'Adamo, P. & Aiuti, A., 2017, In : Scientific Reports. 7, 9, 40136.

Research output: Contribution to journalArticle

Adenosine Deaminase
Adenosine
Severe Combined Immunodeficiency
Brain
Enzyme Replacement Therapy
2 Citations (Scopus)

Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability

Morè, L., Künnecke, B., Yekhlef, L., Bruns, A., Marte, A., Fedele, E., Bianchi, V., Taverna, S., Gatti, S. & D'Adamo, P., 2017, In : Neuroscience. 344, 5, p. 346-359 14 p.

Research output: Contribution to journalArticle

Corpus Striatum
Intellectual Disability
Learning
Neuronal Plasticity
Aptitude
8 Citations (Scopus)

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility

Guarnieri, FC., Pozzi, D., Raimondi, A., Fesce, R., Valente, MM., Delvecchio, VS., Van Esch, H., Matteoli, M., Benfenati, F., D'Adamo, P. & Valtorta, F., 2017, In : Human Molecular Genetics. 26, 23, p. 4699-4714 16 p.

Research output: Contribution to journalArticle

Synapsins
Synaptic Vesicles
Missense Mutation
Life Cycle Stages
Intellectual Disability
8 Citations (Scopus)

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility

Guarnieri, F. C., Pozzi, D., Raimondi, A., Fesce, R., Valente, M. M., Delvecchio, V. S., Van Esch, H., Matteoli, M., Benfenati, F., D'Adamo, P. & Valtorta, F., Dec 1 2017, In : Human Molecular Genetics. 26, 23, p. 4699-4714 16 p.

Research output: Contribution to journalArticle

Synapsins
Synaptic Vesicles
Missense Mutation
Life Cycle Stages
Intellectual Disability
24 Citations (Scopus)

Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Hinney, A., Kesselmeier, M., Jall, S., Volckmar, A-L., Föcker, M., Antel, J., [Unknown], GCAN., [Unknown], WTCCC., Heid, I. M., Winkler, T. W., Consortium, GIANT., Grant, S. F., [Unknown], EGG., Guo, Y., Bergen, A. W., Kaye, W., Berrettini, W. H., Hakonarson, H., Group, P. F. C., Foundation, C. H. O. PP. & 473 others, Herpertz-Dahlmann, B., de Zwaan, M., Herzog, W., Ehrlich, S., Zipfel, S., Egberts, K. M., Adan, R., Brandys, M., van Elburg, A. A., Boraska Perica, V., Müller, T. D., Tschöp, M. H., Zeggini, E., Bulik, C. M., Collier, D., Scherag, A., Hebebrand, J., Perica, V. B., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J., Lewis, C. M., Schmidt, U., Tozzi, F., Iezebrink, K., Gorwood, P., Adan, R. A. H., Kas, M. J. H., Favaro, A., Santonastaso, P., Fernández-Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Keski-Rahkonen, A., Raevuori-Helkamaa, A., Van Furth, E. F., Slof-Op’t Landt, M. C. T., Hudson, J. I., Reichborn-Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Kaplan, A. S., Karwautz, A., Berrettini, W. H., Li, D., Schork, N. J., Komaki, G., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J. H., Cone, R. D., Dackor, J., DeSocio, J. E., Hilliard, C. E., O’Toole, J. K., Pantel, J., Szatkiewicz, J. P., Taico, C., Zerwas, S., Trace, S. E., Davis, O. S. P., Helder, S., Bühren, K., Burghardt, R., de Zwaan, M., Egberts, K., Imgart, H., Scherag, S., Boni, C., Ramoz, N., Versini, A., Brandys, M. K., Danner, U. N., de Kove, C., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., van Elburg, A. A., Bruson, A., Clementi, M., Degortes, D., Forzan, M., Tenconi, E., Docampo, E., Jiménez-Murcia, G. E. S., Lissowska, J., Rajewski, A., Szeszenia-Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen-Woods, S., Farmer, A., McGuffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. E., Christian, D., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, R., Gaborieau, V., Dick, D. M., Palotie, A., Ripatti, S., Widén, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., Ding, B., Klareskog, L., Padyukov, L., Finan, C., Kalsi, G., Roberts, M., Logan, D. W., Peltonen, L., Ritchie, G. R. S., Barrett, J. C., Estivill, X., Sullivan, P. F., Collier, D. A., Anderson, C. A., McGinnis, R., Sambrook, J., Stephens, J., Ouwehand, W. H., McArdle, W. L., Ring, S. M., Strachan, D. P., Alexander, G., Conlon, P. J., Dominiczak, A., Duncanson, A., Hill, A., Langford, C., Lord, G., Maxwell, A. P., Morgan, L., Sandford, R. N., Sheerin, N., Vannberg, F. O., Blackburn, H., Chen, W-M., Edkins, S., Gillman, M., Gray, E., Hunt, S. E., Nengut, S-G., Potter, S., Rich, S. S., Simpkin, D., Whittaker, P., Adair, L. S., Ang, W., Atalay, M., van Beijsterveldt, T., Bergen, N., Benke, K., Berry, D. J., Boomsma, D. I., Bradfield, J. P., Charoen, P., Coin, L., Cooper, C., Cousminer, D. L., Das, S., Davis, O. S., Dedoussis, G. V., Elliott, P., Evans, D. M., Feenstra, B., Flexeder, C., Frayling, T., Freathy, R. M., Gaillard, R., Geller, F., Grant, S. F., Groen-Blokhuis, M., Goh, L. K., Guxens, M., Hattersley, A. T., Haworth, C. M., Hadley, D., Heinrich, J., Hirschhorn, J. N., Hocher, B., Holloway, J. W., Holst, C., Hottenga, J. J., Horikoshi, M., Huikari, V., Hypponen, E., Iñiguez, C., Jaddoe, V. W., Jarvelin, M. R., Kaakinen, M., Kilpeläinen, T. O., Kirin, M., Kowgier, M., Lakka, H. M., Lakka, T. A., Lange, L. A., Lawlor, D. A., Lehtimäki, T., Lewin, A., Lindgren, C., Lindi, V., Maggi, R., Marsh, J., McCarthy, M. I., Melbye, M., Middeldorp, C., Millwood, I., Mohlke, K. L., Mook-Kanamori, D. O., Murray, J. C., Nivard, M., Nohr, E. A., Oken, E., Ong, K. K., O'Reilly, P. F., Palmer, L. J., Panoutsopoulou, K., Pararajasingham, J., Pearson, E. R., Pennell, C. E., Power, C., Price, T. S., Prokopenko, I., Raitakari, O. T., Rodriguez, A., Salem, R. M., Saw, S. M., Sebert, S., Siitonen, N., Simell, O., Sørensen, T. I., Sovio, U., Pourcain, B. S., Sunyer, J., Taal, H. R., Teo, Y. Y., Thiering, E., Tiesler, C., Timpson, N. J., Uitterlinden, A. G., Valcárcel, B., Warrington, N. M., White, S., Willemsen, G., Wilson, J. F., Yaghootkar, H., Elks, C. E., Perry, J. R., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., Gudbjartsson, D. F., Koller, D. L., Kutalik, Z., Lin, P., Mangino, M., Marongiu, M., McArdle, P. F., Smith, A. V., Stolk, L., van Wingerden, S. H., Zhao, J. H., Albrecht, E., Corre, T., Ingelsson, E., Hayward, C., Magnusson, P. K., Smith, E. N., Ulivi, S., Warrington, M., Zgaga, L., Alavere, H., Amin, N., Aspelund, T., Bandinelli, S., Barroso, I., Berenson, G. S., Bergmann, S., Boerwinkle, E., Buring, J. E., Busonero, F., Campbell, H., Chanock, S. J., Chen, W., Cornelis, M. C., Couper, D., Coviello, A. D., d'Adamo, P., de Faire, U., de Geus, E. J., Deloukas, P., Döring, A., Davey Smith, G., Easton, D. F., Eiriksdottir, G., Emilsson, V., Eriksson, J., Ferrucci, L., Folsom, A. R., Foroud, T., Garcia, M., Gasparini, P., Gieger, C., Gudnason, V., Hall, P., Hankinson, S. E., Ferreli, L., Heath, A. C., Hernandez, D. G., Hofman, A., Hu, F. B., Illig, T., Järvelin, M. R., Johnson, A. D., Karasik, D., Khaw, K. T., Kiel, D. P., Kolcic, I., Kraft, P., Launer, L. J., Laven, J. S., Li, S., Liu, J., Levy, D., Martin, N. G., Mooser, V., Murray, S. S., Nalls, M. A., Navarro, P., Nelis, M., Ness, A. R., Northstone, K., Oostra, B. A., Peacock, M., Paré, G., Parker, A. N., Pedersen, N. L., Pharoah, P., Polasek, O., Plump, A. S., Pouta, A., Porcu, E., Rafnar, T., Rice, J. P., Rivadeneira, F., Rudan, I., Sala, C., Salomaa, V., Sanna, S., Schlessinger, D., Scuteri, A., Segrè, A. V., Shuldiner, A. R., Srinivasan, S. R., Tammesoo, M. L., Tikkanen, E., Toniolo, D., Tsui, K., Tryggvadottir, L., Tyrer, J., Uda, M., van Dam, R. M., van Meurs, J. B., Vollenweider, P., Waeber, G., Wareham, N. J., Waterworth, D. M., Weedon, M. N., Wichmann, H. E., Wright, A. F., Young, L., Zhai, G., Zhuang, W. V., Bierut, L. J., Boyd, H. A., Crisponi, L., Demerath, E. W., van Duijn, C. M., Econs, M. J., Harris, T. B., Hunter, D. J., Loos, R. J., Montgomery, G. W., Ridker, P. M., Spector, T. D., Streeten, E. A., Stefansson, K., Thorsteinsdottir, U., Widen, E., Murabito, J. M., Murray, A., Brandt, H., Crawford, S., Crow, S., Fichter, M. M., Halmi, K. A., Johnson, C., La Via, M., Mitchell, J., Strober, M., Rotondo, A., Woodside, D. B., Keel, P., Lilenfeld, L., Plotnicov, K. & Magistretti, P., 2017, In : Molecular Psychiatry. 22, 2, p. 192-201 10 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics

Potokar, M., Jorgačevski, J., Lacovich, V., Kreft, M., Vardjan, N., Bianchi, V., D'Adamo, P. & Zorec, R., 2017, In : Molecular Neurobiology. 54, 4, p. 2458-2468 11 p.

Research output: Contribution to journalArticle

Guanine Nucleotide Dissociation Inhibitors
Astrocytes
Intellectual Disability
GTP Phosphohydrolases
Mental Disorders
9 Citations (Scopus)

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol

Franca, R., Rebora, P., Bertorello, N., Fagioli, F., Conter, V., Biondi, A., Colombini, A., Micalizzi, C., Zecca, M., Parasole, R., Petruzziello, F., Basso, G., Putti, M. C., Locatelli, N., d'Adamo, P., Valsecchi, M. G., Decorti, G. & Rabusin, M., Jan 2017, In : Pharmacogenomics Journal. 17, 1, p. 4-10 7 p.

Research output: Contribution to journalArticle

Pharmacogenetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Liver
Logistic Models
Therapeutics
9 Citations (Scopus)

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol

Franca, R., Rebora, P., Bertorello, N., Fagioli, F., Conter, V., Biondi, A., Colombini, A., Micalizzi, C., Zecca, M., Parasole, R., Petruzziello, F., Basso, G., Putti, M. C., Locatelli, F., d'Adamo, P., Valsecchi, M. G., Decorti, G. & Rabusin, M., Jan 1 2017, In : Pharmacogenomics Journal. 17, 1, p. 4-10 7 p.

Research output: Contribution to journalArticle

Pharmacogenetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Liver
Logistic Models
Therapeutics
4 Citations (Scopus)

Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/yMice

Murru, L., Vezzoli, E., Longatti, A., Ponzoni, L., Falqui, A., Folci, A., Moretto, E., Bianchi, V., Braida, D., Sala, M., D'Adamo, P., Bassani, S., Francolini, M. & Passafaro, M., 2017, In : Cerebral Cortex. 27, 11, p. 5369-5384 16 p.

Research output: Contribution to journalArticle

Intellectual Disability
Pharmacology
Phenotype
Mutation
Aptitude
4 Citations (Scopus)
Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor
4 Citations (Scopus)

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Ciammola, A., Carrera, P., Di Fonzo, A., Sassone, J., Villa, R., Poletti, B., Ferrari, M., Girotti, F., Monfrini, E., Buongarzone, G., Silani, V., Cinnante, CM., Mignogna, ML., D'Adamo, P. & Bonati, MT., 2017, In : Parkinsonism and Related Disorders. 44, 3, p. 142-146 5 p.

Research output: Contribution to journalArticle

Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor
4 Citations (Scopus)

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Ciammola, A., Carrera, P., Di Fonzo, A., Sassone, J., Villa, R., Poletti, B., Ferrari, M., Girotti, F., Monfrini, E., Buongarzone, G., Silani, V., Cinnante, C. M., Mignogna, M. L., D'Adamo, P. & Bonati, M. T., Nov 2017, In : Parkinsonism and Related Disorders. 44, p. 142-146 5 p.

Research output: Contribution to journalArticle

Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor
2016
34 Citations (Scopus)

2-Deoxy-D-glucose ameliorates PKD progression

Chiaravalli, M., Rowe, I. S. M-J., Mannella, V., Quilici, G., Canu, T., Bianchi, V., Gurgone, A., Antunes, S., D'Adamo, P., Esposito, A., Musco, G. & Boletta, A., 2016, In : Journal of the American Society of Nephrology. 27, 7, p. 1958-1969 12 p.

Research output: Contribution to journalArticle

Deoxyglucose
Autosomal Dominant Polycystic Kidney
Cystic Kidney Diseases
Glucose
Gene Silencing

Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits

Zamboni, V., Armentano, M., Saró, G., Ciraolo, E., Ghigo, A., Germena, G., Umbach, A., Valnegri, P., Passafaro, M., Carabelli, V., Gavello, D., Bianchi, V., D'Adamo, P., De Curtis, I., El-Assawi, N., Mauro, A., Priano, L., Ferri, N., Hirsch, E. & Merlo, G. R., Oct 7 2016, In : Scientific Reports. 6, 34877.

Research output: Contribution to journalArticle

Hippocampus
Neurons
GTPase-Activating Proteins
Neuronal Plasticity
Monomeric GTP-Binding Proteins
15 Citations (Scopus)

Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits

Zamboni, V., Armentano, M., Saró, G., Ciraolo, E., Ghigo, A., Germena, G., Umbach, A., Valnegri, P., Passafaro, M., Carabelli, V., Gavello, D., Bianchi, V., D'Adamo, P., De Curtis, I., El-Assawi, N., Mauro, A., Priano, L., Ferri, N., Hirsch, E. & Merlo, G. R., Oct 7 2016, In : Scientific Reports. 6, 34877.

Research output: Contribution to journalArticle

Hippocampus
Neurons
GTPase-Activating Proteins
Neuronal Plasticity
Monomeric GTP-Binding Proteins
8 Citations (Scopus)

Increased neuroplasticity and hippocampal microglia activation in a mice model of rapid antidepressant treatment

Muzio, L., Brambilla, V., Calcaterra, L., D'Adamo, P., Martino, G. & Benedetti, F., Sep 15 2016, In : Behavioural Brain Research. 311, p. 392-402 11 p.

Research output: Contribution to journalArticle

Neuronal Plasticity
Sleep Deprivation
Dentate Gyrus
Microglia
Antidepressive Agents
11 Citations (Scopus)

Loss of Either Rac1 or Rac3 GTPase Differentially Affects the Behavior of Mutant Mice and the Development of Functional GABAergic Networks

Pennucci, R., Talpo, F., Astro, V., Montinaro, V., Morè, L., Cursi, M., Castoldi, V., Chiaretti, S., Bianchi, V., Marenna, S., Cambiaghi, M., Tonoli, DI., Leocani, L., Biella, G., D'Adamo, P. & De Curtis, I., Feb 1 2016, In : Cerebral Cortex. 26, 2, p. 873-890 18 p.

Research output: Contribution to journalArticle

GTP Phosphohydrolases
Interneurons
Pyramidal Cells
rac1 GTP-Binding Protein
Cannabinoid Receptor Antagonists
13 Citations (Scopus)

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

Bolino, A., Piguet, F., Alberizzi, V., Pellegatta, M., Rivellini, C., Guerrero-Valero, M., Noseda, R., Brombin, C., Nonis, A., D'Adamo, P., Taveggia, C. & Previtali, S., Dec 1 2016, In : EMBO Molecular Medicine. 8, 12, p. 1438-1454 17 p.

Research output: Contribution to journalArticle

Neuregulin-1
Niacin
Amyloid Precursor Protein Secretases
Myelin Sheath
Schwann Cells
34 Citations (Scopus)

Synaptic dysfunction, memory deficits and hippocampal atrophy due to ablation of mitochondrial fission in adult forebrain neurons

Oettinghaus, B., Schulz, J. M., Restelli, L. M., Licci, M., Savoia, C., Schmidt, A., Schmitt, K., Grimm, A., Morè, L., Hench, J., Tolnay, M., Eckert, A., D'adamo, P., Franken, P., Ishihara, N., Mihara, K., Bischofberger, J., Scorrano, L. & Frank, S., Jan 1 2016, In : Cell Death and Differentiation. 23, 1, p. 18-28 11 p.

Research output: Contribution to journalArticle

Mitochondrial Dynamics
Dynamins
Memory Disorders
Prosencephalon
Atrophy
2015
11 Citations (Scopus)

Down-sizing of neuronal network activity and density of presynaptic terminals by pathological acidosis are efficiently prevented by Diminazene Aceturate

de Ceglia, R., Chaabane, L., Biffi, E., Bergamaschi, A., Ferrigno, G., Amadio, S., Del Carro, U., Mazzocchi, N., Comi, G., Bianchi, V., Taverna, S., Forti, L., D'Adamo, P., Martino, G., Menegon, A. & Muzio, L., Mar 1 2015, In : Brain, Behavior, and Immunity. 45, p. 263-276 14 p.

Research output: Contribution to journalArticle

Presynaptic Terminals
Acidosis
Acid Sensing Ion Channels
Autoimmune Experimental Encephalomyelitis
Neurons
32 Citations (Scopus)

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

Mignogna, M. L., Giannandrea, M., Gurgone, A., Fanelli, F., Raimondi, F., Mapelli, L., Bassani, S., Fang, H., Van Anken, E., Alessio, M., Passafaro, M., Gatti, S., Esteban, J. A., Huganir, R. & D'Adamo, P., Mar 18 2015, In : Nature Communications. 6, 6504.

Research output: Contribution to journalArticle

Isoxazoles
disabilities
propionic acid
Intellectual Disability
proteins
2014
23 Citations (Scopus)

A CTNNA3 compound heterozygous deletion implicates a role for αt-catenin in susceptibility to autism spectrum disorder

Bacchelli, E., Ceroni, F., Pinto, D., Lomartire, S., Giannandrea, M., D'Adamo, P., Bonora, E., Parchi, P., Tancredi, R., Battaglia, A. & Maestrini, E., Jul 10 2014, In : Journal of Neurodevelopmental Disorders. 6, 1, 17.

Research output: Contribution to journalArticle

Catenins
Brain
Genetic Heterogeneity
Nonsense Codon
Heterozygote
24 Citations (Scopus)

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains

Vanmarsenille, L., Giannandrea, M., Fieremans, N., Verbeeck, J., Belet, S., Raynaud, M., Vogels, A., Männik, K., Õunap, K., Jacqueline, V., Briault, S., Van Esch, H., D'Adamo, P. & Froyen, G., 2014, In : Human Mutation. 35, 3, p. 377-383 7 p.

Research output: Contribution to journalArticle

Neurons
X Chromosome Inactivation
Monomeric GTP-Binding Proteins
Homologous Recombination
Intellectual Disability
90 Citations (Scopus)

Mutations in RAB39B cause X-linked intellectual disability and early-onset parkinson disease with α-synuclein pathology

Wilson, G. R., Sim, J. C. H., McLean, C., Giannandrea, M., Galea, C. A., Riseley, J. R., Stephenson, S. E. M., Fitzpatrick, E., Haas, S. A., Pope, K., Hogan, K. J., Gregg, R. G., Bromhead, C. J., Wargowski, D. S., Lawrence, C. H., James, P. A., Churchyard, A., Gao, Y., Phelan, D. G., Gillies, G. & 13 others, Salce, N., Stanford, L., Marsh, A. P. L., Mignogna, M. L., Hayflick, S. J., Leventer, R. J., Delatycki, M. B., Mellick, G. D., Kalscheuer, V. M., D'Adamo, P., Bahlo, M., Amor, D. J. & Lockhart, P. J., Dec 4 2014, In : American Journal of Human Genetics. 95, 6, p. 729-735 7 p.

Research output: Contribution to journalArticle

Synucleins
Intellectual Disability
Parkinson Disease
Pathology
Lewy Bodies
27 Citations (Scopus)

RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions

D'Adamo, P., Masetti, M., Bianchi, V., Morè, L., Mignogna, M. L., Giannandrea, M. & Gatti, S., Oct 1 2014, In : Neuroscience and Biobehavioral Reviews. 46, P2, p. 302-314 13 p.

Research output: Contribution to journalArticle

GTP Phosphohydrolases
Cognition
Monomeric GTP-Binding Proteins
Transport Vesicles
Proteins
2012
8 Citations (Scopus)

Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections

Bianchi, V., Gambino, F., Muzio, L., Toniolo, D., Humeau, Y. & D'Adamo, P., Jan 23 2012, In : PLoS One. 7, 1, e29763.

Research output: Contribution to journalArticle

Guanine Nucleotide Dissociation Inhibitors
amygdala
Prosencephalon
Amygdala
GTP Phosphohydrolases
17 Citations (Scopus)

Growth defects and impaired cognitivebehavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the williams-beuren syndrome critical region

Capossela, S., Muzio, L., Bertolo, A., Bianchi, V., Dati, G., Chaabane, L., Godi, C., Politi, L. S., Biffo, S., D'Adamo, P., Mallamaci, A. & Pannese, M., Mar 2012, In : American Journal of Pathology. 180, 3, p. 1121-1135 15 p.

Research output: Contribution to journalArticle

Williams Syndrome
Eukaryotic Initiation Factors
Aptitude
Knockout Mice
Growth
43 Citations (Scopus)

Subventricular zone neural progenitors protect striatal neurons from glutamatergic excitotoxicity

Butti, E., Bacigaluppi, M., Rossi, S., Cambiaghi, M., Bari, M., Cebrian Silla, A., Brambilla, E., Musella, A., De Ceglia, R., Teneud, L., De Chiara, V., D'Adamo, P., Garcia-Verdugo, J. M., Comi, G., Muzio, L., Quattrini, A., Leocani, L., MacCarrone, M., Centonze, D. & Martino, G., 2012, In : Brain. 135, 11, p. 3320-3335 16 p.

Research output: Contribution to journalArticle

Corpus Striatum
Adult Stem Cells
Neural Stem Cells
Lateral Ventricles
Stem Cells
102 Citations (Scopus)
Catenins
1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
Astrocytes
Parkinson Disease
Mesencephalon
2010
125 Citations (Scopus)

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H. H., Tzschach, A., Kalscheuer, V., Oehl-Jaschkowitz, B., Skinner, C., Schwartz, C. E., Gecz, J., Van Esch, H., Raynaud, M., Chelly, J. & 3 others, de Brouwer, A. P. M., Toniolo, D. & D'Adamo, P., Feb 12 2010, In : American Journal of Human Genetics. 86, 2, p. 185-195 11 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Megalencephaly
Monomeric GTP-Binding Proteins
Autistic Disorder
Epilepsy
12 Citations (Scopus)

Temporal gene expression profile of the hippocampus following trace fear conditioning

Sirri, A., Bianchi, V., Pelizzola, M., Mayhaus, M., Ricciardi-Castagnoli, P., Toniolo, D. & D'Adamo, P., Jan 13 2010, In : Brain Research. 1308, p. 14-23 10 p.

Research output: Contribution to journalArticle

Transcriptome
Fear
Hippocampus
Genes
Gene Expression Profiling
2009
37 Citations (Scopus)

Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training

Bianchi, V., Farisello, P., Baldelli, P., Meskenaite, V., Milanese, M., Vecellio, M., Mühlemann, S., Lipp, H. P., Bonanno, G., Benfenati, F., Toniolo, D. & D'Adamo, P., 2009, In : Human Molecular Genetics. 18, 1, p. 105-117 13 p.

Research output: Contribution to journalArticle

Neuronal Plasticity
Synaptic Vesicles
Guanine Nucleotide Dissociation Inhibitors
rab GTP-Binding Proteins
Learning
2008
22 Citations (Scopus)

Hyperactivity and novelty-induced hyperreactivity in mice lacking Rac3

Corbetta, S., D'Adamo, P., Gualdoni, S., Braschi, C., Berardi, N. & de Curtis, I., Jan 25 2008, In : Behavioural Brain Research. 186, 2, p. 246-255 10 p.

Research output: Contribution to journalArticle

rho GTP-Binding Proteins
Knockout Mice
Contrast Sensitivity
Aptitude
GTP Phosphohydrolases
2005
42 Citations (Scopus)

Aquaporin-8 is involved in water transport in isolated superficial colonocytes from rat proximal colon

Laforenza, U., Cova, E., Gastaldi, G., Tritto, S., Grazioli, M., LaRusso, N. F., Splinter, P. L., D'Adamo, P., Tosco, M. & Ventura, U., Oct 2005, In : Journal of Nutrition. 135, 10, p. 2329-2336 8 p.

Research output: Contribution to journalArticle

aquaporins
colon
Colon
Water Movements
Aquaporin 3
2004
68 Citations (Scopus)

Accelerated extinction of conditioned taste aversion in P301L tau transgenic mice

Pennanen, L., Welzl, H., D'Adamo, P., Nitsch, R. M. & Götz, J., Apr 2004, In : Neurobiology of Disease. 15, 3, p. 500-509 10 p.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Neurofibrillary Tangles
Transgenic Mice
tau Proteins
Amygdala
1 Citation (Scopus)

DNA variants in the human RAB3A gene are not associated with autism

D'Adamo, P., Bacchelli, E., Blasi, F., Lipp, H. P., Toniolo, D. & Maestrini, E., Apr 2004, In : Genes, Brain and Behavior. 3, 2, p. 123-124 2 p.

Research output: Contribution to journalArticle

Autistic Disorder
DNA
Attention Deficit Disorder with Hyperactivity
Knockout Mice
Genes
39 Citations (Scopus)
rab3A GTP-Binding Protein
Reversal Learning
Synaptic Vesicles
Neuronal Plasticity
Motor Activity
46 Citations (Scopus)

Midlatency auditory event-related potentials in mice: Comparison to midlatency auditory ERPs in humans

Umbricht, D., Vyssotky, D., Latanov, A., Nitsch, R., Brambilla, R., D'Adamo, P. & Lipp, H. P., Sep 3 2004, In : Brain Research. 1019, 1-2, p. 189-200 12 p.

Research output: Contribution to journalArticle

Evoked Potentials
Recovery of Function
Gene Deletion
Gene Knockout Techniques
Automatic Data Processing
2002
84 Citations (Scopus)

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice

D'Adamo, P., Welzl, H., Papadimitriou, S., Di Barletta, M. R., Tiveron, C., Tatangelo, L., Pozzi, L., Chapman, P. F., Knevett, S. G., Ramsay, M. F., Valtorta, F., Leoni, C., Menegon, A., Wolfer, D. P., Lipp, H. P. & Toniolo, D., Oct 1 2002, In : Human Molecular Genetics. 11, 21, p. 2567-2580 14 p.

Research output: Contribution to journalArticle

Social Behavior
Intellectual Disability
Genes
Monomeric GTP-Binding Proteins
Episodic Memory
2001
147 Citations (Scopus)

Conditioned taste aversion as a learning and memory paradigm

Welzl, H., D'Adamo, P. & Lipp, H. P., Nov 8 2001, In : Behavioural Brain Research. 125, 1-2, p. 205-213 9 p.

Research output: Contribution to journalArticle

Learning
Classical Conditioning
Nausea
Saccharin
Cyclic AMP Response Element-Binding Protein
2000
185 Citations (Scopus)

A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D'Adamo, P., Denvriendt, K., Fryns, J. P., Toniolo, D. & Renieri, A., 2000, In : American Journal of Human Genetics. 67, 4, p. 982-985 4 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Rett Syndrome
Mutation
X-Linked Genes
Genes
20 Citations (Scopus)

X-linked non-specific mental retardation

Toniolo, D. & D'Adamo, P., Jun 1 2000, In : Current Opinion in Genetics and Development. 10, 3, p. 280-285 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Cognition
Genes
Organism Cloning
1998
1 Citation (Scopus)

Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139))

D'Adamo, P., Menegon, A., Nigro, C. L., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A. K., Oostra, B., Wu, S. K., Tandon, A., Valtorta, F., Batch, W. E., Chelly, J. & Toniolo, D., 1998, In : Nature Genetics. 19, 3, p. 303 1 p.

Research output: Contribution to journalArticle

275 Citations (Scopus)

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

D'Adamo, P., Menegon, A., Nigro, C. L., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A. K., Oostra, B., Wu, S. K., Tandon, A., Valtorta, F., Balch, W. E., Chelly, J. & Toniolo, D., 1998, In : Nature Genetics. 19, 2, p. 134-139 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Guanine Nucleotide Dissociation Inhibitors
Mutation
Aptitude
Recycling
55 Citations (Scopus)

X chromosome inactivation in carriers of Barth syndrome

Ørstavik, K. H., Ørstavik, R. E., Naumova, A. K., D'Adamo, P., Gedeon, A., Bolhuis, P. A., Barth, P. G. & Toniolo, D., 1998, In : American Journal of Human Genetics. 63, 5, p. 1457-1463 7 p.

Research output: Contribution to journalArticle

Barth Syndrome
X Chromosome Inactivation
Mutation
Androgen Receptors
X Chromosome