Patrizia D'Adamo

fondazione telethon

H指数:34

被引数:4,645

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New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia

COMMUNICATIONS BIOLOGY

IF5.1

2024-01-305

OAAI

Zanardi, Alan; Nardini, Ilaria; Raia, Sara; Conti, Antonio; Ferrini, Barbara; D'Adamo, Patrizia; Gilberti, Enrica; Depalma, Giuseppe; Belloli, Sara; Monterisi, Cristina; Coliva, Angela; Rainone, Paolo; Moresco, Rosa Maria; Mori, Filippo; Zurlo, Giada; Scali, Carla; Natali, Letizia; Pancanti, Annalisa; Giovacchini, Pierangelo; Magherini, Giulio; Tovani, Greta; Salvini, Laura; Cicaloni, Vittoria; Tinti, Cristina; Tinti, Laura; Lana, Daniele; Magni, Giada; Giovannini, Maria Grazia; Gringeri, Alessandro; Caricasole, Andrea; Alessio, Massimo

Neural precursor cells tune striatal connectivity through the release of IGFBPL1

NATURE COMMUNICATIONS

IF15.7

2022-12-086

OAAI

Administration of aerosolized SARS-CoV-2 to K18-hACE2 mice uncouples respiratory infection from fatal neuroinvasion

SCIENCE IMMUNOLOGY

IF16.3

2022-01-2859

OAAI

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

NATURE COMMUNICATIONS

IF15.7

2022-01-1029

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model

HUMAN MOLECULAR GENETICS

IF3.2

2021-11-117

OAAI

RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour

MOLECULAR PSYCHIATRY

IF10.1

2021-05-2512

OAAI

Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse

METABOLISM-CLINICAL AND EXPERIMENTAL

IF11.9

2021-03-0117

OAAI

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

髓鞘蛋白零的无义突变通过改变P0膜靶向和获得异常功能而导致先天性髓鞘不足性神经病

HUMAN MOLECULAR GENETICS

IF3.2

2018-09-1915

OAAI

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

JOURNAL OF NEUROINFLAMMATION

IF10.1

2018-02-2322

OAAI

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

EMBO MOLECULAR MEDICINE

IF8.3

2017-11-2850

OAAI

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

PARKINSONISM & RELATED DISORDERS

IF3.4

2017-11-0129

PREAI

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

HUMAN MOLECULAR GENETICS

IF3.2

2017-09-1136

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2017-01-1140

OAAI

Sauer, Aisha V.; Hernandez, Raisa Jofra; Fumagalli, Francesca; Bianchi, Veronica; Poliani, Pietro L.; Dallatomasina, Chiara; Riboni, Elisa; Politi, Letterio S.; Tabucchi, Antonella; Carlucci, Filippo; Casiraghi, Miriam; Carriglio, Nicola; Cominelli, Manuela; Forcellini, Carlo Alberto; Barzaghi, Federica; Ferrua, Francesca; Minicucci, Fabio; Medaglini, Stefania; Leocani, Letizia; La Marca, Giancarlo; Notarangelo, Lucia D.; Azzari, Chiara; Comi, Giancarlo; Baldoli, Cristina; Canale, Sabrina; Sessa, Maria; D'Adamo, Patrizia; Aiuti, Alessandro

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

EMBO MOLECULAR MEDICINE

IF8.3

2016-10-3143

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2016-10-0731

OAAI

2-Deoxy-D-Glucose Ameliorates PKD Progression

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

IF9.4

2015-11-03144

OAAI

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

CELL DEATH AND DIFFERENTIATION

IF15.4

2015-04-2487

OAAI

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

NATURE COMMUNICATIONS

IF15.7

2015-03-1883

OAAI

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

BRAIN BEHAVIOR AND IMMUNITY

IF7.6

2015-03-0128

PREAI

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-12-01202

OAAI

Wilson, Gabrielle R.; Sim, Joe C. H.; McLean, Catriona; Giannandrea, Maila; Galea, Charles A.; Riseley, Jessica R.; Stephenson, Sarah E. M.; Fitzpatrick, Elizabeth; Haas, Stefan A.; Pope, Kate; Hogan, Kirk J.; Gregg, Ronald G.; Bromhead, Catherine J.; Wargowski, David S.; Lawrence, Christopher H.; James, Paul A.; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G.; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P. L.; Mignogna, Maria L.; Hayflick, Susan J.; Leventer, Richard J.; Delatycki, Martin B.; Mellick, George D.; Kalscheuer, Vera M.; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David J.; Lockhart, Paul J.

Patrizia D'Adamo

个人简介

教育背景

工作经历

荣誉奖项

研究方向