List of works - Patrizia D'Adamo

2-Deoxy-d-Glucose Ameliorates PKD Progression

scientific article

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

scientific article

A Novel Mecp2 Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome

scientific article published on 06 November 2018

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

scientific article

A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

scientific article published in January 2019

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

scientific article published on 11 September 2017

A novel X-linked gene, G4.5. is responsible for Barth syndrome

scientific article

Accelerated extinction of conditioned taste aversion in P301L tau transgenic mice

scientific article

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

scientific article published on 11 January 2017

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

scientific article published on 02 January 2017

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

scientific article published on 28 November 2017

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.

scientific article

Conditioned taste aversion as a learning and memory paradigm.

scientific article

Critical importance of RAB proteins for synaptic function.

scientific article published on February 2017

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

scientific article published in April 2004

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

scientific article published in October 2002

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

scientific article published on 7 October 2016

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

scientific article published on 12 December 2014

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

scientific article

Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region

scientific journal article

Hyperactivity and novelty-induced hyperreactivity in mice lacking Rac3.

scientific article published on 22 August 2007

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

scientific article published on 12 March 2016

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

scientific article published on 13 January 2014

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

scientific article

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

scientific article

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

scientific article published in September 2004

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

scientific article

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

scientific article

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

scientific article published on 31 October 2016

Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/y Mice.

scientific article

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

scientific article published on 09 January 2014

Reactive astrocytes and Wnt/β-catenin signaling link nigrostriatal injury to repair in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of Parkinson's disease ⬇️

scientific article published on November 5, 2010

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

scientific article published on 10 January 2022

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

scientific article published on 23 February 2018

Subventricular zone neural progenitors protect striatal neurons from glutamatergic excitotoxicity.

scientific article published on 24 September 2012

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

scientific article published on 24 April 2015

Temporal gene expression profile of the hippocampus following trace fear conditioning

scientific article published on 24 October 2009

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

scientific article

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

scientific article

X chromosome inactivation in carriers of Barth syndrome

scientific article

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

scientific article published on 26 August 2017

X-linked non-specific mental retardation

scientific article

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies

scientific article published in September 1997

List of works by Patrizia D'Adamo

2-Deoxy-d-Glucose Ameliorates PKD Progression

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

A Novel Mecp2 Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome

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

A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

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

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Accelerated extinction of conditioned taste aversion in P301L tau transgenic mice

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

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

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

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.

Conditioned taste aversion as a learning and memory paradigm.

Critical importance of RAB proteins for synaptic function.

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

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

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

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

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

Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region

Hyperactivity and novelty-induced hyperreactivity in mice lacking Rac3.

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

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

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

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

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

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

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

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/y Mice.

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

Reactive astrocytes and Wnt/β-catenin signaling link nigrostriatal injury to repair in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of Parkinson's disease ⬇️

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

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

Subventricular zone neural progenitors protect striatal neurons from glutamatergic excitotoxicity.

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

Temporal gene expression profile of the hippocampus following trace fear conditioning

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

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

X chromosome inactivation in carriers of Barth syndrome

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

X-linked non-specific mental retardation

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies