List of works - Giuseppe Di Fede

A case of progressive frontal lobe syndrome in a sporadic form of Cerebral Amyloid Angiopathy: A singular overlap with fronto-temporal dementia?

scientific article published on 28 August 2015

A new function of microtubule-associated protein tau: involvement in chromosome stability

scientific article published on 25 June 2008

A new neurobehavioral phenotype of familial Creutzfeldt-Jakob disease: impaired theory of mind

scientific article published on 27 November 2018

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

scientific article published in January 2009

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings

scientific article

A novel phenotype of sporadic Creutzfeldt-Jakob disease

scientific article published on 02 February 2009

A novel phenotype of sporadic Creutzfeldt-Jakob disease.

scientific article

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

scientific article published on June 22, 2011

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

scientific article published on March 2009

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

scientific article

Altered Expression of Circulating Cdc42 in Frontotemporal Lobar Degeneration.

scientific article published in January 2018

Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family

scientific article

Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.

scientific article published on 15 August 2008

Atypical tauopathy with massive involvement of the white matter

scientific article published on 15 January 2008

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

article

Conversion of the BASE prion strain into the BSE strain: the origin of BSE?

scientific article

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

scientific article published on 14 July 2009

Divergent cognitive status with the same Braak stage of neurofibrillary pathology: does the pattern of amyloid-β deposits make the difference?

scientific article published on 01 January 2015

Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial.

scientific article published on 8 January 2014

Dreaming of a New World Where Alzheimer's Is a Treatable Disorder

scientific article published on 15 November 2019

Expression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity

scientific article

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

scientific article published on 6 June 2005

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

scientific article

Good gene, bad gene: new APP variant may be both

scientific article published on 19 June 2012

Hereditary and sporadic beta-amyloidoses ⬇️

scientific article published on June 1, 2013

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

scientific article published on August 2010

Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42

scientific article published on 02 May 2019

In Situ Tissue Labeling of Cerebral Amyloid Using HIV-Related Tat Peptide

scientific article published on 19 January 2018

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

scientific article published on 16 December 2010

MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain.

scientific article published on 21 February 2012

Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease

scientific article published in August 2015

Molecular subtypes of Alzheimer's disease.

scientific article published on 19 February 2018

Myoclonus in Creutzfeldt-Jakob disease: Polygraphic and video-electroencephalography assessment of 109 patients

scientific article published on 01 December 2010

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

scientific article published on 15 September 2010

Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing

scientific article

Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.

scientific article

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

scientific article published in March 2004

Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer's disease

scientific article published on 13 July 2018

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

scientific article (publication date: February 2004)

Specific recognition of biologically active amyloid-β oligomers by a new surface plasmon resonance-based immunoassay and an in vivo assay in Caenorhabditis elegans

scientific article published on 26 June 2012

Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc

scientific article published on 01 October 2005

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

scientific article published on 11 February 2016

The A2V mutation as a new tool for hindering Aβ aggregation: A neutron and x-ray diffraction study

scientific article published on 14 July 2017

The cell-permeable Aβ1-6A2VTAT(D) peptide reverts synaptopathy induced by Aβ1-42wt

scientific article

The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy

scientific article published on 28 January 2022

The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

scientific article published in February 2007

The new β amyloid-derived peptide Aβ1-6A2V-TAT(D) prevents Aβ oligomer formation and protects transgenic C. elegans from Aβ toxicity.

scientific article published on 11 January 2016

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly

scientific article

Translational Research in Alzheimer's and Prion Diseases

scientific article published on 20 November 2017

List of works by Giuseppe Di Fede

A case of progressive frontal lobe syndrome in a sporadic form of Cerebral Amyloid Angiopathy: A singular overlap with fronto-temporal dementia?

A new function of microtubule-associated protein tau: involvement in chromosome stability

A new neurobehavioral phenotype of familial Creutzfeldt-Jakob disease: impaired theory of mind

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings

A novel phenotype of sporadic Creutzfeldt-Jakob disease

A novel phenotype of sporadic Creutzfeldt-Jakob disease.

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration ⬇️

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

Altered Expression of Circulating Cdc42 in Frontotemporal Lobar Degeneration.

Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family

Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.

Atypical tauopathy with massive involvement of the white matter

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Conversion of the BASE prion strain into the BSE strain: the origin of BSE?

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

Divergent cognitive status with the same Braak stage of neurofibrillary pathology: does the pattern of amyloid-β deposits make the difference?

Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial.

Dreaming of a New World Where Alzheimer's Is a Treatable Disorder

Expression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Good gene, bad gene: new APP variant may be both

Hereditary and sporadic beta-amyloidoses ⬇️

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42

In Situ Tissue Labeling of Cerebral Amyloid Using HIV-Related Tat Peptide

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain.

Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease

Molecular subtypes of Alzheimer's disease.

Myoclonus in Creutzfeldt-Jakob disease: Polygraphic and video-electroencephalography assessment of 109 patients

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing

Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer's disease

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

Specific recognition of biologically active amyloid-β oligomers by a new surface plasmon resonance-based immunoassay and an in vivo assay in Caenorhabditis elegans

Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

The A2V mutation as a new tool for hindering Aβ aggregation: A neutron and x-ray diffraction study

The cell-permeable Aβ1-6A2VTAT(D) peptide reverts synaptopathy induced by Aβ1-42wt

The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy

The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

The new β amyloid-derived peptide Aβ1-6A2V-TAT(D) prevents Aβ oligomer formation and protects transgenic C. elegans from Aβ toxicity.

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly

Translational Research in Alzheimer's and Prion Diseases