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List of works by Jacopo C. DiFrancesco

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

scientific article published on 17 March 2012

Adjunctive Brivaracetam in Older Patients with Focal Seizures: Evidence from the BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST)

scientific article published on 28 March 2022

Adult-Onset Epilepsy in Presymptomatic Alzheimer's Disease: A Retrospective Study.

scientific article published on 28 September 2017

Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study

scientific article

Alpha-synuclein nitration and autophagy response are induced in peripheral blood cells from patients with Parkinson disease

scientific article published on 24 April 2010

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

scientific article published on 6 March 2017

Anti-A autoantibodies in the CSF of a patient with CAA-related inflammation: A case report

scientific article published on 01 March 2011

Anti-Aβ Autoantibodies in Amyloid Related Imaging Abnormalities (ARIA): Candidate Biomarker for Immunotherapy in Alzheimer's Disease and Cerebral Amyloid Angiopathy

scientific article

Artery of Percheron ischaemic stroke revealed by brain MRI DWI/ADC sequences

scientific article published on 2 December 2017

Autoimmune encephalopathy in Graves' disease: remission after total thyroidectomy.

scientific article published in June 2009

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

scientific article published on 14 February 2018

Brivaracetam as add-on treatment in patients with post-stroke epilepsy: real-world data from the BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST)

scientific article published in April 2022

Cardiac and neuronal HCN channelopathies

scientific article published on 18 May 2020

Cerebellar hematoma in a carrier of the A3243G MELAS mutation

scientific article published on 16 February 2011

Cerebral Amyloid Angiopathy-Related Inflammation: Report of a Case with Very Difficult Therapeutic Management.

scientific article

Cerebrospinal fluid levels of BAFF and APRIL in untreated multiple sclerosis

scientific article published on 11 February 2010

Coexistence of seizure episodes and symptomatic sinoatrial arrest occurring in two sisters suggests an underlying cardioneuronal channelopathy

scientific article published on 06 September 2013

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

scientific article published on 12 March 2020

Early Parkinsonism in a Senegalese girl with Lafora disease

scientific article published on 16 April 2020

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

scientific article published on 01 October 2018

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy

scientific article published on 14 September 2020

Generation and validation of algorithms to identify subjects with dementia using administrative data

scientific article published on 12 June 2019

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Human platelets express the synaptic markers VGLUT1 and 2 and release glutamate following aggregation

scientific article published on 30 June 2006

Huntington's disease and HDACi: would sulpiride and valproate be of therapeutic value?

scientific article

Idiopathic infratentorial superficial siderosis of the central nervous system: case report and review of literature

scientific article

Impaired occipital cerebrovascular reactivity as a biomarker for vascular β-amyloid

scientific article published on 08 July 2020

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.

scientific article published on 30 January 2018

Late-Onset Epilepsy With Unknown Etiology: A Pilot Study on Neuropsychological Profile, Cerebrospinal Fluid Biomarkers, and Quantitative EEG Characteristics

scientific article published on 15 April 2020

MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines

scientific article

Novel neurofibromatosis type 2 mutation presenting with status epilepticus

scientific article published on 01 March 2014

Prodromal Alzheimer's disease presenting as cerebral amyloid angiopathy-related inflammation with spontaneous amyloid-related imaging abnormalities and high cerebrospinal fluid anti-Aβ autoantibodies.

scientific article

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

scientific article published on 08 January 2019

Recurrence of Cerebral Amyloid Angiopathy-Related Inflammation: A Report of Two Cases from the iCAβ International Network.

scientific article

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

scientific article published on 20 March 2019

Sustained seizure freedom with adjunctive brivaracetam in patients with focal onset seizures

scientific article published on 26 March 2022

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy

scientific article published on 12 September 2014

Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation

scientific article published on 28 December 2015

Valproate and HDAC inhibition: a new epigenetic strategy to mitigate phenotypic severity in ALS?

scientific article published in September 2005

Valproate induces epigenetic modifications in lymphomonocytes from epileptic patients

scientific article published on 11 May 2012

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