A. Federico

N. De Stefano, M. Ewers, M. Dichgans, 2016, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

G. Gigli, C. Cereda, A. Federico, 2018, Front. Neurol..

Evidence of diffuse damage in frontal and occipital cortex in the brain of patients with post-traumatic stress disorder

M. Battaglini, A. Federico, N. Stefano, 2012, Neurological Sciences.

Relevance of Brain Lesion Location to Cognition in Relapsing Multiple Sclerosis

M. Battaglini, A. Giorgio, A. Federico, 2012, PloS one.

Practical recommendations for the process of proposing, planning and writing a neurological management guideline by EAN task forces

A. Schapira, A. Federico, G. Deuschl, 2015, European journal of neurology.

1H-MR Spectroscopy in Traumatic Brain Injury

S. Marino, P. Bramanti, A. Federico, 2011, Neurocritical care.

Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective).

A. Federico, 2013, Revue neurologique.

On the Personal Facets of Quality of Life in Chronic Neurological Disorders

A. Federico, A. Giovagnoli, A. M. da Silva, 2009, Behavioural neurology.

Acute metabolic brain changes following traumatic brain injury and their relevance to clinical severity and outcome

M. Battaglini, S. Marino, P. Bramanti, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

J. Finsterer, C. Enzinger, M. Mancuso, 2020, European journal of neurology.

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing

A. Federico, A. Tessa, A. Malandrini, 2017, Journal of the Neurological Sciences.

Right-to-Left Shunt in CADASIL Patients: Prevalence and Correlation With Clinical and MRI Findings

A. Federico, G. Cevenini, M. Dotti, 2008, Stroke.

Perilesional edema in brain cancer: Independent prognosticator or epiphenomenon of biomolecular signature?

A. Federico, L. Pirtoli, A. Cerase, 2018, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Apoptosis and oxidative stress in neurodegenerative diseases.

A. Federico, C. Battisti, P. Formichi, 2014, Journal of Alzheimer's disease : JAD.

Magnetic resonance imaging findings in Leber's hereditary optic neuropathy.

A. Federico, M. Dotti, N. Caputo, 1992, European neurology.

Primary familial brain calcification: update on molecular genetics

A. Federico, M. Dotti, V. Bonifati, 2015, Neurological Sciences.

Oxidative-stress-induced apoptosis in PBLs of two patients with Parkinson disease secondary to alpha-synuclein mutation

A. Federico, C. Battisti, P. Formichi, 2008, Journal of the Neurological Sciences.

Position paper of the Italian Society for the study of Dementias (Sindem) on the proposal of a new Lexicon on Alzheimer disease

S. Cappa, C. Caltagirone, S. Sorbi, 2012, Neurological Sciences.

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

M. Battaglini, A. Federico, N. Stefano, 2011, Journal of Neurology.

Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

A. Federico, C. Bruno, R. Massa, 2008, Muscle & nerve.

Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study

M. Battaglini, A. Federico, N. Stefano, 2006, Journal of the Neurological Sciences.

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene

A. Federico, N. Stefano, A. Malandrini, 2006, Neuromuscular Disorders.

Giant axonal neuropathy with subclinical involvement of the central nervous system: Case report

A. Federico, A. Malandrini, M. Dotti, 1998, Journal of the Neurological Sciences.

Amiodarone‐induced parkinsonism: A case report and pathogenetic discussion

A. Federico, M. Dotti, 1995, Movement disorders : official journal of the Movement Disorder Society.

Muscle respiratory chain enzyme activities in parkinson's disease and in multisystem extrapyramidal disorders with parkinsonism as the main clinical feature.

A. Federico, M. Dotti, C. Battisti, 1994, Archives of gerontology and geriatrics.

A Rett syndrome MECP2 mutation that causes mental retardation in men

A. Federico, M. Dotti, C. Lam, 2002, Neurology.

Glycoprofiling of N-linked serum protein: an aging biomarker?

R. Contreras, A. Federico, C. Libert, 2005 .

Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum

A. Federico, A. Malandrini, M. Dotti, 2017, Brain and Development.

Brain Awareness Week, CoVID-19 infection and Neurological Sciences

A. Federico, 2020, Neurological Sciences.

Cherry-red spot myoclonus syndrome (type I sialidosis).

G. Guazzi, A. Federico, N. Stefano, 1991, Developmental neuroscience.

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

A. Federico, M. Dotti, S. Calandra, 2000, Movement disorders : official journal of the Movement Disorder Society.

Electron‐dense lamellated inclusions in 2 siblings with Kufor–Rakeb syndrome

A. Federico, A. Malandrini, C. Battisti, 2013, Movement disorders : official journal of the Movement Disorder Society.

Primary cilium alterations and expression changes of Patched1 proteins in niemann‐pick type C disease

A. Federico, M. D. de Santi, S. Tripodi, 2018, Journal of cellular physiology.

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

F. Ginanneschi, A. Federico, M. Dotti, 2014, Journal of the Neurological Sciences.

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4

A. Rossi, F. Ginanneschi, A. Federico, 2014, Neurological Sciences.

Chorein detection for the diagnosis of chorea‐acanthocytosis

A. Monaco, A. Lang, A. Danek, 2004, Annals of neurology.

Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy.

G. Guazzi, A. Federico, A. Malandrini, 1992, Clinical neuropathology.

Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis.

A. Federico, M. Dotti, D. Lütjohann, 1996, Journal of lipid research.

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

A. Federico, R. Steiner, M. Dotti, 2021, Orphanet Journal of Rare Diseases.

Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.

A. Federico, M. Dotti, S. Bertolini, 1996, Journal of lipid research.

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

A. Federico, M. Dotti, A. Brusco, 2015, Journal of Alzheimer's disease : JAD.

Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2004, European journal of neurology.

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism

F. Ginanneschi, A. Federico, A. Tessa, 2014, Journal of Neurology.

Visual system involvement in CADASIL.

A. Federico, M. Dotti, F. Rosini, 2013, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Typical pathological changes of CADASIL in the optic nerve

A. Federico, A. Malandrini, M. Dotti, 2005, Neurological Sciences.

The spectrum of Notch3 mutations in 28 Italian CADASIL families

L. Pantoni, D. Inzitari, A. Federico, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency

A. Federico, M. Dotti, C. Battisti, 1998, Brain and Development.

Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts

M. Battaglini, A. Giorgio, A. Federico, 2014, Neurological Sciences.

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

E. Bertini, S. Ferdinandusse, H. Waterham, 2012, JIMD reports.

A case of ovarioleukodystrophy without eIF2B mutations

A. Federico, N. Stefano, C. Battisti, 2008, Journal of the Neurological Sciences.

Leukoencephalopathy as a rare complication of hepatitis C infection

A. Federico, N. Stefano, A. Malandrini, 2006, Neurological Sciences.

Hereditary cerebral small vessel diseases: A review

A. Federico, M. Dotti, S. Bianchi, 2012, Journal of the Neurological Sciences.

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis

L. Optican, M. Battaglini, A. Federico, 2017, The Journal of physiology.

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting

A. Federico, A. Malandrini, R. Rocchi, 2012, Epileptic disorders : international epilepsy journal with videotape.

Increase of serum levels of vitamin E during human aging: Is it a protective factor against death?

A. Federico, M. Dotti, C. Battisti, 1994, Archives of gerontology and geriatrics.

Retinochoroidal atrophy in two adult patients with Angelman syndrome

A. Federico, M. Dotti, C. Battisti, 2003, American journal of medical genetics. Part A.

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

A. Rossi, A. Federico, A. Pinto, 2015, Journal of the Neurological Sciences.

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

A. Federico, A. Malandrini, M. Dotti, 2010, Journal of Neurology.

Treatment of SPG5 with cholesterol-lowering drugs

F. Ginanneschi, A. Federico, A. Tessa, 2015, Journal of Neurology.

Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

E. Bertini, M. Tosetti, G. Cioni, 2009, Human mutation.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

A. Brice, G. Stevanin, A. Federico, 2009, Journal of the Neurological Sciences.

MERRF syndrome . mitochondrial tRNALeu ( UUR ) may cause an The A to G transition at nt 3243 of the

G. Guazzi, A. Federico, G. Grieco, 2003 .

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease

L. Pantoni, D. Inzitari, A. Federico, 2017, CNS neuroscience & therapeutics.

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease

R. Marconi, A. Federico, M. Dotti, 2016, Neurological Sciences.

Imaging of the thymus in myotonic dystrophy type 1

A. Federico, P. Brunori, M. Mazzei, 2018, Neurological Sciences.

Commentary to mitDNA research for the pathogenesis of mitochondrial disorders.

A. Federico, P. Da Pozzo, 2005, Biochemical and biophysical research communications.

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

E. Bertini, M. Tosetti, A. Durr, 2006, Neurogenetics.

Type 3 (chronic) GM1 gangliosidosis presenting as infanto‐choreo‐athetotic dementia, without epilepsy, in three sisters

G. Guazzi, A. Federico, F. Van hoof, 1988, Neurology.

Oxidative stress-induced apoptosis in two patients with Alagille syndrome

A. Federico, C. Battisti, P. Formichi, 2011, Journal of the Neurological Sciences.

From the liver to the brain: manganese matters

A. Federico, A. Mignarri, 2014, Neurological Sciences.

Clinical and MRI improvement in a case of progressive multifocal leukoencephalopathy

G. Garosi, A. Federico, A. De Luca, 2017, Neurological Sciences.

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A. Federico, A. Filla, A. Tessa, 2008, Journal of Neurology.

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

A. Federico, M. Dotti, G. Gallus, 2014, Journal of Inherited Metabolic Disease.

Four novel CYP27A1 mutations in seven Italian patients with CTX

A. Federico, M. Dotti, E. Cardaioli, 2010, European journal of neurology.

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

A. Federico, M. Dotti, G. Gallus, 2006, Neurological Sciences.

Cerebrotendinous Xanthomatosis

A. Federico, M. Dotti, 2003, Journal of child neurology.

Vitamin E serum levels and gastric cancer: results from a cohort of patients in Tuscany, Italy.

A. Federico, F. Roviello, C. Vindigni, 2000, Cancer letters.

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

A. Federico, M. Dotti, I. Di Donato, 2014, Journal of Alzheimer's disease : JAD.

Homozygosity and severity of phenotypic presentation in a CADASIL family

A. Federico, A. Malandrini, M. Dotti, 2013, Neurological Sciences.

The spectrum of mutations for CADASIL diagnosis

A. Federico, M. Dotti, S. Bianchi, 2005, Neurological Sciences.

Genetic leukoencephalopathies with unknown metabolic pathogenesis

A. Federico, M. Dotti, C. Battisti, 2001, Neurological Sciences.

Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis.

S. Sorbi, B. Nacmias, A. Federico, 2004, Archives of neurology.

Cerebral hemorrhages in CADASIL: Report of four cases and a brief review

L. Pantoni, D. Inzitari, A. Federico, 2013, Journal of the Neurological Sciences.

Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients

A. Federico, M. Dotti, C. Battisti, 2009, Journal of cellular physiology.

Peripheral neuropathy in CADASIL

A. Federico, N. Stefano, A. Malandrini, 2005, Journal of Neurology.

Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

A. Federico, M. Dotti, A. Caporossi, 2004, Archives of neurology.

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

A. Federico, A. Malandrini, M. Dotti, 2004, Archives of neurology.

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.

A. Federico, A. Quattrone, M. Muglia, 2001, Archives of neurology.

Heteroplasmy of the A3243G transition of mitochondrial tRNALeu(UUR) in a MELAS case and in a 25-week-old miscarried fetus

A. Federico, G. Grieco, M. Dotti, 2000, Journal of Neurology.

The spectrum of mutations for the diagnosis of vanishing white matter disease

A. Federico, C. D. Perri, O. Scali, 2006, Neurological Sciences.

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene

Eleonora P. Giorgi, A. Federico, M. Dotti, 2015, Journal of the Neurological Sciences.

Cerebrolysin administration reduces oxidative stress-induced apoptosis in limphocytes from healthy individuals

A. Federico, D. Muresanu, C. Battisti, 2012, Journal of cellular and molecular medicine.

Primary familial brain calcification: Genetic analysis and clinical spectrum

A. Federico, M. Dotti, P. Martinelli, 2014, Movement disorders : official journal of the Movement Disorder Society.

Ten-Year Brain Atrophy and Disability Changes in Patients with Multiple Sclerosis (P03.065)

M. Battaglini, A. Giorgio, A. Federico, 2012 .

Diffuse axonal and tissue injury in patients with multiple sclerosis with low cerebral lesion load and no disability.

Antonio Federico, Sridar Narayanan, Douglas L Arnold, 2002, Archives of neurology.

Increased apoptotic response to 2-deoxy-d-ribose in ataxia-telangiectasia

A. Federico, P. Tosi, S. Tripodi, 1996, Journal of the Neurological Sciences.

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene

A. Federico, M. Dotti, C. Battisti, 2014, Journal of Neurology.

Brain mitochondrial impairment in ethylmalonic encephalopathy

A. Federico, N. Stefano, P. Balestri, 2004, Journal of Neurology.

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

A. Federico, M. Dotti, L. Manneschi, 1995, Journal of the Neurological Sciences.

Muscle mitochondrial changes in cerebrotendinous xanthomatosis

A. Federico, M. Dotti, N. Volpi, 1991, Annals of neurology.

Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders

A. Federico, M. Dotti, F. Giannini, 2016, Journal of the Neurological Sciences.

Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene

A. Federico, C. Battisti, P. Formichi, 2012, Journal of cellular and molecular medicine.

Psychosine‐induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients

A. Federico, P. Lazzerini, F. Laghi-Pasini, 2007, Journal of cellular physiology.

Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment

A. Federico, M. Dotti, R. Nuti, 2012, Calcified Tissue International.

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.

A. Federico, A. Malandrini, E. Cardaioli, 2011, Brain : a journal of neurology.

A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778

A. Federico, M. Dotti, E. Cardaioli, 1998, Journal of Neurology.

Hereditary spastic paraplegia type 11 with a very late onset

A. Federico, A. Tessa, F. Santorelli, 2015, Journal of Neurology.

New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)

A. Federico, M. de Visser, 2021, Neurological Sciences.

Fatty Acid Mitochondrial Disorders

H. Reichmann, A. Federico, C. Angelini, 2010 .

Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

H. Reichmann, A. Federico, C. Angelini, 2006, European journal of neurology.

Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia

A. Federico, A. Malandrini, M. Dotti, 2008, Anesthesiology.

Leber’s Hereditary Optic Neuropathy associated with cocaine, ecstasy and telithromycin consumption

A. Federico, M. Dotti, A. Caporossi, 2007, Journal of Neurology.

Imaging brain damage in first‐degree relatives of sporadic and familial multiple sclerosis

M. Battaglini, A. Federico, A. Spissu, 2006, Annals of neurology.

A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up

A. Federico, P. Galluzzi, C. Battisti, 2018, Neurological Sciences.

Alzheimer’s disease: the controversial approval of Aducanumab

P. Tiraboschi, A. Federico, F. Tagliavini, 2021, Neurological Sciences.

Hydroxychloroquine neuromyotoxicity: a case with rapid course and complete recovery

A. Federico, A. Malandrini, A. Fioravanti, 2015, Neurological Sciences.

High frequency of OPA1 mutations causing high ADOA prevalence in south‐eastern Sicily, Italy

A. Federico, L. Pavone, E. Cardaioli, 2012, Clinical genetics.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

A. Federico, A. Filla, A. Gallo, 2021, Neurological Sciences.

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

K. Devriendt, A. Federico, A. Verri, 2004, Annales de genetique.

THE SIENA 25 YEARS EXPERIENCE ON RARE NEUROLOGICAL DISEASES

A. Federico, 2009 .

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

A. Federico, C. Battisti, S. Bianchi, 2016, Neurological Sciences.

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT‐2 expression and localization

A. Federico, A. Tessa, C. Battisti, 2018, Journal of cellular physiology.

Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view

A. Federico, M. Dotti, C. Battisti, 2009, Neurological Sciences.

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

E. Malfatti, A. Federico, A. Malandrini, 2010, Neurological Sciences.

Autonomic Dysfunction in Mental Retardation and Spastic Paraparesis With MECP2 Mutation

A. Federico, M. Dotti, C. Battisti, 2004, Journal of child neurology.

GM2 gangliosidosis with hexosaminidase A and B defect: Report of a family with motor neuron disease-like phenotype

A. Rossi, G. Guazzi, A. Federico, 1986, Journal of Inherited Metabolic Disease.

Can untreated PKU patients escape from intellectual disability? A systematic review

A. Federico, C. V. van Karnebeek, C. Hollak, 2018, Orphanet Journal of Rare Diseases.

Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed

A. Federico, S. Tripodi, C. Battisti, 2017, Journal of the Neurological Sciences.

Polarographic analyses of subsarcolemmal and intermyofibrillar mitochondria from rat skeletal and cardiac muscle

A. Federico, L. Manneschi, 1995, Journal of the Neurological Sciences.

Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system

G. Scarano, A. Federico, N. Stefano, 1996, Brain and Development.

Juvenile dystonia without vertical gaze paralysis: Niemann-Pick type C disease

G. Guazzi, A. Federico, S. Palmeri, 1986, Journal of Inherited Metabolic Disease.

Tarlov cysts: clinical evaluation of an italian cohort of patients

A. Federico, A. Rubegni, I. Di Donato, 2014, Neurological Sciences.

Tarlov’s cyst as an underestimated cause of persistent genital arousal disorder: a case report and review

A. Federico, Salvatore Ferrone, G. Flora, 2020, Neurological Sciences.

Tarlov Cysts: clinical evaluation of an Italian cohort of patients

A. Federico, D. Marino, 2014, Neurological Sciences.

Italian neurology: past, present and future.

A. Federico, 2011, Functional Neurology.

The past and present of Italian neurology

G. Comi, A. Federico, 2012, Neurology.

Accurate, Robust, and Automated Longitudinal and Cross-Sectional Brain Change Analysis

Stephen M. Smith, Mark Jenkinson, Paul M. Matthews, 2002, NeuroImage.

Videolaparoscopy as rescue therapy and placement of peritoneal dialysis catheters: a thirty-two case single centre experience.

A. Federico, R. Marinelli, S. Santarelli, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

P. Rubegni, A. Federico, S. Mondillo, 2001, Human mutation.

Efficacy and Safety of Intravenous Immunoglobulin Treatment in Refractory Behcet's Disease with Different Organ Involvement: A Case Series.

A. Federico, E. Silvestri, M. Galeazzi, 2016, The Israel Medical Association journal : IMAJ.

Cavernous sinus syndrome due to neurosarcoidosis in adolescence: a diagnosis not to be missed

A. Federico, P. Rottoli, F. Rosini, 2017, Neurological Sciences.

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

S. Bowman, M. Dubé, A. Federico, 2007, PloS one.

Sanfilippo B syndrome (MPS III B): Case report with analysis of CSF mucopolysaccharides and conjunctival biopsy

A. Federico, G. Iorio, P. Natale, 2004, Journal of Neurology.

Idiopathic bilateral facial palsy: is a causative role of anti-GM1 ganglioside and herpes simplex type 1 possible?

A. Federico, F. Rosini, A. Rufa, 2012, Neurological Sciences.

The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: A morphological ultrastructural study of the cornea and the conjunctiva

A. Federico, G. Crecchio, A. Cecio, 1987, International Ophthalmology.

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

B. Oostra, G. Cossu, A. Federico, 2012, American journal of human genetics.

Evaluating the Influence of Motor Control on Selective Attention through a Stochastic Model: The Paradigm of Motor Control Dysfunction in Cerebellar Patient

Giacomo Veneri, Antonio Federico, Alessandra Rufa, 2014, BioMed research international.

Evaluating the human ongoing visual search performance by eye tracking application and sequencing tests

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2012, Comput. Methods Programs Biomed..

Evaluating gaze control on a multi-target sequencing task: The distribution of fixations is evidence of exploration optimisation

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2012, Comput. Biol. Medicine.

Evaluating human visual search performance by Monte Carlo methods and heuristic model

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2010, Proceedings of the 10th IEEE International Conference on Information Technology and Applications in Biomedicine.

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis

A. Federico, M. Dotti, G. Gallus, 2016, Journal of Inherited Metabolic Disease.

Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism

A. Federico, F. Rosini, L. Monti, 2014, Journal of Neurology.

Brain glycosidases in Creutzfeldt-Jakob disease

A. Federico, P. Annunziata, 1981, Journal of the Neurological Sciences.

Neuromyotonia as paraneoplastic manifestation of bladder carcinoma

A. Federico, C. Battisti, E. Pretegiani, 2009, Journal of the Neurological Sciences.

Eye movement changes in autosomal dominant spinocerebellar ataxias

A. Federico, M. Dotti, C. Battisti, 2020, Neurological Sciences.

Dysautonomic achalasia in two siblings with Sandhoff disease

A. Federico, M. Dotti, M. Pellegrini, 2006, Journal of the Neurological Sciences.

Neurochemical changes in creutzfeldt-jakob disease

A. Federico, P. Annunziata, G. Malentacchi, 2004, Journal of Neurology.

GLYCOPROTEIN CHANGES DURING THE DEVELOPMENT OF HUMAN BRAIN

A. Federico, N. Milici, C. Benedetta, 1978, Journal of neurochemistry.

Urinary oligosaccharides in lysosomal and other metabolic disorders

G. Guazzi, A. Federico, Giancarlo Guazzi, 1982, The Italian Journal of Neurological Sciences.

Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder

E. Santarnecchi, A. Federico, N. Stefano, 2013, The Cerebellum.

The European Reference Network for Rare Neurological Diseases

E. Bertini, R. Vandenberghe, L. Schöls, 2021, Frontiers in Neurology.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Transient “sicca syndrome” during phenobarbital treatment

A. Federico, A. Malandrini, R. Rocchi, 2011, Journal of the Neurological Sciences.

Physiology and pathology of notch signalling system

A. Federico, M. Dotti, S. Bianchi, 2006, Journal of cellular physiology.

Primary familial brain calcification caused by MYORG mutations in an Italian family.

A. Federico, M. Dotti, G. Breedveld, 2019, Parkinsonism & related disorders.

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression

A. Federico, A. Malandrini, S. Bartolini, 1993, Brain and Development.

Wide-Ranging Analysis of MicroRNA Profiles in Sporadic Amyotrophic Lateral Sclerosis Using Next-Generation Sequencing

B. De Felice, A. Federico, E. Biffali, 2018, Front. Genet..

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

A. Federico, M. Dotti, S. Giglio, 2003, American journal of medical genetics. Part A.

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

A. Federico, C. Bruno, A. Malandrini, 2004, Neurology.

Late diagnosis in severe and mild intellectual disability in adulthood.

A. Federico, E. Pucci, L. Nespoli, 2004, Journal of intellectual disability research : JIDR.

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

A. Federico, M. Dotti, M. Stromillo, 2004, Archives of neurology.

Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

M. Battaglini, L. Pantoni, D. Inzitari, 2017, Neurological Sciences.

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients

L. Pantoni, D. Inzitari, A. Federico, 2014, Journal of Neurology.

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: A Screening Tool to Select Patients for NOTCH3 Gene Analysis

L. Pantoni, D. Inzitari, S. Chiti, 2012, Stroke.

First report of an Iraqi Kurdish CADASIL patient

A. Federico, A. Malandrini, M. Dotti, 2011, Neurological Sciences.

Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

B. Giusti, A. Gori, R. Abbate, 2009 .

Plasma Levels of Asymmetric Dimethylarginine in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy

A. Federico, G. Cevenini, M. Dotti, 2008, Cerebrovascular Diseases.

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

L. Pantoni, D. Inzitari, A. Poggesi, 2008, Journal of the Neurological Sciences.

Cardiac Autonomic Nervous System and Risk of Arrhythmias in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

A. Federico, G. Cevenini, M. Dotti, 2007, Stroke.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a proteiform neurological disease of expanding importance. Reasons for establishing an Italian Registry

D. Inzitari, A. Federico, A. Quattrone, 2006, Neurological Sciences.

Systemic Blood Pressure Profile in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

A. Federico, G. Cevenini, M. Dotti, 2005, Stroke.

Association of myopathy with multiple exostoses and mental retardation: a case report

A. Federico, N. Stefano, A. Malandrini, 1994, Brain and Development.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

M. Poot, A. Federico, D. Schindler, 2017, Human mutation.

Fulminant intravascular lymphomatosis mimicking acute haemorrhagic leukoencephalopathy

A. Federico, M. Cintorino, S. Tripodi, 2012, Journal of the Neurological Sciences.

Oral self-mutilation in a patient with rhombencephalosynapsys.

A. Federico, A. Verri, M. Ceroni, 2000, Journal of intellectual disability research : JIDR.

[Rubinstein-Taybi syndrome with multiple keloids].

A. Federico, L. Loffredo, A. Sammartino, 1986, Journal francais d'ophtalmologie.

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

J. Rommens, F. Andermann, J. Janszky, 1997, Nature Genetics.

Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day

A. Federico, 2020, Neurological Sciences.

Chronic progressive leptomeningitis associated with measles virus

A. Federico, L. Palma, L. Leoncini, 1997, The Lancet.

Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report

A. Federico, A. Malandrini, F. Rosini, 2019, Neurological Sciences.

Next-generation sequencing approach to hyperCKemia

E. Mercuri, A. Federico, G. Siciliano, 2019, Neurology: Genetics.

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

A. Federico, L. Pavone, E. Cardaioli, 2010, Molecular vision.

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

I. Scheffer, D. Ledbetter, Í. Lopes-Cendes, 2002, Brain : a journal of neurology.

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report

A. Federico, A. Malandrini, G. Fabrizi, 1993, Acta Neuropathologica.

Demyelinating polyneuropathy in a case of anti‐LGI1 encephalitis

A. Federico, C. Battisti, Gemma Tumminelli, 2017, Muscle & nerve.

Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia

G. Guazzi, A. Federico, F. Cornelio, 1988, The Italian Journal of Neurological Sciences.

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

A. Federico, M. Dotti, S. Censini, 1998, American journal of medical genetics.

Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis

A. Federico, A. Malandrini, M. Dotti, 2004 .

McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

A. Monaco, A. Federico, J. Rubio, 2000, Movement disorders : official journal of the Movement Disorder Society.

Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype

A. Rossi, A. Federico, N. Rizzuto, 1989, The Italian Journal of Neurological Sciences.

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

A. Federico, M. Dotti, C. Battisti, 2003, Movement disorders : official journal of the Movement Disorder Society.

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

V. Micheli, A. Federico, M. Dotti, 2011, Journal of Neurology.

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre‐mRNA splicing in Niemann‐Pick type C disease

A. Federico, C. Battisti, P. Tarugi, 2004, Human mutation.

A new missense mutation in caveolin-3 gene causes rippling muscle disease

A. Federico, N. Stefano, A. Malandrini, 2006, Journal of the Neurological Sciences.

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

A. Federico, B. Bembi, C. Battisti, 2002, Journal of lipid research.

[Oculopharyngeal myopathy. Histochemical observation of the muscles and concentration of immunoglobulins in the serum of an Italian family].

A. Federico, A. Filla, G. Campanella, 1975, Revue neurologique (Paris).

The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

A. Federico, M. Mazzei, A. Malandrini, 2012, Neuromuscular Disorders.

Two novel HTRA1 mutations in a European CARASIL patient

A. Federico, M. Dotti, D. Muresanu, 2014, Neurology.

Hereditary macular degeneration: A genetic, clinical and biochemical study

A. Federico, G. Crecchio, A. Sammartino, 1983 .

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models

A. Federico, L. Leoncini, P. Formichi, 2012, Journal of cellular physiology.

Selective ipsilateral neuromuscular involvement in a case of facial and somatic hemiatrophy

A. Federico, A. Malandrini, M. Dotti, 1997, Muscle & nerve.

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

V. Petruzzella, A. Federico, A. Tessa, 2007, Biochemical and biophysical research communications.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

A. Federico, N. Wood, M. Davis, 1998, Brain : a journal of neurology.

Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group

J. Attems, M. Sarazin, R. Perneczky, 2016, BMC Medicine.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient

A. Federico, M. Dotti, C. Battisti, 2009, Neurological Sciences.

Mitochondrial dysfunction in Rett syndrome An ultrastructural and biochemical study

A. Federico, N. Stefano, A. Malandrini, 1993, Brain and Development.

Behçet's disease: an unusual case with bilateral obliterating retinal panarteritis and ischemic optic atrophy.

A. Federico, G. Di Iorio, R. Cotrufo, 1980, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

MECP2 mutation in male patients with non‐specific X‐linked mental retardation

A. Federico, M. Dotti, C. Lam, 2000, FEBS letters.

Sanfilippo A syndrome (Mucopolysaccharidosis III A): a neurochemical study

G. Guazzi, A. Federico, J. Robert, 1981, The Italian Journal of Neurological Sciences.

Glycoconjugate changes during aging of rat and human brain

A. Federico, 1983, AGE.

Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy

A. Federico, N. D. Auria, 1979, Journal of Neurology.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

A. Federico, M. Dotti, R. Franceschini, 2017, Journal of the Neurological Sciences.

Normal rhodanese activity in leukocytes from Leber patients

G. Guazzi, A. Federico, P. Martelli, 1987, Neurology.

Anderson-Fabry's disease: Neuropathological and neurochemical investigation

A. Federico, F. Tagliavini, V. Pietrini, 2004, Acta Neuropathologica.

Stability of lysosomal enzyme activity in post-mortem rat brain.

A. Federico, P. Annunziata, 1979, Acta neurologica.

Changes of brain glyco-conjugates in Unverricht-Lundborg's disease.

G. Guazzi, A. Federico, R. Corona, 1978, Acta neurologica.

Glycosaminoglycans and glycoproteins in metachromatic leucodystrophy.

G. Guazzi, A. Federico, C. Di Benedetta, 1977, European neurology.

MR brain imaging of fucosidosis type I.

A. Federico, P. Balestri, P. Galluzzi, 2001, AJNR. American journal of neuroradiology.

News on the journal Neurological Sciences in 2017

A. Federico, I. Donato, 2017, Neurological Sciences.

A case of reversible cerebral vasoconstriction syndrome and cavernous hemangioma: just a coincidence?

A. Federico, C. Battisti, S. Leonini, 2018, Neurological Sciences.

A case of dystonia with onset during pregnancy

A. Federico, A. Malandrini, M. Dotti, 2007, Journal of the Neurological Sciences.

Epilepsy with Bilateral Occipital Calcifications: Sturge‐Weber Variant or a Different Encephalopathy?

A. Federico, M. Piccirilli, C. Battisti, 1993, Epilepsia.

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

M. A. Croce, R. Tiozzo, A. Federico, 1997, Journal of lipid research.

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases

M. Fichera, C. Romano, A. Federico, 2006, Neurological Sciences.

Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay

A. Federico, M. Dotti, F. Giannini, 2011, The International journal of neuroscience.

Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations.

A. Federico, M. Dotti, F. Moschini, 1989, American journal of medical genetics.

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

R. Tiozzo, A. Federico, S. Bertolini, 1996, Journal of lipid research.

Post‐Dilution Hemodiafiltration With a Heparin‐Grafted Polyacrylonitrile Membrane

A. Federico, G. Frascà, G. Mosconi, 2015, Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy.

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

C. Di Perri, A. Federico, A. Malandrini, 2006, Neurology.

Recurrent venous thrombosis including cerebral venous sinus thrombosis in a patient taking sildenafil for erectile dysfunction

A. Giorgio, A. Federico, M. Dotti, 2007, Journal of the Neurological Sciences.

The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL

A. Federico, M. Dotti, A. Bruni, 2013, Neurobiology of Aging.

R. Marconi, A. Federico, M. Dotti, 2018, Acta neurologica Scandinavica.

Diagnostic capability of ultrasound in peritoneal catheter malfunction compared to videolaparoscopy

A. Federico, A. Granata, R. Dell'aquila, 2021, Peritoneal Dialysis International.

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

L. Pantoni, D. Inzitari, A. Federico, 2014, Stroke.

Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy

A. Federico, M. Dotti, P. Sabatelli, 1988, Journal of Inherited Metabolic Disease.

Leber’s hereditary optic neuropathy: from the clinical to the neurobiochemical and molecular findings for understanding the pathogenesis of the disorder

A. Federico, 1991 .

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

E. Bertini, O. Gabrielli, A. D’Amico, 2015, Orphanet Journal of Rare Diseases.

Hypoplasia of the corpus callosum in Niemann-Pick type C disease

G. Guazzi, A. Federico, C. Battisti, 2004, Neuroradiology.

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

E. Malfatti, A. Federico, E. Cardaioli, 2009 .

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients

L. Pantoni, D. Inzitari, H. Markus, 2018, PloS one.

Rare mononeuropathies of the upper limb in bodybuilders

A. Federico, R. Cioni, M. Mondelli, 1998, Muscle & nerve.

Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients.

B. Giusti, A. Gori, R. Abbate, 2017, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES)

L. Pantoni, D. Inzitari, A. Poggesi, 2014, European journal of neurology.

Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?

D. Inzitari, A. Federico, R. De Maria, 2013, PLoS ONE.

Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL

T. Meitinger, M. Dichgans, L. Pantoni, 2014, Stroke.

The neurologist and stroke

D. Inzitari, A. Federico, G. Orlandi, 2003, Neurological Sciences.

Vitamin E serum levels in Rett syndrome

A. Federico, M. Dotti, C. Battisti, 1998, Journal of the Neurological Sciences.

Impaired vasoreactivity in mildly disabled CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Current Perspectives in Post-stroke Cognitive Impairment

M. Brainin, A. Guekht, A. Federico, 2013 .

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

M. Mancuso, A. Federico, G. Siciliano, 2017, Neurological Sciences.

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

A. Federico, A. Malandrini, E. Cardaioli, 2015, Neurological Sciences.

Replay to: Phenotypic spectrum of POLG1 mutations

A. Federico, E. Cardaioli, P. Da Pozzo, 2018, Neurological Sciences.

ARCHIVES OF NEUROLOGY

K. Tyler, M. Ruberg, M. Welter, 2015 .

Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings

A. Federico, M. Dotti, A. Rufa, 2001, Journal of Inherited Metabolic Disease.

Electrocardiographic abnormalities in Leber's hereditary optic atrophy

G. Guazzi, A. Federico, M. Dotti, 1987, Journal of Inherited Metabolic Disease.

Cerebral thromboangiitis obliterans: clinical and MRI findings in a case.

A. Federico, M. Dotti, N. de Stefano, 1995, European Neurology.

Biomarker Testing: Piercing the Fog of Alzheimer’s and Related Dementia

G. Logroscino, F. Nobili, A. Federico, 2020, Biomedicine Hub.

Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome

A. Federico, S. Mondillo, E. Agricola, 1999, Journal of Neurology.

APOE-ε4 is not associated with cognitive impairment in relapsing—remitting multiple sclerosis

S. Sorbi, B. Nacmias, A. Federico, 2009, Multiple sclerosis.

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression

M. Battaglini, A. Federico, N. Stefano, 2017, Journal of Neurology.

Familial lead poisoning from contaminated wine

A. Federico, C. Paradiso, G. Battista, 1981, The Italian Journal of Neurological Sciences.

Voxel-wise assessment of progression of regional brain atrophy in relapsing-remitting multiple sclerosis

Marco Battaglini, Antonio Federico, Nicola De Stefano, 2009, Journal of the Neurological Sciences.

Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis.

J. Kelleher, A. Federico, K. von Bergmann, 2005, Metabolism: clinical and experimental.

Neocortical volume decrease in relapsing–remitting multiple sclerosis with mild cognitive impairment

S. Sorbi, A. Federico, N. Stefano, 2006, Journal of the Neurological Sciences.

Influence of Apolipoprotein E ϵ4 Genotype on Brain Tissue Integrity in Relapsing-Remitting Multiple Sclerosis

S. Sorbi, B. Nacmias, A. Federico, 2004 .

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis

E. Bertini, A. Federico, A. Malandrini, 2022, Neurological Sciences.

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

B. Barbiroli, A. Torroni, P. Barboni, 2005, Annals of neurology.

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

A. Federico, A. Malandrini, C. Battisti, 2014, Journal of the Neurological Sciences.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

A. Federico, M. Dotti, A. Verrips, 2019, Neurological Sciences.

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid

A. Rossi, F. Ginanneschi, A. Federico, 2012, Journal of Neurology.

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions

M. Mancuso, A. Federico, G. Siciliano, 2020, Neurological Sciences.

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed

A. Federico, A. Malandrini, M. Dotti, 2015, Journal of the Neurological Sciences.

Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

A. Federico, M. Dotti, E. Cardaioli, 2015, Journal of the Neurological Sciences.

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

V. Micheli, A. Federico, M. Dotti, 2012, Journal of Neurology.

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

B. Barbiroli, A. Torroni, P. Barboni, 2004 .

Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.

A. Federico, N. Stefano, M. Dotti, 2001, Brain : a journal of neurology.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

A. Federico, D. Cole, B. Robinson, 1995, American journal of human genetics.

A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

E. Malfatti, A. Federico, A. Malandrini, 2007, Neuromuscular Disorders.

Table 1. [Biochemical Abnormalities in Cerebrotendinous Xanthomatosis (CTX)].

A. Federico, M. Dotti, G. Gallus, 2016 .

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

A. Federico, M. Dotti, R. Nuti, 1993, Journal of the Neurological Sciences.

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

S. Rossi, M. Ballerini, A. Federico, 2011, Journal of Neurology.

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

G. Guazzi, A. Federico, M. Dotti, 1994, AJNR. American journal of neuroradiology.

Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging.

M. Filippi, G. Comi, M. Inglese, 2003, AJNR. American journal of neuroradiology.

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

V. Di Piero, A. Federico, L. Bozzao, 1990, Journal of neurology, neurosurgery, and psychiatry.

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

N. Funel, A. Federico, A. Malandrini, 2018, Biochemical and biophysical research communications.

Proton magnetic resonance spectroscopy in brain white matter disorders

D. Arnold, A. Federico, N. Stefano, 1997, The Italian Journal of Neurological Sciences.

Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations

A. Federico, M. Dotti, P. Galluzzi, 2018, European journal of neurology.

Thomas E. Nichols, Timothy Edward John Behrens, P. Matthews, 2005 .

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

A. Federico, S. Palmeri, R. Buccoliero, 2007, Journal of Inherited Metabolic Disease.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28

A. Federico, A. Tessa, A. Malandrini, 2016, Journal of the Neurological Sciences.

MR evidence of structural and metabolic changes in brains of patients with Werner’s syndrome

A. Federico, N. Stefano, M. Dotti, 2003, Journal of Neurology.

CSF Biomarkers Profile in CADASIL—A Model of Pure Vascular Dementia: Usefulness in Differential Diagnosis in the Dementia Disorder

L. Parnetti, A. Federico, G. Cevenini, 2010, International journal of Alzheimer's disease.

Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis

A. Federico, S. Tripodi, C. Battisti, 2004, Brain and Development.

Lysosomal Enzyme Activity in Rat Brain During Aging

A. Federico, S. Palmeri, I. d'Amore, 1988 .

Scientific publishing in the COVID-19 era: successes and pitfalls

A. Federico, 2020, Neurological Sciences.

No lockdown for neurological diseases during COVID19 pandemic infection

Antonio Federico, V. Caso, A. Federico, 2020, Neurological Sciences.

Open Facilities for Training in European Neurology (OFTEN): a European Board of Neurology initiative

A. Federico, W. Grisold, N. Gilhus, 2002, European journal of neurology.

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

M. Dichgans, L. Pantoni, H. Chabriat, 2018, Genetics in Medicine.

Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families.

G. Guazzi, A. Federico, M. Dotti, 1989, Acta neurologica.

Cerebellum and neuropsychiatric disorders: insights from ARSACS

A. Federico, A. Tessa, F. Santorelli, 2013, Neurological Sciences.

Magnetic resonance spectroscopy as a measure of brain damage in multiple sclerosis

Antonio Federico, Nicola De Stefano, A. Federico, 2005, Journal of the Neurological Sciences.

Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis

Stefano Ramat, Pamela Federighi, Francesca Rosini, 2017, Front. Neurol..

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease

A. Federico, A. Malandrini, M. Dotti, 1999, Neurology.

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

A. Federico, M. Dotti, P. Galluzzi, 2009, Journal of Neurology.

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis.

A. Giorgio, A. Federico, M. Dotti, 2012, Parkinsonism & related disorders.

Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment.

A. Federico, S. Battistini, N. de Stefano, 1991, Functional neurology.

Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich’s ataxia

A. Federico, 2004, Neurological Sciences.

Spinocerebellar Ataxia Type 2 (Sca2) Associated with Retinal Pigmentary Degeneration

A. Federico, M. Dotti, A. Rufa, 2002, European Neurology.

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene

A. Federico, F. Rosini, S. Bianchi, 2015, Neurological Sciences.

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

M. T. Pellecchia, C. van Broeckhoven, P. Barone, 2009, Movement disorders : official journal of the Movement Disorder Society.

Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem

A. Federico, L. Monti, A. Rufa, 2010, Neurological Sciences.

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and 1H-NMR spectroscopic studies

A. Federico, M. Dotti, M. Tassini, 2007, Neurological Sciences.

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

M. Dichgans, L. Pantoni, H. Chabriat, 2018, Genetics in Medicine.

Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network

L. Optican, A. Federico, F. Rosini, 2017, Clinical Neurophysiology.

Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations

A. Federico, C. Battisti, V. Bonifati, 2013, Journal of Neurology.

Paroxysmal supraventricular tachycardia in anti-musk Myasthenia gravis: A case report

A. Federico, G. Ruocco, C. Battisti, 2016, Journal of the Neurological Sciences.

Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients

M. Mascalchi, S. Diciotti, M. Cosottini, 2018, Dementia and Geriatric Cognitive Disorders Extra.

Rita Levi-Montalcini, one of the most prominent Italian personalities of the twentieth century

A. Federico, 2013, Neurological Sciences.

TheA toG transition atnt3243ofthe mitochondrial tRNALeu(uuR) maycauseanMERRF syndrome

G. Guazzi, A. Federico, G. Grieco, 1996 .

HTRA1 expression profile and activity on TGF‐β signaling in HTRA1 mutation carriers

A. Federico, M. Dotti, C. Battisti, 2020, Journal of cellular physiology.

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

M. Zeviani, E. Malfatti, A. Federico, 2009, European Journal of Human Genetics.

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

A. Federico, G. Siciliano, A. Malandrini, 2021, Muscle & nerve.

Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study.

A. Rossi, A. Federico, M. Dotti, 1985, European neurology.

Chronic cerebro-spinal venous insufficiency (CCSVI) and multiple sclerosis

G. Comi, A. Ghezzi, A. Federico, 2011, Neurological Sciences.

Relevance of brain lesion location for cognition in vascular mild cognitive impairment

M. Mascalchi, S. Diciotti, M. Cosottini, 2019, NeuroImage: Clinical.

Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia

A. Federico, M. Dotti, P. Sabatelli, 1988, Journal of Inherited Metabolic Disease.

Lithium neurotoxicity mimicking rapidly progressive dementia

A. Federico, M. Dotti, R. Rocchi, 2013, Journal of Neurology.

Spike removal through multiscale wavelet and entropy analysis of ocular motor noise: A case study in patients with cerebellar disease

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2011, Journal of Neuroscience Methods.

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions

R. Leigh, S. Martinez-Conde, A. Serra, 2013, PloS one.

Longitudinal changes in MoCA performances in patients with mild cognitive impairment and small vessel disease. Results from the VMCI-Tuscany Study

L. Pantoni, D. Inzitari, A. Poggesi, 2021, Cerebral circulation - cognition and behavior.

Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study

R. Marconi, B. Giusti, A. Gori, 2016, Alzheimer's & Dementia.

APOPTOSIS, OXIDATIVE STRESS AND NEUROLOGICAL DISEASE

A. Federico, C. Battisti, P. Formichi, 2009 .

Cervical myelopathy secondary to ossification of the posterior longitudinal ligament (a case report)

A. Federico, C. Paradiso, C. Venturi, 1984, The Italian Journal of Neurological Sciences.

THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA: A NEW MUTATION IN CYP27A1 GENE

A. Federico, A. Schenone, M. Dotti, 2008, Neurology.

A novel mutation in the Notch3 gene in an Italian family with CADASIL

A. Federico, N. Stefano, M. Muglia, 2001 .

Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease)

A. Federico, C. Battisti, P. Formichi, 1996, Journal of the Neurological Sciences.

Scientific publications of European neurologists: a survey commissioned by the European Academy of Neurology

G. Deuschl, A. Federico, G. Cruccu, 2018, European journal of neurology.

Peripheral neuropathy in late-onset Krabbe disease: report of three cases

A. Federico, A. Malandrini, M. Dotti, 2012, Neurological Sciences.

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia

G. Comi, G. Meola, A. Federico, 2021, Neurological Sciences.

Serum vitamin E in inherited ataxias.

A. Federico, G. De Michele, A. Filla, 1990, Acta neurologica.

The Siena experience on rare neurological diseases: diagnosis, therapy and research model for investigations of central and peripheral nervous systems and muscle.

A. Federico, M. Dotti, 2001, Functional neurology.

Proton magnetic resonance spectroscopy of the brain in dementia

A. Federico, M. Mortilla, N. de Stefano, 1999, The Italian Journal of Neurological Sciences.

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

A. Federico, M. Dotti, A. Caporossi, 2006, Journal of Neurology.

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

A. Federico, S. Mondillo, E. Agricola, 1998, Journal of Neurology.

Leber Hereditary Optic Neuropathy in 2 of 4 Siblings with 11778 mtDNA Mutation: Clinical Variability or Effect of Toxic Environmental Exposure?

A. Federico, M. Dotti, E. Cardaioli, 2004, European Neurology.

ATAXIA‐TELANGIECTASIA: SOMATOSENSORY,‘BRAINSTEM AUDITORY. AND MOTOR EVOKED POTENTIALS IN SIX PATIENTS

C. Scarpini, G. Guazzi, A. Federico, 1996, Developmental medicine and child neurology.

Progressive neurodegenerative syndrome associated with Langerhans cell histiocytosis: a rare condition that we have to consider in patients with sporadic spastic ataxia and diabetes insipidus

A. Federico, Lara Toro Mammarella, 2012, Neurological Sciences.

Macular cherry-red spot and myoclonus syndrome Juvenile form of sialidosis

G. Guazzi, A. Federico, G. Strecker, 1980, Journal of the Neurological Sciences.

Glycopeptidosis: A new inherited disorder of glycoconjugate metabolism affecting the central nervous system

G. Guazzi, A. Federico, G. Strecker, 1981, Journal of Inherited Metabolic Disease.

Mutations intheX-Linked ElaSubunit ofPyruvate Dehydrogenase: ExonSkipping, Insertion ofDuplicate Sequence, andMissense Mutations Leading totheDeficiency ofthePyruvate Dehydrogenase Complex

A. Federico, R. Petrova-Benedict, A. Fois, 1995 .

Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study.

A. Federico, A. Malandrini, C. Battisti, 1995, Life sciences.

Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment

A. Federico, M. Dotti, R. Nuti, 2013, Calcified Tissue International.

Ataxia with vitamin E deficiency: update of molecular diagnosis

A. Federico, A. Federico, S. Bianchi, 2010, Neurological Sciences.

A case of pneumocephalus as complication of ozone therapy: diagnosis and treatment

A. Federico, C. Battisti, L. Monti, 2019, Neurological Sciences.

Altered cerebellar functional connectivity mediates potential adaptive plasticity in patients with multiple sclerosis

P. Matthews, S. Smith, Stephen M. Smith, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Evidence of early cortical atrophy in MS

P. M. Matthews, F. Agosta, P. Matthews, 2003, Neurology.

Neuropsychological and MRI measures predict short-term evolution in benign multiple sclerosis

A Giorgio, M. Battaglini, A. Giorgio, 2009, Neurology.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

B. Giusti, A. Gori, R. Abbate, 2006, Clinical and experimental hypertension.

Cognitive assessment and quantitative magnetic resonance metrics can help to identify benign multiple sclerosis

G. Siracusa, M. Battaglini, A. Giorgio, 2008, Neurology.

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R. Carrozzo, H. Schägger, A. Federico, 2001, Neurology.

Exploring the role of music therapy in multiple sclerosis: brief updates from research to clinical practice

A. Federico, C. Vinciguerra, N. de Stefano, 2019, Neurological Sciences.

M. Dichgans, L. Pantoni, H. Chabriat, 2018, Genetics in Medicine.

DIAGNOSTIC VALUE OF ULTRASTRUCTURAL SKIN BIOPSY STUDIES IN CADASIL

A. Federico, A. Malandrini, A. Federico, 2007, Neurology.

CSF levels of β‐amyloid 1‐42, tau and phosphorylated tau protein in CADASIL

L. Parnetti, A. Federico, A. Federico, 2008, European journal of neurology.

Sixth nerve and superior division of third nerve palsy due to intracranial extension of multiple myeloma. A diagnostic challenge and differential diagnosis

A. Federico, A. Rufa, A. Cerase, 2018, Neurological Sciences.

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis

A. Federico, A. Quattrone, A. Malandrini, 2008, Brain and Development.

Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy

A. Rossi, A. Federico, A. Federico, 1986, Acta neurologica Scandinavica.

Correlates of MS disability assessed in vivo using aggregates of MR quantities

C. Mainero, G. Comi, G. Comi, 2001, Neurology.

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

F. Pierelli, A. Federico, A. Tessa, 2004, Neurology.

Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder

E. Santarnecchi, A. Federico, N. Stefano, 2013, The Cerebellum.

Enhanced 2-deoxy-d-ribose-induced-apoptosis, a phenotype of lymphocytes from old donors, is not observed in the Werner syndrome

A. Federico, A. Federico, P. Tosi, 2000, Experimental Gerontology.

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

L. Pantoni, D. Inzitari, A. Federico, 2014, Stroke.

M. Dichgans, L. Pantoni, H. Chabriat, 2018, Genetics in Medicine.

Impaired vasoreactivity in mildly disabled CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Functional Reorganization of Motor Cortex Increases With Greater Axonal Injury From CADASIL

P. Matthews, N. De Stefano, A. Federico, 2002, Stroke.

Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

B. Giusti, A. Gori, R. Abbate, 2010, Stroke.

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

M. Battaglini, S. Marino, A. Giorgio, 2006, Journal of Neurology.

Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis.

A. Giorgio, A. Federico, M. Stromillo, 2019, Multiple sclerosis and related disorders.

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

A. Federico, A. Malandrini, M. Dotti, 2004, Archives of neurology.

Spatial ranking strategy and enhanced peripheral vision discrimination optimize performance and efficiency of visual sequential search

A. Federico, F. Rosini, A. Rufa, 2014, The European journal of neuroscience.

1H-MR Spectroscopy in Traumatic Brain Injury

S. Marino, P. Bramanti, A. Federico, 2011, Neurocritical care.

Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid.

A. Rossi, C. Scarpini, A. Federico, 1992, Archives of neurology.

Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.

A. Federico, V. Guida, A. De Luca, 2015, Journal of Alzheimer's disease : JAD.

Exercise-induced bilateral anterior tibial compartment syndrome without pain

A. Rossi, A. Federico, A. Federico, 1986, The Italian Journal of Neurological Sciences.

Impairment of human brain development: glycoconjugate and lipid changes in congenital athyroidism.

A. Federico, P. Annunziata, I. d'Amore, 1983, Early human development.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

Clinical and Neurophysiological Changes in Carriers from a Family with Type O Chronic GM2-Gangliosidosis with Als Phenotype

A. Rossi, G. Guazzi, A. Federico, 1988 .

Mitochondrial alterations in muscle biopsies of patients on statin therapy.

A. Federico, A. Malandrini, A. Federico, 2004, Journal of submicroscopic cytology and pathology.

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.

A. Federico, E. Cardaioli, E. Radi, 2004, Biochemical and biophysical research communications.

Automatic eye fixations identification based on analysis of variance and covariance

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2011, Pattern Recognition Letters.

Influences of data filtering on human-computer interaction by gaze-contingent display and eye-tracking applications

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2010, Comput. Hum. Behav..

Eye fixations identification based on statistical analysis - Case study

Giacomo Veneri, Pamela Federighi, Francesca Rosini, 2010, 2010 2nd International Workshop on Cognitive Information Processing.

Neurological Involvement in Werner’s Syndrome: Clinical and Biopsy Study of a Familial Case

A. Federico, A. Malandrini, M. Dotti, 2000, European Neurology.