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List of works by Antonio Federico

A Rett syndrome MECP2 mutation that causes mental retardation in men.

scientific article published in January 2002

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

scientific article

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

scientific article published on 01 May 1998

A case of ovarioleukodystrophy without eIF2B mutations

scientific article published on 03 December 2007

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

scientific article

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

scientific article published on 03 February 2006

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

scientific article published on 12 June 2011

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

scientific article published on 02 June 2008

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

scientific article published in February 2005

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

scientific article published on 5 July 2007

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

scientific article

A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features

scientific article published on 13 August 2010

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

scientific article published on 19 November 2007

A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case

scientific article published on 01 July 1997

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 2010

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

scientific article published on 18 January 2014

A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course

scientific article published on 01 August 2004

APOE-epsilon4 is not associated with cognitive impairment in relapsing-remitting multiple sclerosis

scientific article published on 13 November 2009

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

scientific article published on 01 November 2000

Accurate, robust, and automated longitudinal and cross-sectional brain change analysis

scientific article

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease

scientific article published on 01 March 1999

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

scientific article published in April 2004

Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

scientific article published on 06 June 2008

Adrenoleukodystrophy: a genetic, clinical, biochemical and computed tomographic study of four patients in three different families

scientific article published on 01 June 1987

Adult dementia in three siblings: ceroid-lipofuscinosis

scientific article published on 01 October 1986

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

scientific article published in November 2003

Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms.

scientific article

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

scientific article published on 31 October 2014

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

scientific article published on August 2012

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

scientific article

Amiodarone affects membrane water permeability properties of human erythrocytes and rat mitochondria.

scientific article published on May 1996

Amiodarone-induced parkinsonism: a case report and pathogenetic discussion.

scientific article published on March 1995

An Alternative Method of Left Ventricular Decompression during Aortocoronary Bypass ⬇️

scientific article published on May 1, 1977

Analysis of myosin heavy chain functionality in the heart.

scientific article published on 6 March 2003

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

scientific article published on 6 March 2015

Anderson-Fabry's disease: neuropathological and neurochemical investigation.

scientific article published on January 1982

Aortic stenosis and coronary pathology. Their implications for the transvalvular gradient

scientific article

Aperiodic alternating nystagmus: report of two cases and treatment by baclofen

scientific article published on 01 August 1986

Apoptosis and oxidative stress in neurodegenerative diseases.

scientific article

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

scientific article published in May 2009

Apoptotic response and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress.

scientific article

Assessing pain in patients with dementia

scientific article published on 01 December 2009

Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study

scientific article published on 01 October 1998

Association of Neocortical Volume Changes With Cognitive Deterioration in Relapsing-Remitting Multiple Sclerosis

scientific article published on 01 August 2007

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

scientific article published on 01 July 2004

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis

scientific article published on 19 March 2015

Ataxia with vitamin E deficiency: update of molecular diagnosis.

scientific article published on 13 May 2010

Ataxia-telangiectasia: somatosensory, brainstem auditory and motor evoked potentials in six patients

scientific article published on 01 January 1996

Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation.

scientific article

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

scientific article

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

scientific article published on 01 January 1980

Blood oxygenation level dependent contrast resting state networks are relevant to functional activity in the neocortical sensorimotor system

scientific article published on 12 November 2005

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

scientific article published on 24 December 2009

Brain damage as detected by magnetization transfer imaging is less pronounced in benign than in early relapsing multiple sclerosis

scientific article published on 30 June 2006

Brain mitochondrial impairment in ethylmalonic encephalopathy

scientific article published on 01 June 2004

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

article

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

scientific article published on 18 August 2010

Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

scientific article published on 11 January 2007

Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

scientific article

Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient

scientific article published on 01 January 2006

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.

scientific article published on January 1999

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

scientific article published on 7 December 2013

Cerebral choline acetyltransferase and acetylcholinesterase activities in a Sanfilippo syndrome, in a myoclonic epilepsy and in various zones of the human newborn brain

scientific article published on January 1, 1978

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

scientific article

Cerebral thromboangiitis obliterans: clinical and MRI findings in a case

scientific article published on 01 January 1995

Cerebro-ocular dysplasia and muscular dystrophy: report of two cases

scientific article published on 01 May 1988

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

scientific article published on November 1, 2012

Cerebrospinal fluid tau, A beta, and phosphorylated tau protein for the diagnosis of Alzheimer's disease.

scientific article

Cerebrotendinous xanthomatosis

scientific article published on 01 November 2001

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

scientific article published on October 1994

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

scientific article

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

scientific article published on 01 September 2000

Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.

scientific article published in September 2003

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

scientific article published on 01 November 1998

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

scientific article published in December 2001

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

scientific article published on 01 March 1993

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

scientific article published on 02 March 2014

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

scientific article published on January 1, 1978

Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin

scientific article published on 01 January 1987

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

scientific article published on January 1991

Chorein detection for the diagnosis of chorea-acanthocytosis

scientific article published on August 2004

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

scientific article published in January 1993

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

scientific article published on December 15, 2010

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

scientific article published on 7 July 2008

Chronic progressive leptomeningitis associated with measles virus.

scientific article published in August 1997

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

scientific article published on April 25, 2012

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

scientific article published on 8 November 2007

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

scientific article published on June 2006

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

scientific article published on 01 January 2004

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

scientific article published on June 1, 1998

Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder

article

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

scientific article published on 21 November 2010

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis.

scientific article published in November 2010

Cochleovestibular investigation in progressive myoclonus epilepsy

scientific article published on 01 February 1983

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

scientific article published in August 2008

Commentary to mitDNA research for the pathogenesis of mitochondrial disorders

scientific article published on 01 November 2005

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy

scientific article published on 01 January 1990

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

scientific article published on 01 December 1989

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

scientific article published in May 2001

Cortical lesions in radiologically isolated syndrome.

scientific article

Cyclic treatment of chronic hepatic encephalopathy with rifaximin. Results of a double-blind clinical study.

scientific article published in March 2003

Cytokine production from peripheral mononuclear cells in 2 patients affected by adrenomyeloneuropathy

scientific article published on 01 January 2001

DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.

scientific article

Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment

scientific article published on 01 October 1992

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

scientific article

Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).

scientific article

Developmental changes of the electrophoretic profile of water-soluble and water-insoluble proteins of human cerebral cortex. Preliminary data

scientific article published on June 1, 1979

Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies.

scientific article published on January 1991

Diagnostic value of ultrastructural skin biopsy studies in CADASIL.

scientific article

Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias.

scientific article published in March 2011

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

scientific article published in October 2002

Dilated cardiomyopathy and inclusion body myositis

scientific article published on 16 September 2011

Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy

scientific article published on 01 July 1996

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

scientific article published on 19 March 2014

Dysautonomic achalasia in two siblings with Sandhoff disease

Effect of aging on the heterosaccharide moiety of glycoproteins: study of concanavalin A-bound glycoproteins and glycosidases

scientific article published on 01 January 1984

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

scientific article published on 29 April 2013

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

scientific article published on 01 August 2000

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

scientific article published on 31 March 2011

Evaluating the influence of motor control on selective attention through a stochastic model: the paradigm of motor control dysfunction in cerebellar patient.

scientific article published on 9 February 2014

Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies

scientific article published on 01 January 2003

Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease

scientific article published on 01 March 2000

Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid

scientific article published on May 1, 1992

Exercise-induced bilateral anterior tibial compartment syndrome without pain

scientific article published on 01 June 1986

Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

scientific article published on 29 January 2015

Fabry's disease and cerebrovascular disorders

scientific article published on 01 June 2002

Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies

scientific article published on 01 November 1984

Familial acute dystonic-dyskinetic syndrome with dominant inheritance after use of antidopaminergic antiemetic drugs

scientific article published on 01 July 1995

Familial lead poisoning from contaminated wine

scientific article published on 01 August 1981

Familial multiple exostoses syndrome: a phacomatosis of bone tissue

scientific article published on 01 October 1986

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

scientific article published on 12 April 2013

First report of an Iraqi Kurdish CADASIL patient

scientific article published on 21 September 2010

Four novel CYP27A1 mutations in seven Italian patients with CTX

scientific article published on 01 October 2010

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

scientific article published on 01 November 1997

Fulminant intravascular lymphomatosis mimicking acute haemorrhagic leukoencephalopathy.

scientific article published on 21 June 2012

Functional reorganization of motor cortex increases with greater axonal injury from CADASIL.

scientific article published in February 2002

Gene symbol: NOTCH3. Disease: CADASIL

scientific article published on 01 December 2005

Gene symbol: NOTCH3. Disease: CADASIL

scientific article published in December 2005

Gene symbol: Notch3. Disease: CADASIL

scientific article published on 01 December 2005

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

scientific article

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

scientific article published in June 1998

Glutathione-peroxidase and plasma fatty acid changes in ceroid-lipofuscinosis

scientific article published on 01 April 1983

Glycoconjugate changes in a brain biopsy from a patient with Creutzfeldt-Jakob disease

scientific article published on August 1, 1978

Glycosaminoglycan and glycoprotein changes in subacute sclerosing leucoencephalitis

scientific article published on 01 June 1981

Glycosaminoglycans and Glycoproteins in Metachromatic Leucodystrophy ⬇️

scientific article published on January 1, 1977

Glycosidases and cerebellar ontogenesis in the rat

scientific article published on 01 April 1980

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

scientific article published on 04 February 2020

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4

scientific article published on 20 March 2014

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

scientific article

Hereditary cerebral small vessel diseases: A review ⬇️

scientific article published on August 4, 2012

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

scientific article published on 16 February 2014

Hereditary microphthalmos associated with ichthyosis. A genetic, clinical, ultrasonographic and histological study

scientific article published on 01 January 1982

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

scientific article published on 08 February 2014

Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.

scientific article

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

scientific article published on 01 November 2000

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

scientific article published on 15 August 2011

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

article

High-mobility group A1 protein inhibits p53-mediated intrinsic apoptosis by interacting with Bcl-2 at mitochondria.

scientific article published on 30 August 2012

Higher rate of toxicity with no increased efficacy when hydroxyurea is added to a regimen of stavudine plus didanosine and nevirapine in primary HIV infection.

scientific article published in April 2002

Histochemical examination of the cornea in a patient with Scheie's disease (presentation of a new family)

scientific article published on January 1974

Homozygosity and severity of phenotypic presentation in a CADASIL family.

scientific article

Human fibroblasts undergo oxidative stress-induced apoptosis without internucleosomal DNA fragmentation

scientific article published on 01 August 2006

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.

scientific article published in April 2012

Hunter's disease: genetic, clinical and biochemical study of a new family

scientific article published on January 1, 1979

Huntington's disease gene expansion associates with early onset nonprogressive chorea

scientific article

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

scientific article published on 02 November 2011

Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts.

scientific article published in July 1992

Impaired vasoreactivity in mildly disabled CADASIL patients

scientific article published on 09 November 2011

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

scientific article published on October 1, 1983

Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis

scientific article

Inclusion body myopathy-like changes in a family with cerebellar atrophy, mental retardation and abnormal pupils.

scientific article published on 11 October 2006

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

scientific article published on 01 January 1994

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

scientific article published on 01 December 1996

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

scientific article published on 12 November 2007

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

scientific article published in April 2004

Is the oxidant/antioxidant status altered in CADASIL patients?

scientific article

Isotopic cardiac pacemaker: clinical use

scientific article published on 01 November 1974

Italian neurology: past, present and future.

scientific article published on April 2011

Lafora's disease. Clinical, histological ultrastructural and biochemical study

scientific article published on 01 December 1980

Late diagnosis in severe and mild intellectual disability in adulthood.

scientific article published in October 2004

Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic environmental exposure?

scientific article published on 10 February 2005

Leber's optic atrophy: VEP and BAEP changes in 16 asymptomatic subjects.

scientific article published in October 1991

Leukoencephalopathy as a rare complication of hepatitis C infection.

scientific article published in November 2006

Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.

scientific article published on 7 May 2009

Lithium neurotoxicity mimicking rapidly progressive dementia.

scientific article

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

scientific article

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

scientific article published on 2 December 2012

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

scientific article published on September 2004

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

scientific article published in September 2000

MR correlates of cerebral atrophy in patients with multiple sclerosis.

scientific article published in August 2002

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

scientific article

Magnetic resonance imaging findings in Leber's hereditary optic neuropathy

scientific article published on 01 January 1992

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

scientific article published on 20 April 2005

Management and outcomes of hepatic cirrhosis: Findings from the RING study

scientific article published on 11 September 2006

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

article

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

scientific article

Mitochondria, oxidative stress and neurodegeneration.

scientific article published on 04 June 2012

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

scientific article published on 01 March 1999

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

scientific article published on 27 February 2004

Mitochondrial alterations in muscle biopsies of patients on statin therapy

scientific article published on 01 January 2004

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

scientific article published in March 1993

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

scientific article published on 01 April 1995

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

scientific article published on 3 January 2015

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

scientific article published on 01 January 1988

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

scientific article published on July 24, 1998

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype

scientific article published on 01 September 2005

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

scientific article published on 04 September 2007

Multiple sclerosis. Etiopathogenetic review

scientific article published in October 1975

Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.

scientific article published in October 2008

Muscle mitochondrial changes in cerebrotendinous xanthomatosis

scientific article published on 01 November 1991

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

scientific article

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

scientific article published on 01 November 2012

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease ⬇️

scientific article published on February 16, 2012

Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?

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

scientific article published on December 2006

Nemaline myopathy: description of an adult onset case

scientific article published on 01 January 2002

Neocortical volume decrease in relapsing-remitting MS patients with mild cognitive impairment

scientific article published on 01 July 2004

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

scientific article

Neurochemical changes in Creutzfeldt-Jakob disease

scientific article published on 01 January 1980

Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti.

scientific article published in August 1990

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

scientific article published on 01 July 1999

Neurological involvement in Werner's syndrome: clinical and biopsy study of a familial case

scientific article published on 01 January 2000

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

scientific article published on 01 August 1989

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

scientific article published on 29 July 2009

New perspectives in clinical neurology: the promise of non-conventional magnetic resonance techniques

scientific article published on 01 December 1997

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

scientific article published in November 2002

Nonpharmacological, ubiquitous, rapid, fused graphic elements in the electroencephalographic pattern of 2 sisters with type A sulfatidosis and ponto-cerebellar systemic atrophy

scientific article published on 01 March 1976

Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels

scientific article

Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis.

scientific article published in October 2004

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL

scientific article published on 01 December 2007

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation

scientific article published on 01 December 2007

Novel transcription factor variants through RNA-sequencing: the importance of being "alternative"

scientific article

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

scientific article

Ocular-motor profile and effects of memantine in a familial form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions

scientific article published on 22 July 2013

Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family

scientific article published on April 1, 1992

On the personal facets of quality of life in chronic neurological disorders.

scientific article

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

scientific article published on 01 July 2002

Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families

scientific article published on 01 March 1993

Oral self-mutilation in a patient with rhombencephalosynapsys.

scientific article

Oxidative stress-induced apoptosis in two patients with Alagille syndrome

scientific article published on 28 June 2011

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

scientific article published on 3 December 2007

Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?

scientific article published on 01 August 1997

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

scientific article published on 20 July 2011

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

scientific article published in March 1996

Peripheral nerve involvement in ataxia telangiectasia: histological and ultrastructural studies of peroneal nerve biopsy in two cases

scientific article published on 01 May 1990

Peripheral neuropathy in CADASIL

scientific article published on 15 April 2005

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

scientific article published on 25 January 2012

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

scientific article published on 01 July 2006

Physiology and pathology of notch signalling system.

scientific article

Plasma levels of vitamin E in Parkinson's disease

scientific article published on 01 January 1995

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

scientific article published in February 1995

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid ⬇️

scientific article published on August 10, 2012

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

scientific article

Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle.

scientific article

Primary familial brain calcification: Genetic analysis and clinical spectrum

scientific article published on 4 October 2014

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

scientific article

Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases

scientific article published on August 1, 1992

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

scientific article published on 01 June 2012

Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy

scientific article published on 01 September 2007

Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders.

scientific article published in May 2000

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

scientific article (publication date: 2001)

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

scientific article

Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis.

scientific article

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

scientific article published in March 2003

Rare mononeuropathies of the upper limb in bodybuilders

scientific article published on 01 June 1998

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

scientific article published on February 1, 2013

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

scientific article published on 18 June 2007

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Refsum's disease: clinical or biological diagnosis? Discussion of 2 clinical cases

scientific article published on November 1, 1975

Relevance of brain lesion location to cognition in relapsing multiple sclerosis

scientific article

Requests for electromyography from general practitioners and specialists: critical evaluation

scientific article published on 01 August 1998

Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.

scientific article published on 5 November 2010

Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells

scientific article

Retinochoroidal atrophy in two adult patients with Angelman syndrome

scientific article published on 01 October 2003

Right-to-Left Shunt in CADASIL Patients

Risk and Determinants of Dementia in Patients with Mild Cognitive Impairment and Brain Subcortical Vascular Changes: A Study of Clinical, Neuroimaging, and Biological Markers-The VMCI-Tuscany Study: Rationale, Design, and Methodology.

scientific article published on 8 April 2012

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

scientific article

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

scientific article (publication date: March 2005)

Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case

scientific article published on 01 January 1985

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

scientific article published on 01 May 1981

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

scientific article published on 01 January 1981

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

scientific article

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

scientific article

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

scientific article published on 01 July 1997

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

scientific article published in November 1992

Sensory-motor hereditary neuropathy with early onset. A case report

scientific article published on 01 April 1993

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

scientific article published in November 2004

Serum vitamin E in inherited ataxias

scientific article published on 01 April 1990

Simplified phase-recovery method in temporal speckle pattern interferometry.

scientific article published in October 2014

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

scientific article published in July 2003

Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy

scientific article published on 01 April 1996

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

scientific article published on June 6, 2011

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

scientific article published on 13 May 2006

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

scientific article published on 13 December 2008

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

scientific article published on 22 January 2011

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️

scientific article published on August 24, 2012

Stability of lysosomal enzyme activity in post-mortem rat brain

scientific article published on February 1, 1979

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

scientific article published on 29 May 2011

Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835

scientific article published on 01 April 1999

Study on the cerebral glycoconjugates in metachromic leukodystrophy (preliminary note)

scientific article published on May 1, 1976

Sudden cardiac death in a case of spinocerebellar ataxia (Friedreich-like phenotype)

scientific article published on 01 January 2006

Superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality. A case report.

scientific article published on January 1982

Sweat gland vacuoles in Unverricht-Lundborg disease

scientific article published on 01 July 1997

Tarlov cysts: clinical evaluation of an Italian cohort of patients

scientific article published on 06 February 2014

Tarlov cysts: clinical evaluation of an italian cohort of patients ⬇️

scientific article published on February 12, 2013

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

scientific article published on 01 September 2006

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

scientific article published on July 1996

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

scientific article published on 20 September 2012

The Clinical Aspects of Adult Hexosaminidase Deficiencies ⬇️

scientific article published on January 1, 1991

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

scientific article published in November 2004

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

scientific article published on 2 February 2007

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

scientific article published on 01 January 2001

The effect of a new symbiotic formulation on plasma levels and peripheral blood mononuclear cell expression of some pro-inflammatory cytokines in patients with ulcerative colitis: a pilot study.

scientific article published on July 2009

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.

scientific article published in August 1987

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

scientific article published on 13 November 2009

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

scientific article published on 29 May 2012

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

scientific article published on 20 December 2019

The spectrum of mutations in 28 Italian CADASIL families

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

scientific article

The teaching of neurology in the degree course in dentistry

scientific article published on 01 November 1993

Therapeutic hypothermia: a case study.

scientific article

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

article

Transient "sicca syndrome" during phenobarbital treatment

scientific article published on 15 October 2010

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

scientific article published on March 2012

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

scientific article

Treatment of cerebrotendinous xanthomatosis

scientific article published on 01 November 1994

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

scientific article

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

scientific article published on 21 March 2009

Two novel HTRA1 mutations in a European CARASIL patient

scientific article published on 05 February 2014

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

scientific article published on 26 November 2013

Typical pathological changes of CADASIL in the optic nerve.

scientific article

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

scientific article

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

scientific article

Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy ⬇️

scientific article published on January 5, 1979

Urinary oligosaccharides in lysosomal and other metabolic disorders.

scientific article published on March 1982

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

scientific article published on 01 January 1992

Vincamine TPS activity on glycoconjugate metabolism of the brain: effect on lysosomal enzymes

scientific article published on 01 January 1984

Visual System Involvement in CADASIL ⬇️

scientific article published on April 28, 2013

Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report

scientific article published on 01 January 1991

Vitamin E serum levels in Rett syndrome.

scientific article published in April 1998

Voxel-Based Assessment of Differences in Damage and Distribution of White Matter Lesions Between Patients With Primary Progressive and Relapsing-Remitting Multiple Sclerosis

scientific article published on 01 February 2008

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

scientific article

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

scientific article published on January 19, 2011

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

scientific article published in April 2004

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

scientific article published on 29 January 2012

[1st experience in the automatic monitoring of carbor at risk. Evaluation of uterine contractions by means of a hybrid computer]

scientific article published in February 1976

[A study of glycoproteins in the adult human brain (author's transl)]

scientific article published on 01 October 1974

[Biochemical diagnosis of subacute and chronic neuropathies]

scientific article published on 01 April 1984

[Cerebrospinal fluid immunoglobulins and neurological diseases]

scientific article published on 01 September 1975

[Cerebrospinal fluid immunoglobulins and neurological diseases]

scientific article published on 01 March 1976

[Cerebrotendinous xanthomatosis. A case report]

scientific article published on 01 March 1996

[Complications and safety in the use of hyperbaric subarachnoid anesthesia in aged patients]

scientific article published on 01 July 1982

[Electric therapy of hyperkinetic ventricular arrhythmia in subjects with acute myocardial infarct associated with conduction disorders subjected to temporary stimulation]

scientific article published on 01 October 1982

[Electric therapy of ventricular hyperkinetic arrhythmias in patients with acute myocardial infarct associated with a defect of conduction subjected to temporary stimulation]

scientific article published on 01 October 1982

[Familial sulfatidosis associated with systemic ponto-cerebellar atrophy: clinical, biochemical, genetic and anatomo-pathological study]

scientific article published on 01 May 1974

[Glycoproteins during development of the human brain]

scientific article published on 01 July 1974

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

scientific article published on 01 September 1975

[Rubinstein-Taybi syndrome with multiple keloids]

scientific article published on 01 January 1986

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