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Lista de obras de Antonio Federico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 1996

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

artículo científico publicado en 1995

An Alternative Method of Left Ventricular Decompression during Aortocoronary Bypass ⬇️

artículo científico publicado el 1 de mayo de 1977

Analysis of myosin heavy chain functionality in the heart.

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 1982

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

artículo científico publicado en 1992

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

artículo científico publicado en 1986

Apoptosis and oxidative stress in neurodegenerative diseases.

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2000

Assessing pain in patients with dementia

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 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

artículo científico publicado en 2015

Ataxia with vitamin E deficiency: update of molecular diagnosis.

artículo científico publicado en 2010

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

artículo científico publicado en 1996

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 1980

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

artículo científico publicado en 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

artículo científico publicado en 2006

Brain mitochondrial impairment in ethylmalonic encephalopathy

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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.

artículo científico

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

artículo científico publicado en 2013

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

artículo científico publicado el 1 de enero de 1978

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

artículo científico publicado en 2013

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

artículo científico publicado en 1988

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

artículo científico publicado en 2006

Cerebrotendinous xanthomatosis

artículo científico publicado en 2001

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

artículo científico publicado en 1994

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

artículo científico publicado en 1991

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.

artículo científico publicado en 2003

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

artículo científico publicado en 1998

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de enero de 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).

artículo científico publicado en 1991

Chorein detection for the diagnosis of chorea-acanthocytosis

artículo científico publicado en 2004

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

artículo científico publicado en 1993

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

artículo científico publicado el 15 de diciembre de 2010

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

artículo científico publicado en 2008

Chronic progressive leptomeningitis associated with measles virus.

artículo científico publicado en 1997

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

article

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Cochleovestibular investigation in progressive myoclonus epilepsy

artículo científico publicado en 1983

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

artículo científico publicado en 2008

Commentary to mitDNA research for the pathogenesis of mitochondrial disorders

artículo científico publicado en 2005

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

artículo científico publicado en 1990

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

artículo científico publicado en 1989

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

artículo científico publicado en 2001

Cortical lesions in radiologically isolated syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2004

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.

artículo científico publicado en 1999

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

artículo científico publicado en 1999

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

artículo científico publicado el 1 de junio de 1979

Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies.

artículo científico publicado en 1991

Diagnostic value of ultrastructural skin biopsy studies in CADASIL.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado el 1 de mayo de 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).

artículo científico publicado en 2015

Fabry's disease and cerebrovascular disorders

artículo científico publicado en 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

artículo científico publicado en 1995

Familial lead poisoning from contaminated wine

scientific article published on 01 August 1981

Familial multiple exostoses syndrome: a phacomatosis of bone tissue

artículo científico publicado en 1986

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

artículo científico publicado en 2013

First report of an Iraqi Kurdish CADASIL patient

artículo científico publicado en 2010

Four novel CYP27A1 mutations in seven Italian patients with CTX

artículo científico publicado en 2010

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

artículo científico publicado en 1997

Fulminant intravascular lymphomatosis mimicking acute haemorrhagic leukoencephalopathy.

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Gene symbol: NOTCH3. Disease: CADASIL

artículo científico publicado en 2005

Gene symbol: NOTCH3. Disease: CADASIL

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado el 1 de agosto de 1978

Glycosaminoglycan and glycoprotein changes in subacute sclerosing leucoencephalitis

artículo científico publicado en 1981

Glycosaminoglycans and Glycoproteins in Metachromatic Leucodystrophy ⬇️

artículo científico publicado el 1 de enero de 1977

Glycosidases and cerebellar ontogenesis in the rat

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 1992

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

artículo científico publicado en 2000

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2002

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

artículo científico publicado en 1974

Homozygosity and severity of phenotypic presentation in a CADASIL family.

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.

artículo científico publicado en 2012

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

artículo científico publicado el 1 de enero de 1979

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 1992

Impaired vasoreactivity in mildly disabled CADASIL patients

artículo científico publicado en 2011

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

artículo científico publicado el 1 de octubre de 1983

Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Is the oxidant/antioxidant status altered in CADASIL patients?

artículo científico publicado en 2013

Isotopic cardiac pacemaker: clinical use

artículo científico publicado en 1974

Italian neurology: past, present and future.

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 1991

Leukoencephalopathy as a rare complication of hepatitis C infection.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Lithium neurotoxicity mimicking rapidly progressive dementia.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

MR correlates of cerebral atrophy in patients with multiple sclerosis.

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Magnetic resonance imaging findings in Leber's hereditary optic neuropathy

artículo científico publicado en 1992

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

artículo científico publicado en 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.

artículo científico publicado en 1993

Mitochondria, oxidative stress and neurodegeneration.

artículo científico

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

artículo científico publicado en 1999

Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.

artículo científico publicado en 2004

Mitochondrial alterations in muscle biopsies of patients on statin therapy

artículo científico publicado en 2004

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

artículo científico publicado en 1993

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

artículo científico publicado en 1995

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

artículo científico publicado en 2015

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

artículo científico publicado en 1988

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Multiple sclerosis. Etiopathogenetic review

artículo científico publicado en 1975

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

artículo científico publicado en 2008

Muscle mitochondrial changes in cerebrotendinous xanthomatosis

artículo científico publicado en 1991

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

artículo científico publicado en 1994

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case

scientific article published on 01 November 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.

artículo científico publicado en 2006

Nemaline myopathy: description of an adult onset case

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Neurochemical changes in Creutzfeldt-Jakob disease

artículo científico publicado en 1980

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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 1989

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 1987

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

artículo científico publicado en 2004

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

artículo científico publicado en 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"

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de abril de 1992

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

artículo científico publicado en 2009

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

artículo científico publicado en 1993

Oral self-mutilation in a patient with rhombencephalosynapsys.

artículo científico publicado en 2000

Oxidative stress-induced apoptosis in two patients with Alagille syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 1997

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2006

Physiology and pathology of notch signalling system.

artículo científico publicado en 2006

Plasma levels of vitamin E in Parkinson's disease

artículo científico publicado en 1995

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

artículo científico publicado en 1995

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

artículo científico publicado en 2011

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

artículo científico publicado en 1994

Primary familial brain calcification: Genetic analysis and clinical spectrum

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de agosto de 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

artículo científico publicado en 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.

artículo científico publicado en 2000

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

artículo científico publicado en 2001

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

artículo científico publicado en 2007

Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis.

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Rare mononeuropathies of the upper limb in bodybuilders

artículo científico publicado en 1998

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

artículo científico publicado en 2007

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

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

artículo científico publicado el 1 de noviembre de 1975

Relevance of brain lesion location to cognition in relapsing multiple sclerosis

artículo científico publicado en 2012

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Retinochoroidal atrophy in two adult patients with Angelman syndrome

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 1981

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

artículo científico publicado en 1998

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

artículo científico publicado en 2009

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.

artículo científico publicado en 1992

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

artículo científico publicado en 1993

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

artículo científico publicado en 2004

Serum vitamin E in inherited ataxias

artículo científico publicado en 1990

Simplified phase-recovery method in temporal speckle pattern interferometry.

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Stability of lysosomal enzyme activity in post-mortem rat brain

artículo científico publicado el 1 de febrero de 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

artículo científico publicado en 1999

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

artículo científico publicado el 1 de mayo de 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.

artículo científico publicado en 1982

Sweat gland vacuoles in Unverricht-Lundborg disease

artículo científico publicado el 1 de julio de 1997

Tarlov cysts: clinical evaluation of an Italian cohort of patients

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 1996

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

artículo científico publicado en 2012

The Clinical Aspects of Adult Hexosaminidase Deficiencies ⬇️

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 1987

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2006

The teaching of neurology in the degree course in dentistry

artículo científico publicado en 1993

Therapeutic hypothermia: a case study.

artículo científico publicado en 2010

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Treatment of cerebrotendinous xanthomatosis

scientific article published on 01 November 1994

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Two novel HTRA1 mutations in a European CARASIL patient

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Typical pathological changes of CADASIL in the optic nerve.

artículo científico publicado en 2005

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

artículo científico publicado en 1997

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

artículo científico publicado en 2014

Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy ⬇️

artículo científico publicado el 5 de enero de 1979

Urinary oligosaccharides in lysosomal and other metabolic disorders.

artículo científico publicado en 1982

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

artículo científico publicado en 1992

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

scientific article published on 01 January 1984

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

artículo científico publicado en 1991

Vitamin E serum levels in Rett syndrome.

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado el 19 de enero de 2011

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

artículo científico publicado en 2004

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

artículo científico publicado en 2012

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

artículo científico publicado en 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]

artículo científico publicado en 1975

[Cerebrospinal fluid immunoglobulins and neurological diseases]

artículo científico publicado en 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]

artículo científico publicado en 1974

[Glycoproteins during development of the human brain]

artículo científico publicado en 1974

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

artículo científico publicado en 1975

[Rubinstein-Taybi syndrome with multiple keloids]

artículo científico publicado en 1986

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