A. Federico

发表

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

L. Murri, M. Mancuso, G. Siciliano, 2003, Neuromuscular Disorders.

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

U. Bonuccelli, A. Malandrini, A. Federico, 1996, Journal of submicroscopic cytology and pathology.

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

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

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

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

Evidence of early cortical atrophy in MS

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

Requests for electromyography from general practitioners and specialists: critical evaluation

A. Federico, M. Mondelli, M. Giacchi, 1998, The Italian Journal of Neurological Sciences.

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

R. Carrozzo, C. Angelini, G. Siciliano, 1992, Neuromuscular Disorders.

Mitochondrial Abnormalities in Genetically Assessed Oculopharyngeal Muscular Dystrophy

F. Ginanneschi, A. Malandrini, A. Federico, 2004, European Neurology.

Heritable and non-heritable uncommon causes of stroke

J. Finsterer, M. Dichgans, M. Mancuso, 2020, Journal of Neurology.

BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement

A. Rossi, C. Scarpini, A. Federico, 1990, Acta neurologica Scandinavica.

Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder

U. Bonuccelli, G. Guazzi, A. Malandrini, 1988, Journal of Inherited Metabolic Disease.

DIAGNOSTIC VALUE OF ULTRASTRUCTURAL SKIN BIOPSY STUDIES IN CADASIL

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

Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient

L. Pantoni, D. Inzitari, A. Federico, 2006, Acta neurologica Scandinavica.

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

A. Federico, S. Tripodi, C. Battisti, 2000, Life sciences.

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

A. Federico, C. Battisti, P. Formichi, 2006, Journal of cellular physiology.

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

A. Federico, P. Tosi, S. Tripodi, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Mitochondrial alterations in muscle biopsies of patients on statin therapy.

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

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Exercise-induced bilateral anterior tibial compartment syndrome without pain

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

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

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

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

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

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.

E. Bertini, P. Tonali, A. Federico, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

J. Martín, G. Guazzi, A. Malandrini, 1999, Acta Neuropathologica.

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

P. Matthews, D. Arnold, S. Narayanan, 2000, Journal of neurovirology.

The clinical aspects of adult hexosaminidase deficiencies.

G. Guazzi, A. Malandrini, A. Federico, 1991, Developmental neuroscience.

Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies.

A. Federico, 1991, Developmental neuroscience.

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

L. Pantoni, D. Inzitari, A. Federico, 2010, Neurology.

Clinical, familial, and neuroimaging features of CADASIL‐like patients

L. Pantoni, D. Inzitari, A. Federico, 2015, Acta neurologica Scandinavica.

Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

M. Battaglini, L. Pantoni, D. Inzitari, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

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

A. Federico, M. Dotti, C. Battisti, 2008, Journal of the Neurological Sciences.

First report of a Romanian CADASIL patient following immigration to Italy

L. Pantoni, D. Inzitari, A. Federico, 2007, European journal of neurology.

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

A. Federico, L. Chessa, M. Fiorilli, 1992, American journal of medical genetics.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

E. Bertini, A. Mégarbané, A. Federico, 2003, Neurology.

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

N. Bresolin, G. Comi, S. Corti, 2008, Neurology.

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

G. Guazzi, A. Malandrini, A. Federico, 1988, Neuropediatrics.

Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils

A. Malandrini, A. Federico, M. Dotti, 2006, European Neurology.

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

A. Federico, M. Dotti, E. Cardaioli, 1999, Journal of submicroscopic cytology and pathology.

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

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

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

M. Di Paolo, A. Malandrini, A. Federico, 2004, Journal of clinical forensic medicine.

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

G. Guazzi, A. Malandrini, A. Federico, 1993, Ophthalmic paediatrics and genetics.

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

A. Federico, M. Dotti, I. Di Donato, 2014, Current molecular medicine.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

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

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

E. Malfatti, A. Malandrini, A. Federico, 2008, Journal of the Neurological Sciences.

Familial multiple exostoses syndrome: a phacomatosis of bone tissue.

A. Federico, M. Dotti, F. Giannini, 1986, Acta neurologica.

Pregnancy in CADASIL

L. Pantoni, D. Inzitari, A. Federico, 2017, Acta neurologica Scandinavica.

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

A. Rossi, C. Scarpini, A. Federico, 1991, Acta neurologica Scandinavica.

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

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

Diffuse structural and metabolic brain changes in Fabry disease

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

Imaging neuronal and axonal degeneration in multiple sclerosis

N. Stefano, A. Federico, M. Stromillo, 2003, Neurological Sciences.

Voxel-Level Cross-Subject Statistical Analysis of Brain Atrophy in early Relapsing Remitting MS patients

Mark Jenkinson, N. De Stefano, Stephen M. Smith, 2003 .

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

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

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

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

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

M. Battaglini, S. Marino, C. Di Perri, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Overview of Magnetic Resonance Spectroscopy Studies in White Matter Diseases Other than Multiple Sclerosis

N. Stefano, A. Federico, 2001 .

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

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

Contents Vol. 31, 1999

M. Holzgraefe, S. Posse, A. Michotte, 1999, European Surgical Research.

Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy

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

Cortical lesions in radiologically isolated syndrome

M. Battaglini, A. Giorgio, M. Stromillo, 2011, Neurology.

Imaging axonal damage in multiple sclerosis by means of MR spectroscopy

Shrikanth S. Narayanan, D. Arnold, A. Federico, 2000, Neurological Sciences.

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

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

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

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

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

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

Ataxia with vitamin E deficiency: update of molecular diagnosis

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

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

A. Malandrini, A. Federico, C. Battisti, 1991, European neurology.

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

A. Federico, C. Battisti, P. Formichi, 2003, Journal of submicroscopic cytology and pathology.

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

A. Malandrini, A. Federico, M. Dotti, 1997, Journal of submicroscopic cytology and pathology.

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

L. Pantoni, D. Inzitari, A. Federico, 2010, Journal of Neurology.

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

G. Guazzi, A. Malandrini, A. Federico, 1990, European neurology.

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

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

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

G. Caruso, P. Barone, G. Coppola, 2000, Movement disorders : official journal of the Movement Disorder Society.

Prominent brain axonal damage and functional reorganization in “pure” adrenomyeloneuropathy

S. Marino, P. Bramanti, M. De Luca, 2007, Neurology.

Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments.

G. Guazzi, A. Malandrini, A. Federico, 1991, European neurology.

Cytogenetic studies of three families with ataxia-telangiectasia (Louis-Bar syndrome)

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

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

A. Malandrini, A. Federico, M. Muglia, 2005, Neurology.

GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.

A. Federico, 1987, Advances in experimental medicine and biology.