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

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.261-265

2017

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A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.421-429

2014

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

Journal of neurology, 2017-05, Vol.264 (5), p.862-874

2017

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

PloS one, 2018-01, Vol.13 (1), p.e0190878-e0190878

2018

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

Dementia and geriatric cognitive disorders extra, 2018-01, Vol.8 (1), p.104-116

2018

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MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

Journal of neurology, neurosurgery and psychiatry, 2015-05, Vol.86 (5), p.537-542

2015

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Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8792

2022

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

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-353, Article 353

2021

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

Journal of neurology, 2015-01, Vol.262 (1), p.134-141

2015

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NGS in Hereditary Ataxia: When Rare Becomes Frequent

International journal of molecular sciences, 2021-08, Vol.22 (16), p.8490

2021

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Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study

PloS one, 2014-02, Vol.9 (2), p.e89410-e89410

2014

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Discordant manifestations in Italian brothers with GNE myopathy

Journal of the neurological sciences, 2018-03, Vol.386, p.1-3

2018

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Primary familial brain calcification: update on molecular genetics

Neurological sciences, 2015-05, Vol.36 (5), p.787-794

2015

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Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1643-1655

2014

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Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions

Frontiers in neurology, 2018-04, Vol.9, p.274-274

2018

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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Frontiers in pediatrics, 2020-07, Vol.8

2020

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

Alzheimer's & dementia, 2016-04, Vol.12 (4), p.407-418

2016

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Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study

Human brain mapping, 2012-08, Vol.33 (8), p.1780-1791

2012

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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.527-536

2015

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Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis

PloS one, 2012-02, Vol.7 (2), p.e31015-e31015

2012

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

Anesthesiology (Philadelphia), 2008-10, Vol.109 (4), p.625-628

2008

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

Journal of neurology, 2014-03, Vol.261 (3), p.617-619

2014

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Chorein detection for the diagnosis of chorea-acanthocytosis

Annals of neurology, 2004-08, Vol.56 (2), p.299-302

2004

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

NeuroImage clinical, 2019-01, Vol.22, p.101789-101789, Article 101789

2019

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First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

Journal of neurology, 2011-09, Vol.258 (9), p.1632-1636

2011

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

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

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

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

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

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

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

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

NGS in Hereditary Ataxia: When Rare Becomes Frequent

Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study

Discordant manifestations in Italian brothers with GNE myopathy

Primary familial brain calcification: update on molecular genetics

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

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

Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis

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

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

Chorein detection for the diagnosis of chorea-acanthocytosis

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

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

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