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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

Neurobiology of disease, 2023-12, Vol.189, p.106349-106349, Article 106349

2023

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Alterations in brain and immune function produced by mindfulness meditation

Psychosomatic medicine, 2003-07, Vol.65 (4), p.564-570

2003

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Deep neurological phenotyping in oculo-dento-digital syndrome

Neurological sciences, 2024-06, Vol.45 (6), p.2853-2857

2024

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The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

European journal of neurology, 2020-03, Vol.27 (3), p.498-505

2020

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Dem-Aging: autophagy-related pathologies and the “two faces of dementia”

Neurogenetics, 2024-01, Vol.25 (1), p.39-46

2024

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Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond

Journal of the neurological sciences, 2024-05, Vol.460, p.123012, Article 123012

2024

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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

European journal of neurology, 2013-01, Vol.20 (1), p.138-146

2013

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Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Neurology, 2009-05, Vol.72 (21), p.1802-1809

2009

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Orphanet journal of rare diseases, 2016-07, Vol.11 (1), p.91, Article 91

2016

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Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

European journal of neurology, 2016-10, Vol.23 (10), p.1580-1587

2016

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Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Neurology, 2013-03, Vol.80 (10), p.963-965

2013

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Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

Current molecular medicine, 2014-10, Vol.14 (8), p.1043-1051

2014

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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

Journal of neurology, 2022-03, Vol.269 (3), p.1413-1421

2022

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Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Neurology, 2010-10, Vol.75 (16), p.1459-1464

2010

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Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

Neurology, 2006-04, Vol.66 (8), p.1207-1210

2006

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Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Journal of the neurological sciences, 2019-04, Vol.399, p.69-75

2019

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Muscle MRI in TRPV4-related congenital distal SMA

Neurology, 2012-01, Vol.78 (5), p.364-365

2012

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Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2020-04, Vol.21 (3-4), p.312-313

2020

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Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Neurogenetics, 2019-08, Vol.20 (3), p.165-172

2019

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Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Journal of neurology, 2015-12, Vol.262 (12), p.2755-2763

2015

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Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.444-448

2016

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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

Human mutation, 2008-02, Vol.29 (2), p.330-331

2008

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Acute optic neuropathy associated with a novel MFN2 mutation

Journal of neurology, 2015-07, Vol.262 (7), p.1678-1680

2015

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Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs

Neurology, 2009-05, Vol.72 (18), p.1588-1594

2009

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Familial basilar migraine associated with a new mutation in the ATP1A2 gene

Neurology, 2005-12, Vol.65 (11), p.1826-1828

2005

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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

Alterations in brain and immune function produced by mindfulness meditation

Deep neurological phenotyping in oculo-dento-digital syndrome

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Dem-Aging: autophagy-related pathologies and the “two faces of dementia”

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Muscle MRI in TRPV4-related congenital distal SMA

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

Acute optic neuropathy associated with a novel MFN2 mutation

Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs

Familial basilar migraine associated with a new mutation in the ATP1A2 gene

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