Daniela Di Bella

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

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Articles (16)

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2025

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2024

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2024

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2020

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2020

Collaborators (11)

Vincent Huin

Associate professor

Université de Lille

FRANCE

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Franco Taroni

Head

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Anna Castaldo

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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ROBERTO CILIA

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Mercedes Serrano

Associate Professor

University of Barcelona

SPAIN

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Elena Rossini

Sapienza University of Rome

ITALY

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Stefania Magri

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Alessia Mongelli

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Viviana Pensato

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Mariarita Galbiati

Associate Professor

Università degli Studi di Torino

ITALY

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Gianluca Marucci

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Daniela Di Bella

Research Interests

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Articles (16)

Myoclonic manifestations and skin inclusions as diagnostic clues in ATP13A2-related disorders.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Complex Ataxia‐Dementia Phenotype in Patients with Digenic <i>TBP/STUB1</i> Spinocerebellar Ataxia

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Crossing the border between epileptic and vascular pathology: a report of CACNA1A-related treatment-resistant hemiplegic migraine.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Parkinsonism and Nigrostriatal Damage Secondary to CSF1R-Related Primary Microgliopathy.

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Collaborators (11)

Vincent Huin

Franco Taroni

Anna Castaldo

ROBERTO CILIA

Mercedes Serrano

Elena Rossini

Stefania Magri

Alessia Mongelli

Viviana Pensato

Mariarita Galbiati

Gianluca Marucci

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