Stefania Magri

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

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Articles (10)

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2022

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2022

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2021

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2021

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2021

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2021

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2021

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2021

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2021

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2021

Collaborators (4)

Anna Castaldo

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Daniela Di Bella

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Alessia Mongelli

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Giacomo Comi

Professore Ordinario

Università degli Studi di Torino

ITALY

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Stefania Magri

Research Interests

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Articles (10)

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

<i>DNAJB2</i> ‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening

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

Charcot–Marie–Tooth disease type 2F associated with biallelic <i>HSPB1</i> mutations

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

Erratum: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing (PLoS ONE (2020) 15: 9 (e0238467) DOI: 10.1371/journal.pone.0238467)

Evaluation of molecular inversion probe versus TruSeq (R) custom methods for targeted next-generation sequencing (vol 15, e0238467, 2020)

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Collaborators (4)

Anna Castaldo

Daniela Di Bella

Alessia Mongelli

Giacomo Comi

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