Luca Bosco

Università degli Studi di Roma La Sapienza

Italy

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Articles (9)

Year:

2022

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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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2020

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2020

Collaborators (2)

Deborah Sival

expertise center movement disorders groningen university medical center groningen

NETHERLANDS

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Serenella SERVIDEI

Università Cattolica del Sacro Cuore

ITALY

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Luca Bosco

Research Interests

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Articles (9)

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies (Orphanet Journal of Rare Diseases, (2021), 16, 1, (425), 10.1186/s13023-021-02055-1)

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties

Clinical phenotypes of infantile onset CACNA1A-related disorder

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Collaborators (2)

Deborah Sival

Serenella SERVIDEI

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