Francesco D. Tiziano

Rome, Italy

Last Updated: 09/26/2026

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Found 48 publications

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine

Published: December 17, 2025

The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health.

The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health.

Journal: Journal of community genetics

Published: June 19, 2025

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study.

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study.

Journal: Annals of clinical and translational neurology

Published: February 20, 2025

Ataxia-Telangiectasia Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias.

Ataxia-Telangiectasia Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias.

Journal: Movement disorders clinical practice

Published: December 13, 2024

Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Journal: International journal of molecular sciences

Published: September 26, 2024

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Journal: Neurology. Genetics

Published: August 26, 2024

Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Journal: Brain communications

Published: July 25, 2024

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Journal: European journal of pediatrics

Published: May 29, 2024

Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy.

Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy.

Journal: International journal of cardiology

Published: May 23, 2024

Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.

Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.

Journal: Headache

Published: May 02, 2024

Structural and functional alterations of neurons derived from sporadic Alzheimer's disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis.

Structural and functional alterations of neurons derived from sporadic Alzheimer's disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis.

Journal: Alzheimer's research & therapy

Published: April 11, 2024

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Journal: European journal of pediatrics

Published: January 17, 2024

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Last Updated: 09/26/2026