Annalaura Torella

Naples, Italy

Last Updated: 09/26/2026

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Found 138 publications

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations.

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations.

Journal: Frontiers in medicine
Published: February 27, 2026

RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.

RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.

Journal: Endocrine connections
Published: November 05, 2025

RTN4IP1 Mutation and Endocrine Failure: Clinical Features and Possible Benefits of Coenzyme Q10.

RTN4IP1 Mutation and Endocrine Failure: Clinical Features and Possible Benefits of Coenzyme Q10.

Journal: Endocrine connections
Published: November 05, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation
Published: November 03, 2025

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: October 03, 2025

C-Kit Is Essential for Vascular Smooth Muscle Cell Phenotypic Switch In Vitro and In Vivo After Injury.

C-Kit Is Essential for Vascular Smooth Muscle Cell Phenotypic Switch In Vitro and In Vivo After Injury.

Journal: Cells
Published: September 27, 2025

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD.

RNA cargo profiling of muscle extracellular vesicles identifies candidate biomarkers of disease activity and muscle degeneration in FSHD.

Journal: Journal of translational medicine
Published: September 15, 2025

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

Journal: Communications biology
Published: September 06, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

Journal: Clinical genetics
Published: May 30, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open
Published: May 05, 2025

Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

Journal: European journal of human genetics : EJHG
Published: April 08, 2025
Showing 1-12 of 138

Last Updated: 09/26/2026