Luca Soliani

Bologna, Italy

Last Updated: 09/26/2026

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Found 28 publications

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Journal: Molecular genetics and metabolism

Published: December 05, 2025

Moving Toes Syndrome in Children and Youth: Case Series of a Rare Disorder.

Moving Toes Syndrome in Children and Youth: Case Series of a Rare Disorder.

Journal: Journal of child neurology

Published: October 21, 2025

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 17, 2025

Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

Journal: Annals of neurology

Published: September 07, 2025

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 03, 2025

Neurocognitive Assessment in Children With Prenatal Diagnosis of Apparently Isolated Obliteration of Cavum Septi Pellucidi.

Neurocognitive Assessment in Children With Prenatal Diagnosis of Apparently Isolated Obliteration of Cavum Septi Pellucidi.

Journal: Prenatal diagnosis

Published: July 04, 2025

Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

Journal: Neuromodulation : journal of the International Neuromodulation Society

Published: March 17, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.

Journal: Brain : a journal of neurology

Published: March 15, 2025

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Journal: Neurology

Published: March 06, 2025

Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.

Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.

Journal: Movement disorders clinical practice

Published: February 03, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Showing 1-12 of 28

Last Updated: 09/26/2026