Maria Novelli

Rome, Italy

Last Updated: 09/26/2026

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Found 17 publications

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Journal: Science signaling

Published: October 28, 2025

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Journal: Neurology

Published: September 11, 2025

Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency.

Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency.

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

Published: July 28, 2025

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology

Published: October 28, 2024

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.

Journal: Movement disorders clinical practice

Published: September 19, 2024

Pediatric parkinsonism: In-depth clinical definition and semeiology.

Pediatric parkinsonism: In-depth clinical definition and semeiology.

Journal: Parkinsonism & related disorders

Published: June 18, 2024

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Journal: Movement disorders clinical practice

Published: April 18, 2024

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.

Journal: Clinical child psychology and psychiatry

Published: March 22, 2024

Comorbidities and Disease Duration in Tourette Syndrome: Impact on Cognition and Quality of Life of Children.

Comorbidities and Disease Duration in Tourette Syndrome: Impact on Cognition and Quality of Life of Children.

Journal: Children (Basel, Switzerland)

Published: January 12, 2024

Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study.

Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study.

Journal: La Clinica terapeutica

Published: December 04, 2023

Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.

Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.

Journal: Movement disorders clinical practice

Published: October 29, 2023

GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.

GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.

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

Published: July 13, 2023

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Last Updated: 09/26/2026