Maria T. Giannini - Publications

Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.

Journal: Parkinsonism & related disorders

Published: December 26, 2025

Development and psychometric properties of the Italian little developmental coordination disorder questionnaire (LDCDQ-IT).

Journal: Research in developmental disabilities

Published: May 19, 2024

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient.

Journal: Movement disorders clinical practice

Published: December 08, 2022

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.

Journal: Neurology. Genetics

Published: April 16, 2020

Movement Disorders - Childhood Rating Scale 4-18 revised in children with dyskinetic cerebral palsy.

Journal: European journal of physical and rehabilitation medicine

Published: January 25, 2020

Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.

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

Published: January 09, 2018

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Journal: Neurology

Published: May 30, 2016

Very early pattern of movement disorders in sepiapterin reductase deficiency.

Journal: Neurology

Published: November 12, 2013

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency.

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

Published: August 03, 2012

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.

Journal: Brain & development

Published: March 12, 2012

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Journal: JIMD reports

Published: January 04, 2012