Martino Montomoli
Florence, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Expanding the Motor Phenotype and Molecular Spectrum of NAA15-Related Disorder: Two Cases of Isolated Childhood-Onset Gait Dystonia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 12, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.
Journal: European journal of human genetics : EJHG
Published: February 21, 2026
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry.
Journal: Epilepsia
Published: May 08, 2025
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 10, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Journal: European journal of medical genetics
Published: February 22, 2023
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Journal: Molecular genetics and metabolism
Published: June 13, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Journal: Journal of clinical medicine
Published: May 22, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 05, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: December 19, 2020
Deciphering the premature mortality in PIGA-CDG - An untold story.
Journal: Epilepsy research
Published: July 11, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 08, 2020
Last Updated: 09/26/2026