Luca Sbaiz
Turin, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.
Journal: Neuromuscular disorders : NMD
Published: May 09, 2026
Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.
Journal: BMJ open
Published: December 08, 2025
Brain Metabolic Features of FUS-ALS: A 2-[18F]FDG-PET Study.
Journal: Annals of neurology
Published: July 25, 2024
Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.
Journal: Neurology
Published: January 23, 2024
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Journal: Annals of neurology
Published: January 14, 2024
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.
Journal: Neurology. Genetics
Published: March 01, 2022
Systematic evaluation of genetic mutations in ALS: a population-based study.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: January 23, 2022
Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: October 21, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Journal: JAMA neurology
Published: August 30, 2021
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Journal: European journal of nuclear medicine and molecular imaging
Published: July 25, 2021
GBA variants influence cognitive status in amyotrophic lateral sclerosis.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: June 20, 2021
Last Updated: 09/26/2026