Fabio Bruschi

6PUBLICATIONS
25CO-AUTHORS
Developmental genetics (incl. sex determination)Electrochemical energy storage and conversionNeurology and neuromuscular diseasesGene and molecular therapyChild and adolescent development
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Publications (6)

|Jul 17, 2026
Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches.

|May 08, 2026
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.

|Apr 01, 2026
Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.

Fabio Bruschi, Clara E Antonello, Cecilia Parazzini

|Feb 09, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Troy C Lund, Kelly Miettunen, Yorrick R J Jaspers

|Oct 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Fabio Bruschi, Ylenia Vaia, Clara E Antonello

|Oct 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti

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Frequent Collaborators

1 joint publications

Luisella Alberti

1 joint publications

Filippo Arrigoni

1 joint publications

Laura Cappelletti

1 joint publications

Elisa Cattaneo