Antonio Romito
Rostock, MV 18055, Germany
Last Updated: 09/26/2026
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Found 8 publications
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 09, 2025
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Journal: Molecular genetics & genomic medicine
Published: February 27, 2023
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 12, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Journal: Clinical genetics
Published: June 02, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 26, 2022
Pluripotent Stem Cells: Current Understanding and Future Directions.
Journal: Stem cells international
Published: June 22, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026