Last Updated: 09/26/2026
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Found 18 publications
First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial.
Journal: EBioMedicine
Published: January 11, 2025
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Journal: The New England journal of medicine
Published: October 23, 2024
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Journal: American journal of medical genetics. Part A
Published: July 09, 2024
Response to the letter by Josef Finsterer, MD, PhD.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 26, 2024
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Journal: medRxiv : the preprint server for health sciences
Published: March 18, 2024
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Journal: Orphanet journal of rare diseases
Published: March 14, 2024
Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: January 19, 2024
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D).
Journal: Scientific reports
Published: March 04, 2023
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Journal: Orphanet journal of rare diseases
Published: November 18, 2022
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics.
Journal: EBioMedicine
Published: June 02, 2022
ECHS1 deficiency and its biochemical and clinical phenotype.
Journal: American journal of medical genetics. Part A
Published: April 23, 2022
Last Updated: 09/26/2026