Last Updated: 09/26/2026
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Found 5 publications
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
Journal: American journal of medical genetics. Part A
Published: July 08, 2024
Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients.
Journal: JAMA network open
Published: October 24, 2023
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Journal: American journal of human genetics
Published: September 23, 2023
The role of neuropsychiatry in the care of children and adults with cerebral palsy
Journal: BJPsych open
Published: June 01, 2022
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Journal: Annals of clinical and translational neurology
Published: November 16, 2021
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Last Updated: 09/26/2026