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3. Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

4. Sex-specific lesion pattern of functional outcomes after stroke.

6. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

7. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

8. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

9. Stimulation of mGluR1/5 Improves Defective Internalization of AMPA Receptors in NPC1 Mutant Mouse.

10. Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.

11. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

12. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.

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