Afshin Saffari
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 56 publications
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.
Journal: Annals of clinical and translational neurology
Published: October 06, 2025
Diagnostic yield of genome sequencing in children with progressive movement disorders.
Journal: Brain : a journal of neurology
Published: September 02, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Journal: Annals of neurology
Published: March 04, 2025
Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking.
Journal: bioRxiv : the preprint server for biology
Published: March 03, 2025
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Journal: International journal of molecular sciences
Published: October 02, 2024
STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
Journal: Movement disorders clinical practice
Published: September 19, 2024
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2024
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Journal: Orphanet journal of rare diseases
Published: July 31, 2024
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Journal: The Journal of clinical investigation
Published: July 11, 2024
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
Last Updated: 09/26/2026