Jamileh Rezazadeh Varaghchi

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis

H. Galehdari, A. Sedaghat, Jawaher Zeighami, 2019, Iranian journal of child neurology.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.