Shahryar Alavi

Shahryar Alavi

University College London - London / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5546721
person_outline Shahryar Alavi's MOST POPULAR ARTICLES
1-) Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLE Novis, RS Frezatti, D Pellerin, PJ Tomaselli, S Alavi, MV Della Coleta, ...Neurology: Genetics 9 (5), e200094, 2023
2-) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsK Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ...Genetics in Medicine 25 (1), 90-102, 2023
3-) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsE Rosenhahn, TJ O\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Brien, MS Zaki, I Sorge, D Wieczorek, K Rostasy, ...The American Journal of Human Genetics 109 (8), 1421-1435, 2022142022
4-) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersA Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ...Brain 146 (8), 3273-3288, 202382023
5-) Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities …DG Calame, I Herman, R Maroofian, AE Marshall, KC Donis, JM Fatih, ...Annals of neurology 92 (2), 304-321, 202282022