Items where authors include "Maroofian, R."

Article

Ni, C., Wei, Y., Vona, B. et al. (53 more authors) (2025) A programmed decline in ribosome levels governs human early neurodevelopment. Nature Cell Biology, 27. pp. 1240-1255. ISSN 1465-7392

Poleg, T., Hadar, N., Kristal, E. et al. (19 more authors) (2025) Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B. Movement Disorders. ISSN 0885-3185

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2025) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain, 148 (4). pp. 1194-1211. ISSN 0006-8950

Maroofian, R., Sarraf, P., O'Brien, T.J. et al. (30 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

Maroofian, R. orcid.org/0000-0001-6763-1542, Sarraf, P., O’Brien, T.J. et al. (29 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

Saffari, A., Lau, T. orcid.org/0000-0003-0514-1729, Tajsharghi, H. et al. (98 more authors) (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 0006-8950

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Belles, R.S., Salbert, B.A. et al. (21 more authors) (2023) The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical Genetics, 104 (1). pp. 121-126. ISSN 0009-9163

Saida, K., Maroofian, R., Sengoku, T. et al. (84 more authors) (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine, 25 (1). pp. 90-102. ISSN 1098-3600

Rosenhahn, E., O’Brien, T.J., Zaki, M.S. et al. (44 more authors) (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics, 109 (8). pp. 1421-1435. ISSN 0002-9297