Smrithi Salian

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 2

Top Topics

Protein Protein

Endoplasmic Reticulum

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Kimberley M Reid, Robert V V Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen, Hiromi Hirata, Diba Sheipouri, Hind Benkerroum, Kathleen M Gorman, Apostolos Papandreou, Michael A Simpson, Yoshinobu Hirano, Irene Farabella, Andriy Kryshtafovych, Detelina Grozeva, Keren Jacqueline Carss, Martin Smith, Hardev Pall, Peter Lunt, Susanna De Gressi, Erik-Jan Kamsteeg, Tobias B Haack, Lucinda J Carr, Rita Guerreiro, Jose Bras, Eamonn R Maher, Richard H Scott, Robert J Vandenberg, F Lucy Raymond, Wui K Chong, Sniya Valsa Sudhakar, Kshitij Mankad, Maarten E A Reith, Philippe M Campeau, Robert J Harvey, Manju A Kurian
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement disorders : official journal of the Movement Disorder Society 37 (10) (2022)
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Anna Laura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna C E Hurst, Tawfeg Ben-Omran, Martin Jakob Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Hérissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo Nigro, Pasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Clinical genetics 100 (5) (2021)