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Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
Human Genetics|January 6, 2017
Association of AHSG with alopecia and mental retardation (APMR) syndromeM Reza Sailani, Fereshteh Jahanbani, Jafar Nasiri, et al.
Plos One|November 19, 2013
Rare variants in PLXNA4 and Parkinson's diseaseEva C Schulte, Immanuel Stahl, Darina Czamara, et al.
Plos Genetics|September 21, 2020
Candidate variants in TUB are associated with familial tremorM Reza Sailani, Fereshteh Jahanbani, Charles W Abbott, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Annals of Clinical and Translational Neurology|August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8Diane Doummar, Marco Treven, Leila Qebibo, et al.
Clinical Epigenetics|January 4, 2026
Genome-wide DNA methylation patterns for indicators of liver steatosis: a longitudinal multiomic studyJo Ciantar, Sonja Rajić, Daria Kostiniuk, et al.
Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.
Clinical Epigenetics|July 23, 2021
Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAsSaara Marttila, Leena E Viiri, Pashupati P Mishra, et al.
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