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Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 6, 2024
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practiceMaría Eugenia Amato, Alejandra Darling, Lucie Stovickova, et al.Plos One|February 6, 2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceAmanda Jefferson, Helen Leonard, Aris Siafarikas, et al.Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.Neurology(R) Neuroimmunology & Neuroinflammation|October 13, 2022
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating SyndromeEva Maria Wendel, Helen Sophie Thonke, Annikki Bertolini, et al.Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.Pageof 3