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Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careIvan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.
Neurology. Genetics|November 18, 2021
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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