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Neurology|February 6, 2026
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and ResearchHemmo A F Yska, Marianne Golse, Damien Galanaud, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Annals of the Rheumatic Diseases|January 28, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 22, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
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