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Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, 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.Brain : a Journal of Neurology|April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.EFSA Journal. European Food Safety Authority|July 7, 2020
EMA and EFSA Joint Scientific Opinion on measures to reduce the need to use antimicrobial agents in animal husbandry in the European Union, and the resulting impacts on food safety (RONAFA), David Murphy, Antonia Ricci, et al.Pageof 32