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Neurology|May 13, 2014
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28Katrien Smets, Tine Deconinck, Jonathan Baets, et al.Journal of Neurology|May 12, 2023
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patientsChiara Benzoni, Marco Moscatelli, Laura Farina, et al.Nature Genetics|March 9, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, et al.Cell Death & Disease|September 27, 2024
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disordersMarta Cozzi, Stefania Magri, Barbara Tedesco, et al.Human Molecular Genetics|April 30, 2004
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populationsMarta Ribasés, Mònica Gratacòs, Fernando Fernández-Aranda, et al.Brain : a Journal of Neurology|April 19, 2016
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre studyMatthis Synofzik, Katrien Smets, Martial Mallaret, et al.Obesity Facts|July 17, 2012
Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosaTimo D Müller, Brandon H Greene, Laura Bellodi, et al.European Journal of Human Genetics : EJHG|January 20, 2005
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populationsMarta Ribasés, Mònica Gratacòs, Fernando Fernández-Aranda, et al.Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.Pageof 5