Functional impairments in NBIA patients: Preliminary results
Author:
Affiliation:
1. Department of Rehabilitation, The Children's Memorial Health Institute, Warszawa, Poland.
2. Olinek, Warszawa, Poland.
3. NBIA Polska, Warszawa, Poland.
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Link
https://www.jstage.jst.go.jp/article/irdr/13/3/13_2024.01019/_pdf
Reference21 articles.
1. 1. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2012; 27:42-53.
2. 2. Kruer MC, Boddaert N. Neurodegeneration with brain iron accumulation: a diagnostic algorithm. Semin Pediatr Neurol. 2012; 19:67-74.
3. 3. Di Meo I, Tiranti V. Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol. 2018; 22:272-284.
4. 4. Kolarova H, Tan J, Strom TM, Meitinger T, Wagner M, Klopstock T. Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine. 2022; 77:103869.
5. 5. Kurian MA, Hayflick SJ. Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): Review of two major neurodegenerations with brain iron accumulation (NBIA) phenotypes. Int Rev Neurobiol. 2013; 110:49-71.
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