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Select item 80820611.

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider

Front Neurol. 2021; 12: 629414. Published online 2021 Apr 15. doi: 10.3389/fneur.2021.629414

PMCID:: PMC8082061

Abstract Article PDF–391K

Select item 79376332.

Ivan Karin, Boriana Büchner, Florence Gauzy, Angelika Klucken, Thomas Klopstock

Front Neurol. 2021; 12: 642228. Published online 2021 Feb 22. doi: 10.3389/fneur.2021.642228

PMCID:: PMC7937633

Abstract Article PDF–1.8M

Select item 75891203.

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

Isabel Hinarejos, Candela Machuca, Paula Sancho, Carmen Espinós

Antioxidants (Basel) 2020 Oct; 9(10): 1020. Published online 2020 Oct 20. doi: 10.3390/antiox9101020

PMCID:: PMC7589120

Abstract Article PDF–908K

Select item 63533184.

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late‐Onset Craniocervical Dystonia: An Illustrative Case Series‎

Florian Brugger, Georg Kägi, Massimo Pandolfo, Niccolò E. Mencacci, Amit Batla, Sarah Wiethoff, Kailash P. Bhatia

Mov Disord Clin Pract. 2017 Mar-Apr; 4(2): 254–257. Published online 2016 Jul 18. doi: 10.1002/mdc3.12393

PMCID:: PMC6353318

Abstract Article PDF–99K

Select item 60596495.

Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN): Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes

Manju A. Kurian, Susan J. Hayflick

Int Rev Neurobiol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Int Rev Neurobiol. 2013; 110: 49–71. doi: 10.1016/B978-0-12-410502-7.00003-X

PMCID:: PMC6059649

Abstract Article PDF–419K

Select item 60596126.

Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick

Ann Neurol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 611–618. doi: 10.1002/ana.22122

PMCID:: PMC6059612

Abstract Article PDF–643K

Select item 36194457.

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

Michael C. Kruer, Reema Paudel, Wendy Wagoner, Lynn Sanford, Eleanna Kara, Allison Gregory, Tom Foltynie, Andrew Lees, Kailash Bhatia, John Hardy, Susan J. Hayflick, Henry Houlden

Neurosci Lett. Author manuscript; available in PMC 2013 Aug 8.

Published in final edited form as: Neurosci Lett. 2012 Aug 8; 523(1): 35–38. Published online 2012 Jun 25. doi: 10.1016/j.neulet.2012.06.036

PMCID:: PMC3619445

Abstract Article PDF–425K

Select item 35807938.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Susanne A Schneider, Petr Dusek, John Hardy, Ana Westenberger, Joseph Jankovic, Kailash P Bhatia

Curr Neuropharmacol. 2013 Jan; 11(1): 59–79. Published online 2013 Jan. doi: 10.2174/157015913804999469

PMCID:: PMC3580793

Abstract Article PDF–482K

Select item 108835469.

Nazo, the Drosophila homolog of the NBIA-mutated protein–c19orf12, is required for triglyceride homeostasis

Perinthottathil Sreejith, Sara Lolo, Kristen R. Patten, Maduka Gunasinghe, Neya More, Leo J. Pallanck, Rajnish Bharadwaj

PLoS Genet. 2024 Feb; 20(2): e1011137. Published online 2024 Feb 9. doi: 10.1371/journal.pgen.1011137

PMCID:: PMC10883546

Abstract Article PDF–4.2M

Select item 1023601010.

A Brief History of NBIA Gene Discovery

Susan J. Hayflick

J Mov Disord. 2023 May; 16(2): 133–137. Published online 2023 Apr 26. doi: 10.14802/jmd.23014

PMCID:: PMC10236010

Abstract Article PDF–227K

Select item 1011870611.

Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

Prajnya Ranganath, Mallikarjun Patil

J Pediatr Genet. 2023 Jun; 12(2): 163–166. Published online 2021 Feb 17. doi: 10.1055/s-0041-1723959

PMCID:: PMC10118706

Abstract Article PDF–1013K

Select item 1007997812.

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease

Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga

NPJ Parkinsons Dis. 2023; 9: 54. Published online 2023 Apr 6. doi: 10.1038/s41531-023-00496-y

PMCID:: PMC10079978

Abstract Article PDF–836K

Select item 984299813.

PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children

Nurani Widianti, Meta Herdiana Hanindita, Nur Aisiyah Widjaja, Roedi Irawan

Pak J Med Sci. 2023 Jan-Feb; 39(1): 310–313. doi: 10.12669/pjms.39.1.6801

PMCID:: PMC9842998

Abstract Article PDF–473K

Select item 936938314.

Long-Term Neuroradiological and Clinical Evaluation of NBIA Patients Treated with a Deferiprone Based Iron-Chelation Therapy

Nicola Romano, Giammarco Baiardi, Valeria Maria Pinto, Sabrina Quintino, Barbara Gianesin, Riccardo Sasso, Andrea Diociasi, Francesca Mattioli, Roberta Marchese, Giovanni Abbruzzese, Antonio Castaldi, Gian Luca Forni

J Clin Med. 2022 Aug; 11(15): 4524. Published online 2022 Aug 3. doi: 10.3390/jcm11154524