This list has been compiled from several different sources for easy reference on articles concerning NBIA disorders, or other topics relevant to understanding these disorders. They are listed in chronological order, most recent first. If you wish copies of any articles, some can be found free online and some you can read an abstract of the article and the full article can be ordered online for a fee. Most can be found at university medical libraries where you live.
Please Note: If you are looking for articles written before 2003, try a Pub Med Query at http://www.ncbi.nlm.nih.gov. This is also a good site to go to for any additional information or queries for journal articles on other related topics. The Related Citations links below will also give you additional literature on NBIA disorders and related topics.
A DE NOVO C19ORF12 HETEROZYGOUS MUTATION IN A PATIENT WITH MPAN.
Monfrini E, Melzi V, Buongarzone G, Franco G, Ronchi D, Dilena R, Scola E, Vizziello P, Bordoni A, Bresolin N, Comi GP, Corti S, Di Fonzo A.
Parkinsonism Relat Disord. 2017 Dec 27. pii: S1353-8020(17)30863-5. doi: 10.1016/j.parkreldis.2017.12.025. [Epub ahead of print] No abstract available.
PMID: 29295770
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SEVERE INFANTILE ONSET DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY CAUSED BY MUTATIONS IN AUTOPHAGY GENE WDR45.
Carvill GL1, Liu A2, Mandelstam S3,4, Schneider A5, Lacroix A6, Zemel M6, McMahon JM5, Bello-Espinosa L7, Mackay M4, Wallace G8, Waak M8, Zhang J2, Yang X2, Malone S8, Zhang YH2, Mefford HC6, Scheffer IE3,4,5,9. Epilepsia. 2018 Jan;59(1):e5-e13. doi: 10.1111/epi.13957. Epub 2017 Nov 24.
ACETYL-4′-PHOSPHOPANTETHEINE IS STABLE IN SERUM AND PREVENTS PHENOTYPES INDUCED BY PANTOTHENATE KINASE DEFICIENCY.
Ivano Di Meo, Cristina Colombelli, Balaji Srinivasan, Marianne de Villiers, Je rey Hamada, Suh Y. Jeong, Rachel Fox, Randall L. Woltjer, Pieter G. Tepper, Liza L. Lahaye, Emanuela Rizzetto, Clara H. Harrs, Theo de Boer, Marianne van der Zwaag, Branko Jenko, Alen Čusak, Jerca Pahor, Gregor Kosec, Nicola A. Grzeschik, Susan J. Hayfick, Valeria Tiranti & Ody C. M. Sibon.
SCIENTIFIC REPORTS | Sep 12, 2017: 11260DOI10.1038s41598-017
-11564.
IPSC-DERIVED NEURONAL MODELS OF PANK2-ASSOCIATED NEURODEGENERATION REVEAL MITOCHONDRIAL DYSFUNCTION CONTRIBUTING TO EARLY DISEASE.NEURODEGENERATION REVEAL MITOCHONDRIAL DYSFUNCTION CONTRIBUTING TO EARLY DISEASE.
Charles Arber , Plamena R. Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P. Bhatia, Kevin Mills, Ivan Gout, Andrey Y. Abramov, John Hardy, James A. Duce, Henry Houlden, Selina Wray. Published: September 1, 2017 https://doi.org/10.1371/journal.pone.0184104
NOVEL MUTATIONS IN PANK2 AND PLA2G6 GENES IN PATIENTS WITH NEURODEGENERATIVE DISORDERS: TWO CASE REPORTS.
Dastsooz H1, Nemati H2, Fard MAF3, Fardaei M1,3, Faghihi MA4. BMC Med Genet. 2017 Aug 18;18(1):87. doi: 10.1186/s12881-017-0439-y.
A CASE OF BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION DUE TO A HETEROZYGOUS DELETION OF WDR45.
Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB. Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017. PMID: 29082105 Free PMC Article
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EARLY MANIFESTATIONS OF EPILEPTIC ENCEPHALOPATHY, BRAIN ATROPHY, AND ELEVATION OF SERUM NEURON SPECIFIC ENOLASE IN A BOY WITH BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION.
Takano K1, Goto K2, Motobayashi M3, Wakui K4, Kawamura R4, Yamaguchi T4, Fukushima Y4, Kosho T4. Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12.
CLINICAL AND IMAGING PRESENTATION OF A PATIENT WITH BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION, A RARE AND SPORADIC FORM OF NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA).
Hattingen E1, Handke N2, Cremer K3, Hoffjan S4, Kukuk GM2. Clin Neuroradiol. 2017 Dec;27(4):481-483. doi: 10.1007/s00062-017-0605-9. Epub 2017 Jun 22.
A 30-YEAR HISTORY OF MPAN CASE FROM RUSSIA.
Selikhova M, Fedotova E, Wiethoff S, Schottlaender LV, Klyushnikov S, Illarioshkin SN, Houlden H. Clin Neurol Neurosurg. 2017 Aug;159:111-113. doi: 10.1016/j.clineuro.2017.05.025. Epub 2017 Jun 2. PMID: 28641177
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EVOLUTION AND NOVEL RADIOLOGICAL CHANGES OF NEURODEGENERATION ASSOCIATED WITH MUTATIONS IN C19ORF12.
Skowronska M, Kmiec T, Jurkiewicz E, Malczyk K, Kurkowska-Jastrzębska I, Czlonkowska A. Parkinsonism Relat Disord. 2017 Jun;39:71-76. doi: 10.1016/j.parkreldis.2017.03.013. Epub 2017 Mar 21.
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THE P.THR11MET MUTATION IN C19ORF12 IS FREQUENT AMONG ADULT TURKISH PATIENTS WITH MPAN.
Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V.
Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.
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INCREASED THROMBOSPONDIN-4 AFTER NERVE INJURY MEDIATES DISRUPTION OF INTRACELLULAR CALCIUM SIGNALING IN PRIMARY SENSORY NEURONS.
Guo Y1, Zhang Z1, Wu HE1, Luo ZD2, Hogan QH1, Pan B3. Neuropharmacology. 2017 May 1;117:292-304. doi: 10.1016/j.neuropharm.2017.02.019. Epub 2017 Feb 22.
NOVEL WDR45 MUTATION CAUSING BETA-PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION (BPAN) IN TWO MONOZYGOTIC TWINS.
Araújo R1, Garabal A2, Baptista M3, Carvalho S3, Pinho C4, de Sá J2, Vasconcelos M5. PMID: 28361255 DOI: 10.1007/s00415-017-8475-2 J Neurol. 2017 May;264(5):1020-1022. doi: 10.1007/s00415-017-8475-2. Epub 2017 Mar 30.
TRANSCRANIAL SONOGRAPHY IN MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION.
Skowronska M, Kmiec T, Czlonkowska A, Kurkowska-Jastrzębska I. Clin Neuroradiol. 2017 Mar 28. doi: 10.1007/s00062-017-0577-9. [Epub ahead of print] PMID: 28352978
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FERROUS IRON UP-REGULATION IN FIBROBLASTS OF PATIENTS WITH BETA PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION (BPAN).
Ingrassia R1, Memo M1, Garavaglia B2. Front Genet. 2017 Feb 17;8:18. doi: 10.3389/fgene.2017.00018. eCollection 2017.
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION
Gregory A1, Kurian MA2, Haack T3, Hayflick SJ1, Hogarth P1.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2017 Feb 16.
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A NOVEL DELETION MUTATION OF EXON 2 OF THE C19ORF12 GENE IN AN OMANI FAMILY WITH MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION (MPAN).
Al Macki N, Al Rashdi I. Oman Med J. 2017 Jan;32(1):66-68. doi: 10.5001/omj.2017.12.
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COENZYME A CORRECTS PATHOLOGICAL DEFECTS IN HUMAN NEURONS OF ...PANK2-ASSOCIATED NEURODEGENERATION.
Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi EMBO Mol Med. 2016 Oct; 8(10): 1197–1211.
PSYCHOTIC DISORDER IN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION.
Yazar MS, Fistikci N, Balaban OD, Eradamlar N, Alpkan L.
Clin Schizophr Relat Psychoses. Fall 2016;10(3):178-180. No abstract available.
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DIFFERENCES IN GLOBUS PALLIDUS NEURONAL FIRING RATES AND PATTERNS RELATE TO DIFFERENT DISEASE BIOLOGY IN CHILDREN WITH DYSTONIA
McClelland VM, Valentin A, Rey HG, Lumsden DE, Elze MC, Selway R, Alarcon G, Lin JP.
J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):958-67. doi: 10.1136/jnnp-2015-311803.
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A DIAGNOSTIC APPROACH FOR NEURODEGENERATION WITH BRAIN IRONACCUMULATION: CLINICAL FEATURES, GENETICS AND BRAIN IMAGING.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG. Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Review.
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IRON ACCUMULATION AND NEURODEGENERATIVE DISEASES
Yoshida K.
Nihon Rinsho. 2016 Jul;74(7):1161-7. Japanese.
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DE NOVO MUTATIONS IN THE AUTOPHAGY GENE WDR45 CAUSE SENDA/BPAN
Muramatsu K.
No To Hattatsu. 2016 May;48(3):177-83. Review. Japanese. No abstract available.
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A WOMAN WITH BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION IDENTIFIED BY THE WDR45 MUTATION PRESENTING AS RETT-LIKE SYNDROME IN CHILDHOOD
Morisada N, Tsuneishi S, Taguchi K, Yagi R, Nishiyama M, Toyoshima D, Nakagawa T, Takeshima Y, Takada S, Iijima K.
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BETA PROPELLAR PROTEIN-ASSOCIATED NEURODEGENERATION: A RARE CAUSE OF INFANTILE AUTISTIC REGRESSION AND INTRACRANIAL CALCIFICATION
Yoganathan S, Arunachal G, Sudhakar SV, Rajaraman V, Thomas M, Danda S.
Neuropediatrics. 2016 Apr;47(2):123-7. doi: 10.1055/s-0035-1571189.
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EARLY-ONSET EPILEPTIC ENCEPHALOPATHY AS THE INITIAL CLINICAL PRESENTATION OF WDR45 DELETION IN A MALE PATIENT
Abidi A, Mignon-Ravix C, Cacciagli P, Girard N, Milh M, Villard L.
Eur J Hum Genet. 2016 Apr;24(4):615-8. doi: 10.1038/ejhg.2015.159.
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IRON CHELATION IN THE TREATMENT OF NEURODEGENERATIVE DISEASES
Dusek P. Schneider SA(2), Aaseth J
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Ideggyogy Sz. 2016 Mar 30;69(5-6):157-66. Review. Hungarian.
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Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
Am J Med Genet A. 2016 Feb;170A(2):322-8. doi: 10.1002/ajmg.a.37432. Review.
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GABAPENTIN CAN SIGNIFICANTLY IMPROVE DYSTONIA SEVERITY AND QUALITY OF LIFE IN CHILDREN
Liow NY, Gimeno H, Lumsden DE, Marianczak J, Kaminska M, Tomlin S, Lin JP.
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Schneider SA.
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IDENTIFICATION OF MUTATION IN GTPBP2 IN PATIENTS OF A FAMILY WITH NEURODEGENERATION ACCOMPANIED BY IRON DEPOSITION IN THE BRAIN.
Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, KaramiNejadRanjbar M, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E. Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. doi: 10.1016/j.neurobiolaging.2015.10.034. Epub 2015 Nov 6.
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VOXEL-BASED ANALYSIS IN NEUROFERRITINOPATHY EXPANDS THE PHENOTYPE AND DETERMINES RADIOLOGICAL CORRELATES OF DISEASE SEVERITY
Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM.
J Neurol. 2015 Oct;262(10):2232-40. doi: 10.1007/s00415-015-7832-2.
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REVIEW: INSIGHTS INTO MOLECULAR MECHANISMS OF DISEASE IN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION: UNIFYING THEORIES.
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NOVEL WDR45 MUTATION AND PATHOGNOMONIC BPAN IMAGING IN A YOUNG FEMALE WITH MILD COGNITIVE DELAY
Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S.
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EYE OF THE TIGER SIGN IN A 23 YEAR PATIENT WITH MITOCHONDRIAL MEMBRANE PROTEIN ASSOCIATED NEURODEGENERATION
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Nishioka K, Oyama G, Yoshino H, Li Y, Matsushima T, Takeuchi C, Mochizuki Y, Mori-Yoshimura M, Murata M, Yamasita C, Nakamura N, Konishi Y, Ohi K, Ichikawa K, Terada T, Obi T, Funayama M, Saiki S, Hattori N.
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Zhao YG, Sun L, Miao G, Ji C, Zhao H, Sun H, Miao L, Yoshii SR, Mizushima N, Wang X, Zhang H.
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Lopez WO, Kluge Schroeder H, Santana Neville I, Jacobsen Teixeira M, Costa Barbosa D, Assumpçao de Mônaco B, Talamoni Fonoff E.
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EARLY MANIFESTATIONS OF BPAN IN A PEDIATRIC PATIENT
Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I.
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NEURODEGENERATION WITH BRAIN IRON ACCUMULATION DISORDER MIMICS AUTISM
Veeravigrom M, Desudchit T, Chomtho K, Pongpunlert W.
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BASAL GANGLIA CALCIFICATION IN A PATIENT WITH BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION
Van Goethem G, Livingston JH, Warren D, Oojageer AJ, Rice GI, Crow YJ.
Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017.
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A NOVEL WDR45 MUTATION IN A PATIENT WITH STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD (SENDA)
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Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C.
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Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M.
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OPHTHALMIC FEATURES OF PLA2G6RELATED PAEDIATRIC NEURODEGENERATION WITH BRAIN IRON ACCUMULATION. Khan AO,AIDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA. Br J Ophthalmol. (2014 Jul;98) (7):889-93.
NOVEL HOMOZYGOUS PANK2 MUTATION CAUSING ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PKAN) IN A CYPRIOT FAMILY
Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA.
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In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Feb 28 [updated 2014 Apr 24].
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BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION (BPAN), A RARE FORM OF NBIA: NOVEL MUTATIONS AND NEUROPSYCHIATRIC PHENOTYPE IN THREE ADULT PATIENTS
Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP.
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NOVEL HOMOZYGOUS PANK2 MUTATION CAUSING ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PKAN) IN A CYPRIOT FAMILY. Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA. J Neurol Sci. (2014 May 15;) 340(1-2):233-6. doi: 10.1016/j.jns.2014.03.001. Epub (2014 Mar 11).
MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION Gregory A, Hartig M, Prokisch H, Kmiec T, Hogarth P, Hayflick,S. GeneReviews® [Internet]. (2014 February 27)
A NEW FORM OF HEREDITARY NEURODEGENERATION WITH BRAIN IRON ACCUMULATION: CLINICAL AND MOLECULAR-GENETIC CHARACTERISTICS
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EXOME SEQUENCE REVEALS MUTATIONS IN COA SYNTHASE AS A CAUSE OF NEURODEGENERATION WITH BRAIN IRON ACCUMULATION. Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Am J Hum Genet. (2014 Jan 2).
PANTETHINE TREATMENT IS EFFECTIVE IN RECOVERING THE DISEASE PHENOTYPE INDUCED BY KETOGENIC DIET IN A PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION MOUSE MODEL. Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody Sibon, Maurizio Moggio, Giulia d’Amati and Valeria Tiranti. Brain (2014, Jan 1); Pp. 57-68.
THERAPEUTIC ADVANCES IN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION. Zorzi G, Nardocci N. Int Rev Neurobiol. 2013;110:153-64. doi: 10.1016/B978-0-12-410502-7.00008-9. Review.
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