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Scientific Publications

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.


MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION  Gregory A, Hartig M, Prokisch H, Kmiec T, Hogarth P, Hayflick,S. GeneReviews® [Internet]. (2014 February 27)

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.

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. Parkinsonism Relat Disord. (2013 Dec 10).

PHENOTYPES AND GENOTYPES OF PATIENTS WITH PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION IN ASIAN AND CAUCASIAN POPULATIONS: 2 CASES AND LITERATURE REVIEW.  Chih-Hong Lee, Chin-Song Lu, Wen-Li Chuang, Tu-Hsueh Yeh, Shih-Ming Jung, Chia-Ling Huang, Szu-Chia Lai ScientificWorldJournal. 2013; 2013: 860539. Published online (2013 November 19).

EYE-OF-THE-TIGER-SIGN IN A 48YEAR HEALTHY ADULT.  van den Bogaard SJ, Kruit MC, Dumas EM, Roos RA. J Neurol Sci. (2014 Jan). 15:336(1-2):254-6. doi: 10.1016/j.jns.2013.10.005. Epub (2013 Oct 9).

ALTERATIONS OF RED CELL MEMBRANE PROPERTIES IN NNEUROACANTHOCYTOSIS.  Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M. Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer. PLoS. One. 2013; 8(10): e76715. Published online. ( 2013 October 3).

A NEW IN VIVO MODEL OF PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION REVEALS A SURPRISING ROLE FOR TRANSCRIPTIONAL REGULATION IN PATHOGENESIS  Varun Pandey, Hagit Turm, Uriya Bekenstein, Sagiv Shifman, Sebastian Kadener. Front Cell Neurosci. 2013; 7: 146. Published online (2013 September 9).

A DELICATE BALANCE: IRON METABOLISM AND DISEASES OF THE BRAIN.  Dominic Hare, Scott Ayton, Ashley Bush, Peng Lei. Front Aging Neurosci. 2013; 5: 34. Published online (2013 July 18).

 

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?  Stamelou M, et.al. Mov Disord. (2013 Jun 4). 

 

Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia.LumsdenDE, et.al. Dev Med Child Neurol. (2013 Jun) 55(6):567-74.

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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Hayflick SJ, et.al.  Brain. (2013 Jun).136(Pt 6):1708-17.

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Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation.  Dziewulska D, et.al.  Acta Neuropathol. 2013 May 31.

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WDR45 MUTATIONS DEFINE A NOVEL DISEASE ENTITY-STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGNERATON IN ADULTHOOD. Aminkeng F.  Clin Genet. (2013 May 6).

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MRI, MR SPECTROSCOOPY, AND DIFFUSION TENSOR IMAGING FINDINGS IN PATIENT WITH STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD (SENDA).  Kimura Y, et.al. Brain Dev. (2013 May); 35(5):458-61.

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.  Saitsu H, et.al.  Nat Genet. (2013 Apr); 45(4):445-9, 449e1.
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Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). Schneider SA, Bhatia KP. J Neural Transm. (2013 Apr);120 (4):695-703.

 

Late onset atypical pantothenate-kinase-associated neurodegeneration.Diaz N. Case Rep Neurol Med. (2013);2013:860201.Free PMC Article.

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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.  Goldman JG, et.al.  Mov Disord. (2013 Mar 13).

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Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time.  Fermin-Delgado R, et.al.  Clin Neuroradiol. (2013 Mar);23(1):11-5.

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Neurodegeneration with Brain Iron Accumulation Disorders Overview.  Gregory A, Hayflick S. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. (2013 Feb 28).  

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PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.
  Dezfouli MA, et.al. Mov Disord. (2013 Feb);28(2):228-32.

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Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Schulte EC, et.al.  Mov Disord. (2013 Feb);28(2):224-7.

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Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.  Zhang P, et.al.  Eur J Neurol. (2013 Feb);20(2):322-30.

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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 January); 11(1): 59–79. Published online (2013 January).

 

Treatment of Classic Pantothenate Kinase-Associated Neurodegeneration with Deferiprone and Intrathecal Baclofen.

Pratini NR, Sweeters N, Vichinsky E, Neufeld JA. Am J Phys Med Rehabil. (2013 Jan 30).

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.  Hogarth P, et.al. Neurology. (2013 Jan 15);80(3):268-75.

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Late onset neurodegeneration with brain-iron accumulation presenting as parkinsonism.  Fekete R. Case Rep Neurol Med. (2012);2012:387095.

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Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.  Dogu O, et.al.  Clin Genet. (2012 Dec 20).

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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.  Haack TB, et.al.  Am J Hum Genet. (2012 Dec 7);91(6):1144-9.

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An international registry for neurodegeneration with brain iron accumulation.  Kalman B, et.al.  Orphanet J Rare Dis. (2012 Sep 17);7:66.

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Neurodegeneration with brain iron accumulation.  Dusek P, Schneider SA.  Curr Opin Neurol. (2012 Aug);25(4):499-506.

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The role of iron in neurodegeneration--Mössbauer spectroscopy, electron microscopy, enzyme-linked immunosorbent assay and neuroimaging studies.
  Galazka-Friedman Jet.al.  J Phys Condens Matter. (2012 Jun 20);24(24):244106.

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Neurodegeneration with brain iron accumulation: a diagnostic algorithm.  Kruer MC, Boddaert N.  Semin Pediatr Neurol. (2012 Jun);19(2):67-74.  Free PMC Article

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Therapeutic advances in neurodegeneration with brain iron accumulation. Zorzi G, et.al.  Semin Pediatr Neurol. (2012 Jun);19(2):82-6.

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C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.  Panteghini C, eeet.al.  Semin Pediatr Neurol. (2012 Jun);19(2):75-81. Erratum in: Semin Pediatr Neurol. (2013 Mar);20(1):56. Siegel, Brigitte [corrected to Siegel, Birgit].
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Syndromes of neurodegeneration with brain iron accumulation.

Schneider SA, Bhatia KP. Semin Pediatr Neurol. (2012 Jun); 19 (2):57-66.

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Brain, blood, and iron: perspectives on the roles of erythrocytes and iron neurodegeneration.  Prohaska R, et.al.  Neurobiol Dis. (2012 Jun);46(3):607-24.  Free PMC Article 

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IRONING OUT NEURODEGENERATION: IS IRON INTAKE IMPORTANT DURING THE TEENAGE YEARS?  Thompson PM, Jahanshad N. Expert Rev Neurother. 2012 Jun;12(6):629-31.  Free Article. 

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Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.  LimBC, et.al.  Eur J Neurol. (2012 Apr);19(4):556-61.

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PLA2G6-ASSOCIATED NEURODEGENERATION.  Gregory A, Kurian MA, Maher ER, et al. GeneReviews® [Internet]. (2008 Jun 19) [Updated 2012 Apr 19].

 

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).  Delgado RF, et.al.  J Magn Reson Imaging. (2012 Apr);35(4):788-94.

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Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
  Leoni V, Strittmatter Let.al.  Mol Genet Metab. (2012 Mar);105(3):463-71.  Free PMC Article

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Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging.  Schipper HM.  Biochim Biophys Acta. (2012 Mar);1822(3):350-60.

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Neurodegeneration with brain iron accumulation. McNeill A, Chinnery PF.  Handb Clin Neurol.(2011);100:161-72.

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Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome).  Haraguchi T, et.al.  Neuropathology. (2011 Oct);31(5):531-9.

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Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.  HartigMB, et.al.  Am J Hum Genet. (2011 Oct 7);89(4):543-50. Free PMC Article

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The "eye of the tiger" sign in pure akinesia with gait freezing. Erro R, et.al.  Neurol Sci. (2011 Aug);32(4):703-5.

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The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

Chiapparini L, et.al.  Neuropediatrics. (2011 Aug);42(4):159-62.

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Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial.  Zorzi G, et.al.  Mov Disord. (2011 Aug 1);26(9):1756-9.

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Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).
  Bower MA, et.al.  Mov Disord. (2011 Aug 1);26(9):1768-9.
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Genetics of neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.  Curr Neurol Neurosci Rep. (2011 Jun);11(3):254-61.

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Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).  Kurian MA, et.al.  Dev Med Child Neurol. (2011 May);53(5):394-404.

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Neurodegeneration with brain iron accumulation--late onset slowly progressive variant.  Patil PV, et.al.  J Assoc Physicians India. (2011 May);59:319-21.  Related citations

 

"Progressive delayed-onset postanoxic dystonia" diagnosed with PANK2 mutations 26 years after onset-an update.  Kojovic M, et.al. Mov Disord. (2010 Dec 15);25(16):2889-91.

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Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).  Kruer MC, et.al.  Ann Neurol. (2010 Nov);68(5):611-8.

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Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.  Engel LA, et.al.  PLoS One. (2010 Sep 23);5(9):e12897.  Free PMC Article

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Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: a video-polysomnographic study.
  Fantini ML, et.al.  Parkinsons Dis. (2010 Jun 29);2010:342834. Free PMC Article

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Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.  Aggarwal A, et.al. Mov Disord. (2010 Jul 30);25(10):1424-31.

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.  Schneider SA, et.al.  Mov Disord. (2010 Jun 15);25(8):979-84.

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Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.

Rana A, et.al.  Proc Natl Acad Sci U S A. (2010 Apr 13);107(15):6988-93.  Free PMC Article

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Clinicopathological variability in neurodegeneration with brain iron accumulation. Vincze A, Kapás I, Molnar MJ, Kovács GG. Ideggyogy Sz. (2010 Mar 30);63(3-4):129-35.

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation.  Gregory A, Polster BJ, Hayflick SJ.  J Med Genet. (2009 Feb;4) 6(2):73-80.    Free PMC Article

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Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.  Mikati MA, et.al.  Eur J Paediatr Neurol. (2009 Jan);13(1):61-4. Related citations

 

Neurodegeneration associated with genetic defects in phospholipase A(2).  Gregory A, et.al.  Neurology. (2008 Oct 28);71(18):1402-9.  Free PMC Article

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T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.  McNeill A, et.al. Neurology. (2008 Apr 29);70(18):1614-9.  Free PMC Article
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Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation Skidmore FM, Drago et.al.  J Neurol Neurosurg Psychiatry. (2008 Apr);79(4):467-70.

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Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.  ChanKY, et.al. Hong Kong Med J. (2008 Feb);14(1):70-3.  Free Article
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Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. Malik I, et.al.  Am J Pathol. (2008 Feb);172(2):406-16. doi: 10.2353/ajpath.2008.070823. Epub 2008 Jan 17.Free PMC Article
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HUNTINGTON'S DISEASE PHENOCOPIES ARE CLINICALLY AND GENETICALLY HETEROGENEOUS Wild EJ,et.al. Mov Disord. (Jan 7, 2008).

EXPRESSION OF A MUTANT FORM OF THE FERRITIN LIGHT CHAIN GENE INDUCES NEURODEGENERATION AND IRON OVERLOAD IN TRANSGENIC MICE. www.ncbi.nlm.nih.gov/pubmed/18171923 Vidal R, et.al. Journal of Neuroscience. (Jan 2, 2008; 28(1)). Pp. 60-7.

MICROGLIA AND ASTROGLIA PREVENT OXIDATIVE STRESS-INDUCED NEURONAL CELL DEATH: IMPLICATIONS FOR ACERULOPLASMINEMIA. www.ncbi.nlm.nih.gov/pubmed/18187051 Oshiro S, et.al. Biochim Biophys Acta. (Dec 15, 2007).

PREVENTION AND RESTORATION OF LACTACYSTIN-INDUCED NIGROSTRIATAL DOPAMINE NEURON DEGENERATION BY NOVEL BRAIN-PERMEABLE IRON CHELATORS. www.ncbi.nlm.nih.gov/pubmed/17690154 Zhu W, et.al. FASEB J. (Dec 2007; 21(14)). Pp.3835-44.

PALLIDAL STIMULATION FOR DYSTONIA IN PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/18021929 Shields DC, et.al. Pediatric Neurology. (Dec 2007; 37(6)). Pp. 442-5. 

CYS-881 IS ESSENTIAL FOR THE TRAFFICKING AND SECRETION OF TRUNCATED MUTANT CERULOPLASMIN IN ACERULOPLASMINEMIA. www.ncbi.nlm.nih.gov/pubmed/17637479 Kono S, et.al. J Hepatol. (Dec 2007; 47(6)). Pp. 844-50. Epub (Jun 18, 2007).  

ANTICHOLINERGIC-RESPONSIVE GAIT FREEZING IN A PATIENT WITH PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/1799942 Lyoo CH, et.al. Movement Disorders. (Nov 12, 2007). 

A NOVEL PANK2 GENE MUTATION: CLINICAL AND MOLECULAR CHARACTERISTICS OF PATIENTS SHORT COMMUNICATION. www.researchgate.net/.../5840021 Kazek B, et.al Journal of Childhood Neurology. (Nov 2007; 22(11)). Pp.1256-9. 

IRON HOMEOSTASIS AND TOXICITY IN RETINAL DEGENERATION. www.ncbi.nlm.nih.gov/pubmed/17921041 He X, et.al. Prog Retin Eye Res. (Nov 2007; 26(6)). Pp. 649-73.

ACERULOPLASMINEMIA WITH PROGRESSIVE ATROPHY WITHOUT BRAIN IRON OVERLOAD: TREATMENT WITH ORAL CHELATION. www.ncbi.nlm.nih.gov/pubmed/17911185 Skidmore FM, et.al. Journal of Neurological Neurosurgy Psychiatry. (Oct 2, 2007).

IRON TOXICITY AS A POTENTIAL FACTOR IN AMD. www.ncbi.nlm.nih.gov/pubmed/18040235 Wong RW, et.al. Retina. (Oct 2007; 27(8)). Pp. 997-1003. 

NEUROPATHOLOGY, BIOCHEMISTRY, AND BIOPHYSICS OF ALPHA-SYNUCLEIN AGGREGATION. www.ncbi.nlm.nih.gov/pubmed/17623039 Uversky VN. Journal of Neurochemistry. (Oct 2007; 103(1)). Pp. 17-37. Epub (Jul 10, 2007). 

NOVEL MUTATION IN THE PANK2 GENE LEADS TO PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION IN A PAKISTANI FAMILY.

www.ncbi.nlm.nih.gov/pubmed/17903678 Saleheen D, et.al. Pediatric Neurology. (Oct 2007; 37(4)). Pp. 296-8. 

PATHOLOGY OF HEPATIC IRON OVERLOAD. www.ncbi.nlm.nih.gov/pubmed/16315133‎ Deugnier Y, Turlin B. World J Gastroenterol. (Sep 21, 2007; 13(35)). Pp. 4755-60.

NEURORESCUE ACTIVITY, APP REGULATION AND AMYLOID-BETA PEPTIDE REDUCTION BY NOVEL MULTI-FUNCTIONAL BRAIN PERMEABLE IRON- CHELATING- ANTIOXIDANTS, M-30 AND GREEN TEA POLYPHENOL, EGCG. www.ncbi.nlm.nih.gov/pubmed/17908043 Avramovich-Tirosh Y, et.al. Current Alzheimer Res. (Sep 2007; 4(4)). Pp. 403-11.

THE HUNTINGTON'S DISEASE-LIKE SYNDROMES: WHAT TO CONSIDER IN PATIENTS WITH A   HUNTINGTON'S DISEASE GENE TEST. www.ncbi.nlm.nih.gov/pubmed/17805246 Schneider SA, et.al. National Clinical Practice in Neurology. (Sep 2007; 3(9)). Pp. 517-25.

IDENTIFICATION AND IN SILICO CHARACTERIZATION OF A NOVEL COMPOUND HETEROZYGOSITY ASSOCIATED WITH HEREDITARY ACERULOPLASMINEMIA. www.ncbi.nlm.nih.gov/pubmed/17710675 Hofmann WP, et.al. Scand J Gastroenterology. (Sep 2007;42(9)). Pp. 1088-94.

HOMEOSTATIC MECHANISMS FOR IRON STORAGE REVEALED BY GENETIC MANIPULATIONS AND LIVE IMAGING OF DROSOPHILA FERRITIN. www.ncbi.nlm.nih.gov/pubmed/HYPERLINK "http://www.ncbi.nlm.nih.gov/pubmed/17603097"17603097   Missirlis F, et.al. Genetics. (Sep 2007; 177(1)). Pp. 89-100. Epub (Jul 1, 2007).

ESTABLISHING A BASELINE PHASE BEHAVIOR IN MAGNETIC RESONANCE IMAGING TO DETERMINE NORMAL VS. ABNORMAL IRON CONTENT IN THE BRAIN. www.ncbi.nlm.nih.gov/pubmed/17654738 Haacke EM, et.al. Journal of Magnetic Resonate Imaging. (Aug 26, 2007 (2)). Pp. 256-64.

SURGERY FOR OTHER MOVEMENT DISORDERS: DYSTONIA, TICS.  www.ncbi.nlm.nih.gov/pubmed/17620884 Curr Opin Neurol. Hamani C & Moro E. (Aug 2007; 20(4)). Pp. 470-6. 

THE REDOX CHEMISTRY OF THE ALZHEIMER'S DISEASE AMYLOID BETA PEPTIDE.
www.ncbi.nlm.nih.gov/pubmed/17433250 Smith DG, et.al. Biochim Biophys Acta. (Aug 2007; 1768(8)). Pp. 1976-90. Epub (Feb 9, 2007). 

FERRITIN IN AUTOIMMUNE DISEASES. AUTOIMMUN REV. www.ncbi.nlm.nih.gov/pubmed/17643933‎ Zandman-Goddard G, Shoenfeld Y. (Aug 2007; 6(7)). Pp. 457-63. Epub (Feb 16, 2007).

TREATMENT OF SYMPTOMATIC HETEROZYGOUS ACERULOPLASMINEMIA WITH ORAL ZINC SULPHATE. www.ncbi.nlm.nih.gov/pubmed/17307325 Kuhn J, Bewermeyer H, Miyajima H, Takahashi Y, Kuhn KF, Hoogenraad TU. Brain Dev. (Aug 2007; 29(7)). Pp.450-3. Epub (Feb 20, 2007).

FERROXIDASE ACTIVITY IS REQUIRED FOR THE STABILITY OF CELL SURFACE FERROPORTIN IN CELLS EXPRESSING GPI-CERULOPLASMIN. www.ncbi.nlm.nih.gov/pubmed/17541408 ‎De Domenico I, et.al. EMBO J. (Jun 20, 2007; 26(12)). Pp. 2823-31. Epub (May 31, 2007).

DEPRIVATION OF PANTOTHENIC ACID ELICITS A MOVEMENT DISORDER AND AZOOSPERMIA IN A MOUSE MODEL OF PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/17429753 Kuo YM, et.al. Journal of Inherit Metabolism Discovery. (Jun 2007; (30)(3)). Pp. 310-7. Epub (Apr 12, 2007).

INTELLECTUAL AND ADAPTIVE BEHAVIOUR FUNCTIONING IN PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/17493025 Freeman K, et.al. Journal of Intellectual Disability Research. (Jun 2007; 51(Pt. 6)). Pp. 417-26.

MANAGEMENT OF STATUS DYSTONICUS: OUR EXPERIENCE AND REVIEW OF THE LITERATURE.     www.ncbi.nlm.nih.gov/pubmed/17427939 Mariotti P, et.al. Movement Disorders. (May 15, 2007; 22(7)). Pp. 963-8.

FERROPORTIN1 AND HEPHAESTIN ARE INVOLVED IN THE NIGRAL IRON ACCUMULATION OF 6-OHDA-LESIONED RATS. www.ncbi.nlm.nih.gov/pubmed/17561842 Wang J, et.al. European Journal of Neuroscience. (May 2007; 25(9)). Pp. 2766-72.

CEREBELLAR ATROPHY WITHOUT CEREBELLAR CORTEX HYPERINTENSITY IN INFANTILE NEUROAXONAL DYSTROPHY (INAD) DUE TO PLA2G6 MUTATION. www.ncbi.nlm.nih.gov/pubmed/17254819 Biancheri R, et.al. Eur J Paediatr Neurol. (May 2007; 11(3)). Pp. 175-7. Epub (Jan 24, 2007). 

DIFFERENTIAL CEREBRAL CORTEX TRANSCRIPTOMES OF BABOON NEONATES CONSUMING MODERATE AND HIGH DOCOSAHEXAENOIC ACID FORMULAS. www.plosone.org/.../info%3Adoi%2F10.1371%2Fjournal.pone.0000370 Kothapalli KS, et.al. PLoS ONE. (Apr 11, 2007; 2(4)). Pp. e370. 

RELAXATION AND SUSCEPTIBILITY MRI CHARACTERISTICS IN HALLERVORDEN-SPATZ SYNDROME. www.ncbi.nlm.nih.gov/pubmed/17352378‎ Vinod Desai S, et.al. Journal of Magnetic Resonate Imaging. (Apr 2007; 25(4)). Pp.715-20. 

BRAIN FERRITIN IRON MAY INFLUENCE AGE- AND GENDER-RELATED RISKS OF
NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/16563566 Bartzokis G, et.al. Neurobiological Aging. (Mar 2007; 28(3)). Pp. 414-23. Epub (Mar 24, 2006).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION: CLINICAL, RADIOGRAPHIC AND GENETIC HETEROGENEITY AND CORRESPONDING THERAPEUTIC OPTIONS.   www.ncbi.nlm.nih.gov/pubmed/17569231 Clement F, et.al. Acta Neurol Belg. (Mar 2007;107(1)). Pp. 26-31.

ADULT-ONSET NEURODEGENERATION WITH BRAIN IRON ACCUMULATION AND CORTICALALPHA-SYNUCLEIN AND TAU PATHOLOGY: A DISTINCT CLINICOPATHOLOGICAL ENTITY. www.ncbi.nlm.nih.gov/pubmed/17296847 Tofaris Gk, et.al. Arch Neurology. (Feb 2007 (2)). Pp. 280-2.

MOVEMENT DISORDER DUE TO ACERULOPLASMINEMIA AND INCORRECT
DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS www.ncbi.nlm.nih.gov/pubmed/17508145 Fasano A, et.al. J Neurol. (Jan 2007; 254(1)).Pp.113-4. Epub (Feb 14, 2007). 

CLINICAL SIGNIFICANCE OF THE LABORATORY DETERMINATION OF LOW SERUM COPPER IN ADULTS. www.ncbi.nlm.nih.gov/pubmed/17727313 Kumar N, et.al. Clin Chem Lab Med. (2007; 45(10)). Pp.1402-0.

ANALYSIS OF FERRITIN GENES IN PARKINSON DISEASE. www.ncbi.nlm.nih.gov/pubmed/17970701 Foglieni B, et.al. Clin Chem Lab Med. (2007;45(11)). Pp. 1450-6.

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EXCLUSION OF MUTATIONS IN THE PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 AND FTL GENES AS A CAUSE OF DISEASE IN PORTUGUESE PATIENTS WITH A HUNTINGTON-LIKE PHENOTYPE. www.ncbi.nlm.nih.gov/pubmed/HYPERLINK "http://www.ncbi.nlm.nih.gov/pubmed/16858508"16858508 Costa Mdo C, et.al. J Hum Genet. (2006; 51(8)). Pp. 645-51. Epub (Jul 21, 2006).

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DEFICIENCY OF PANTOTHENATE KINASE 2 (PANK2) IN MICE LEADS TO RETINAL DEGENERATION AND AZOOSPERMIA. www.ncbi.nlm.nih.gov/pubmed/15525657 Kuo YM, et.al. Hum Mol Genet. (Jan 1, 2005; 14(1)). Pp.49-57. Epub (Nov 3).

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NEUROPROTECTION BY A NOVEL BRAIN PERMEABLE IRON CHELATOR, VK-28, AGAINST 6-HYDROXYDOPAMINE LESSION IN RATS. www.ncbi.nlm.nih.gov/pubmed/14680763‎ Shachar DB, et.al. Neuropharmacology. (Feb 2004; 46(2)). Pp. 254-63. 

CLINICAL HETEROGENEITY OF NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (HALLERVORDEN-SPATZ SYNDROME) AND PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION. www.ncbi.nlm.nih.gov/pubmed/14743358 Thomas M, et. al. Movement Disorders. (Jan 2004; 19(1)). Pp. 36-42.

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ELEVATED LEVELS OF FERRIMAGNETIC METALS IN FOODCHAINS SUPPORTING THE GUAM CLUSTER OF NEURODEGENERATION: DO METAL NUCLEATED CRYSTAL CONTAMINANTS [CORRECTED] EVOKE MAGNETIC FIELDS THAT INITIATE THE PROGRESSIVE PATHOGENESIS OF NEURODEGENERATION? www.ncbi.nlm.nih.gov/pubmed/15488650 Purdey M. Medical Hypotheses. (2004; 63(5)) Pp.793-809. Erratum in: Med Hypotheses (2005; 65(6)). Pp. 1207.

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DOPAMINERGIC CELL DEATH PRECEDES IRON ELEVATION IN MPTP-INJECTED MONKEYS. www.ncbi.nlm.nih.gov/pubmed/12927603 He Y, Thong PS, et. al. Free Radical Biological Medicine. (Sep 1, 2003;35(5)). Pp. 540-7.

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EYE-OF-THE-TIGER SIGN. HTTP://radiology.rsna.org/content/217/3/895.long Sethi NK & Sethi PK. J Assoc Physicians India. (May 2003; 51). Pp. 486. 

NEUROFERRITINOPATHY IN A FRENCH FAMILY WITH LATE ONSET DOMINANT DYSTONIA. http://jmg.bmj.com/content/40/5/e69.full Chinnery PF, et.al. J Med Genet. (May 2003; 40(5)). Pp. e69.

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CHILDHOOD DYSTONIA. www.ncbi.nlm.nih.gov/pubmed/12785748‎ Uc EY & Rodnitzky RL. Seminar Pediatric Neurology. (Mar 2003; 10(1)). Pp. 52-61. 

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WHAT HAVE WE LEARNT FROM CDNA MICROARRAY GENE EXPRESSION STUDIES ABOUT THE ROLE OF IRON IN MPTP INDUCED NEURODEGENERATION AND PARKINSON'S DISEASE? http://ink.springer.com/content/pdf/10.1007/978-3-7091-0643-3_5.pdf Youdim MB. Journal of Neural Transmission Suppl. (2003; (65)). Pp. 73-88. Review.

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