These are the sources and citations used to research Neurodegeneration with brain iron accumulation. This bibliography was generated on Cite This For Me on

  • Journal

    Abdel Razek, A., Kandell, A., Elsorogy, L., Elmongy, A. and Basett, A.

    Disorders of Cortical Formation: MR Imaging Features

    2008 - American Journal of Neuroradiology

    In-text: (Abdel Razek et al., 2008)

    Your Bibliography: Abdel Razek, A., Kandell, A., Elsorogy, L., Elmongy, A. and Basett, A. (2008). Disorders of Cortical Formation: MR Imaging Features. American Journal of Neuroradiology, 30(1), pp.4-11.

  • Journal

    Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B. and Alkuraya, F. S.

    Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

    2008 - The American Journal of Human Genetics

    In-text: (Alazami et al., 2008)

    Your Bibliography: Alazami, A., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K., Schneider, S., Sakati, N., Walsh, C., Al-Mohanna, F., Meyer, B. and Alkuraya, F. (2008). Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome. The American Journal of Human Genetics, 83(6), pp.684-691.

  • Journal

    Alazami, A., Schneider, S., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., De Kerdanet, M., Nezarati, M., Bhatia, K., Degos, B., Goh, E. and Alkuraya, F.

    C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

    2010 - Clinical Genetics

    In-text: (Alazami et al., 2010)

    Your Bibliography: Alazami, A., Schneider, S., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., De Kerdanet, M., Nezarati, M., Bhatia, K., Degos, B., Goh, E. and Alkuraya, F. (2010). C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78(6), pp.585-590.

  • Journal

    Aminkeng, F.

    WDR45 mutations define a novel disease entity-Static Encephalopathy of Childhood with Neurodegeneration in Adulthood

    2013 - Clinical Genetics

    In-text: (Aminkeng, 2013)

    Your Bibliography: Aminkeng, F. (2013). WDR45 mutations define a novel disease entity-Static Encephalopathy of Childhood with Neurodegeneration in Adulthood. Clinical Genetics, 84(3), pp.209-209.

  • Journal

    Behrens, M. I., Brüggemann, N., Chana, P., Venegas, P., Kägi, M., Parrao, T., Orellana, P., Garrido, C., Rojas, C. V., Hauke, J., Hahnen, E., González, R., Seleme, N., Fernández, V., Schmidt, A., Binkofski, F., Kömpf, D., Kubisch, C., Hagenah, J., Klein, C. and Ramirez, A.

    Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

    2010 - Movement Disorders

    In-text: (Behrens et al., 2010)

    Your Bibliography: Behrens, M., Brüggemann, N., Chana, P., Venegas, P., Kägi, M., Parrao, T., Orellana, P., Garrido, C., Rojas, C., Hauke, J., Hahnen, E., González, R., Seleme, N., Fernández, V., Schmidt, A., Binkofski, F., Kömpf, D., Kubisch, C., Hagenah, J., Klein, C. and Ramirez, A. (2010). Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Movement Disorders, 25(12), pp.1929-1937.

  • Journal

    Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D. and Burn, J.

    Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

    2006 - Brain

    In-text: (Chinnery et al., 2006)

    Your Bibliography: Chinnery, P., Crompton, D., Birchall, D., Jackson, M., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J., Cooper, P., Kellett, M., Bates, D. and Burn, J. (2006). Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain, 130(1), pp.110-119.

  • Journal

    Colombelli, C., Aoun, M. and Tiranti, V.

    Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

    2014 - Journal of Inherited Metabolic Disease

    In-text: (Colombelli, Aoun and Tiranti, 2014)

    Your Bibliography: Colombelli, C., Aoun, M. and Tiranti, V. (2014). Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron. Journal of Inherited Metabolic Disease, 38(1), pp.123-136.

  • Journal

    Cremonesi, L.

    Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

    2004 - Journal of Medical Genetics

    In-text: (Cremonesi, 2004)

    Your Bibliography: Cremonesi, L. (2004). Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. Journal of Medical Genetics, 41(6), pp.e81-e81.

  • Journal

    Cremonesi, L.

    Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

    2004 - Journal of Medical Genetics

    In-text: (Cremonesi, 2004)

    Your Bibliography: Cremonesi, L. (2004). Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. Journal of Medical Genetics, 41(6), pp.e81-e81.

  • Journal

    Crompton, D. E., Chinnery, P. F., Bates, D., Walls, T. J., Jackson, M. J., Curtis, A. J. and Burn, J.

    Spectrum of movement disorders in neuroferritinopathy

    2005 - Movement Disorders

    In-text: (Crompton et al., 2005)

    Your Bibliography: Crompton, D., Chinnery, P., Bates, D., Walls, T., Jackson, M., Curtis, A. and Burn, J. (2005). Spectrum of movement disorders in neuroferritinopathy. Movement Disorders, 20(1), pp.95-99.

  • Website

    Disorders, O.

    Overview of NBIA Disorders - NBIA Disorders Association

    2015

    In-text: (Disorders, 2015)

    Your Bibliography: Disorders, O. (2015). Overview of NBIA Disorders - NBIA Disorders Association. [online] Nbiadisorders.org. Available at: http://www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders [Accessed 22 Feb. 2015].

  • Journal

    Dusi, S., Valletta, L., Haack, T., Tsuchiya, Y., Venco, P., Pasqualato, S., Goffrini, P., Tigano, M., Demchenko, N., Wieland, T., Schwarzmayr, T., Strom, T., Invernizzi, F., Garavaglia, B., Gregory, A., Sanford, L., Hamada, J., Bettencourt, C., Houlden, H., Chiapparini, L., Zorzi, G., Kurian, M., Nardocci, N., Prokisch, H., Hayflick, S., Gout, I. and Tiranti, V.

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    2014 - The American Journal of Human Genetics

    In-text: (Dusi et al., 2014)

    Your Bibliography: Dusi, S., Valletta, L., Haack, T., Tsuchiya, Y., Venco, P., Pasqualato, S., Goffrini, P., Tigano, M., Demchenko, N., Wieland, T., Schwarzmayr, T., Strom, T., Invernizzi, F., Garavaglia, B., Gregory, A., Sanford, L., Hamada, J., Bettencourt, C., Houlden, H., Chiapparini, L., Zorzi, G., Kurian, M., Nardocci, N., Prokisch, H., Hayflick, S., Gout, I. and Tiranti, V. (2014). Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation. The American Journal of Human Genetics, 94(1), pp.11-22.

  • Journal

    Fekete, R.

    Late Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism

    2012 - Case Reports in Neurological Medicine

    In-text: (Fekete, 2012)

    Your Bibliography: Fekete, R. (2012). Late Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism. Case Reports in Neurological Medicine, 2012, pp.1-3.

  • Journal

    Gadodia, A., Kumar, A., Sankhyan, N., Sharma, S. and Vasisht, N.

    Neurodegeneration With Pantothenate Kinase Syndrome

    2009 - Archives of Neurology

    In-text: (Gadodia et al., 2009)

    Your Bibliography: Gadodia, A., Kumar, A., Sankhyan, N., Sharma, S. and Vasisht, N. (2009). Neurodegeneration With Pantothenate Kinase Syndrome. Archives of Neurology, 66(6).

  • Website

    PLA2G6 gene

    2015

    In-text: (Genetics Home Reference, 2015)

    Your Bibliography: Genetics Home Reference. (2015). PLA2G6 gene. [online] Available at: http://ghr.nlm.nih.gov/gene/PLA2G6 [Accessed 11 Mar. 2015].

  • Journal

    Gregory, A. and Hayflick, S. J.

    Genetics of Neurodegeneration with Brain Iron Accumulation

    2011 - Current Neurology and Neuroscience Reports

    In-text: (Gregory and Hayflick, 2011)

    Your Bibliography: Gregory, A. and Hayflick, S. (2011). Genetics of Neurodegeneration with Brain Iron Accumulation. Current Neurology and Neuroscience Reports, 11(3), pp.254-261.

  • Journal

    Gregory, A., Polster, B. J. and Hayflick, S. J.

    Clinical and genetic delineation of neurodegeneration with brain iron accumulation

    2008 - Journal of Medical Genetics

    In-text: (Gregory, Polster and Hayflick, 2008)

    Your Bibliography: Gregory, A., Polster, B. and Hayflick, S. (2008). Clinical and genetic delineation of neurodegeneration with brain iron accumulation. Journal of Medical Genetics, 46(2), pp.73-80.

  • Journal

    Haack, T., Hogarth, P., Kruer, M., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., Cuno, S., Harik, S., Dandu, V., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Héron, D., Mignot, C., Garavaglia, B., Bhatia, K., Hardy, J., Strom, T., Boddaert, N., Houlden, H., Kurian, M., Meitinger, T., Prokisch, H. and Hayflick, S.

    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    2012 - The American Journal of Human Genetics

    In-text: (Haack et al., 2012)

    Your Bibliography: Haack, T., Hogarth, P., Kruer, M., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., Cuno, S., Harik, S., Dandu, V., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Héron, D., Mignot, C., Garavaglia, B., Bhatia, K., Hardy, J., Strom, T., Boddaert, N., Houlden, H., Kurian, M., Meitinger, T., Prokisch, H. and Hayflick, S. (2012). Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. The American Journal of Human Genetics, 91(6), pp.1144-1149.

  • Journal

    Hartig, M., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C., Tiranti, V., Kretzschmar, H., Schmitz, G., Strom, T., Meitinger, T. and Prokisch, H.

    Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

    2011 - The American Journal of Human Genetics

    In-text: (Hartig et al., 2011)

    Your Bibliography: Hartig, M., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C., Tiranti, V., Kretzschmar, H., Schmitz, G., Strom, T., Meitinger, T. and Prokisch, H. (2011). Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation. The American Journal of Human Genetics, 89(4), pp.543-550.

  • Journal

    Hayflick, S. J.

    Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis

    2006 - Seminars in Pediatric Neurology

    In-text: (Hayflick, 2006)

    Your Bibliography: Hayflick, S. (2006). Neurodegeneration With Brain Iron Accumulation: From Genes to Pathogenesis. Seminars in Pediatric Neurology, 13(3), pp.182-185.

  • Journal

    Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., Dandu, V. H., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Holden, K. R., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Mignot, C., Heron, D., Saunders, D. E., Kaminska, M., Lin, J., Lascelles, K., Cuno, S. M., Meyer, E., Garavaglia, B., Bhatia, K., de Silva, R., Crisp, S., Lunt, P., Carey, M., Hardy, J., Meitinger, T., Prokisch, H. and Hogarth, P.

    Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

    2013 - Brain

    In-text: (Hayflick et al., 2013)

    Your Bibliography: Hayflick, S., Kruer, M., Gregory, A., Haack, T., Kurian, M., Houlden, H., Anderson, J., Boddaert, N., Sanford, L., Harik, S., Dandu, V., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Holden, K., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Mignot, C., Heron, D., Saunders, D., Kaminska, M., Lin, J., Lascelles, K., Cuno, S., Meyer, E., Garavaglia, B., Bhatia, K., de Silva, R., Crisp, S., Lunt, P., Carey, M., Hardy, J., Meitinger, T., Prokisch, H. and Hogarth, P. (2013). Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain, 136(6), pp.1708-1717.

  • Journal

    Hayflick, S. J., Westaway, S. K., Levinson, B., Zhou, B., Johnson, M. A., Ching, K. H. and Gitschier, J.

    Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

    2003 - New England Journal of Medicine

    In-text: (Hayflick et al., 2003)

    Your Bibliography: Hayflick, S., Westaway, S., Levinson, B., Zhou, B., Johnson, M., Ching, K. and Gitschier, J. (2003). Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome. New England Journal of Medicine, 348(1), pp.33-40.

  • Journal

    Hogarth, P.

    Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management

    2015 - JMD

    In-text: (Hogarth, 2015)

    Your Bibliography: Hogarth, P. (2015). Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management. JMD, 8(1), pp.1-13.

  • Journal

    Hogarth, P., Gregory, A., Kruer, M. C., Sanford, L., Wagoner, W., Natowicz, M. R., Egel, R. T., Subramony, S. H., Goldman, J. G., Berry-Kravis, E., Foulds, N. C., Hammans, S. R., Desguerre, I., Rodriguez, D., Wilson, C., Diedrich, A., Green, S., Tran, H., Reese, L., Woltjer, R. L. and Hayflick, S. J.

    New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

    2012 - Neurology

    In-text: (Hogarth et al., 2012)

    Your Bibliography: Hogarth, P., Gregory, A., Kruer, M., Sanford, L., Wagoner, W., Natowicz, M., Egel, R., Subramony, S., Goldman, J., Berry-Kravis, E., Foulds, N., Hammans, S., Desguerre, I., Rodriguez, D., Wilson, C., Diedrich, A., Green, S., Tran, H., Reese, L., Woltjer, R. and Hayflick, S. (2012). New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN. Neurology, 80(3), pp.268-275.

  • Journal

    Horvath, R.

    Brain iron takes off: a new propeller protein links neurodegeneration with autophagy

    2013 - Brain

    In-text: (Horvath, 2013)

    Your Bibliography: Horvath, R. (2013). Brain iron takes off: a new propeller protein links neurodegeneration with autophagy. Brain, 136(6), pp.1687-1691.

  • Journal

    Illingworth, M., Meyer, E., Chong, W., Manzur, A., Carr, L., Younis, R., Hardy, C., McDonald, F., Childs, A., Stewart, B., Warren, D., Kneen, R., King, M., Hayflick, S. and Kurian, M.

    PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

    2014 - Molecular Genetics and Metabolism

    In-text: (Illingworth et al., 2014)

    Your Bibliography: Illingworth, M., Meyer, E., Chong, W., Manzur, A., Carr, L., Younis, R., Hardy, C., McDonald, F., Childs, A., Stewart, B., Warren, D., Kneen, R., King, M., Hayflick, S. and Kurian, M. (2014). PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Molecular Genetics and Metabolism, 112(2), pp.183-189.

  • Journal

    Kalman, B., Lautenschlaeger, R., Kohlmayer, F., Büchner, B., Kmiec, T., Klopstock, T. and Kuhn, K. A.

    An international registry for neurodegeneration with brain iron accumulation

    2012 - Orphanet J Rare Dis

    In-text: (Kalman et al., 2012)

    Your Bibliography: Kalman, B., Lautenschlaeger, R., Kohlmayer, F., Büchner, B., Kmiec, T., Klopstock, T. and Kuhn, K. (2012). An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis, 7(1), p.66.

  • Journal

    Kingwell, K.

    Genetics: Mutations in autophagy gene cause a rare and severe neurodegenerative disease

    2013 - Nat Rev Neurol

    In-text: (Kingwell, 2013)

    Your Bibliography: Kingwell, K. (2013). Genetics: Mutations in autophagy gene cause a rare and severe neurodegenerative disease. Nat Rev Neurol, 9(4), pp.182-182.

  • Journal

    Kruer, M. C., Hiken, M., Gregory, A., Malandrini, A., Clark, D., Hogarth, P., Grafe, M., Hayflick, S. J. and Woltjer, R. L.

    Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

    2011 - Brain

    In-text: (Kruer et al., 2011)

    Your Bibliography: Kruer, M., Hiken, M., Gregory, A., Malandrini, A., Clark, D., Hogarth, P., Grafe, M., Hayflick, S. and Woltjer, R. (2011). Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain, 134(4), pp.947-958.

  • Journal

    Kruer, M. C., Paudel, R., Wagoner, W., Sanford, L., Kara, E., Gregory, A., Foltynie, T., Lees, A., Bhatia, K., Hardy, J., Hayflick, S. J. and Houlden, H.

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

    2012 - Neuroscience Letters

    In-text: (Kruer et al., 2012)

    Your Bibliography: Kruer, M., Paudel, R., Wagoner, W., Sanford, L., Kara, E., Gregory, A., Foltynie, T., Lees, A., Bhatia, K., Hardy, J., Hayflick, S. and Houlden, H. (2012). Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters, 523(1), pp.35-38.

  • Journal

    KURIAN, M. A., MCNEILL, A., LIN, J. and MAHER, E. R.

    Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

    2011 - Developmental Medicine & Child Neurology

    In-text: (KURIAN et al., 2011)

    Your Bibliography: KURIAN, M., MCNEILL, A., LIN, J. and MAHER, E. (2011). Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Developmental Medicine & Child Neurology, 53(5), pp.394-404.

  • Journal

    Li, X., Jankovic, J. and Le, W.

    Iron chelation and neuroprotection in neurodegenerative diseases

    2010 - Journal of Neural Transmission

    In-text: (Li, Jankovic and Le, 2010)

    Your Bibliography: Li, X., Jankovic, J. and Le, W. (2010). Iron chelation and neuroprotection in neurodegenerative diseases. Journal of Neural Transmission, 118(3), pp.473-477.

  • Journal

    MAHONEY, R., SELWAY, R. and LIN, J.

    Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation

    2010 - Developmental Medicine & Child Neurology

    In-text: (MAHONEY, SELWAY and LIN, 2010)

    Your Bibliography: MAHONEY, R., SELWAY, R. and LIN, J. (2010). Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation. Developmental Medicine & Child Neurology, 53(3), pp.275-279.

  • Journal

    McNeill, A., Birchall, D., Hayflick, S. J., Gregory, A., Schenk, J. F., Zimmerman, E. A., Shang, H., Miyajima, H. and Chinnery, P. F.

    T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

    2008 - Neurology

    In-text: (McNeill et al., 2008)

    Your Bibliography: McNeill, A., Birchall, D., Hayflick, S., Gregory, A., Schenk, J., Zimmerman, E., Shang, H., Miyajima, H. and Chinnery, P. (2008). T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology, 70(18), pp.1614-1619.

  • Journal

    McNeill, A., Pandolfo, M., Kuhn, J., Shang, H. and Miyajima, H.

    The Neurological Presentation of Ceruloplasmin Gene Mutations

    2008 - Eur Neurol

    In-text: (McNeill et al., 2008)

    Your Bibliography: McNeill, A., Pandolfo, M., Kuhn, J., Shang, H. and Miyajima, H. (2008). The Neurological Presentation of Ceruloplasmin Gene Mutations. Eur Neurol, 60(4), pp.200-205.

  • Journal

    Moos, T., Bernth, N., Courtois, Y. and Morgan, E.

    Developmental iron uptake and axonal transport in the retina of the rat

    2011 - Molecular and Cellular Neuroscience

    In-text: (Moos et al., 2011)

    Your Bibliography: Moos, T., Bernth, N., Courtois, Y. and Morgan, E. (2011). Developmental iron uptake and axonal transport in the retina of the rat. Molecular and Cellular Neuroscience, 46(3), pp.607-613.

  • Journal

    Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangul, H., Coryell, J., Canham, N., Nardocci, N., Zorzi, G., Pasha, S., Rodriguez, D., Desguerre, I., Mubaidin, A., Bertini, E., Trembath, R. C., Simonati, A., Schanen, C., Johnson, C. A., Levinson, B., Woods, C. G., Wilmot, B., Kramer, P., Gitschier, J., Maher, E. R. and Hayflick, S. J.

    Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    2006 - Nat Genet

    In-text: (Morgan et al., 2006)

    Your Bibliography: Morgan, N., Westaway, S., Morton, J., Gregory, A., Gissen, P., Sonek, S., Cangul, H., Coryell, J., Canham, N., Nardocci, N., Zorzi, G., Pasha, S., Rodriguez, D., Desguerre, I., Mubaidin, A., Bertini, E., Trembath, R., Simonati, A., Schanen, C., Johnson, C., Levinson, B., Woods, C., Wilmot, B., Kramer, P., Gitschier, J., Maher, E. and Hayflick, S. (2006). Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet, 38(8), pp.957-957.

  • Journal

    Namavar, Y., Barth, P. G., Poll-The, B. and Baas, F.

    Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

    2011 - Orphanet J Rare Dis

    In-text: (Namavar et al., 2011)

    Your Bibliography: Namavar, Y., Barth, P., Poll-The, B. and Baas, F. (2011). Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. Orphanet J Rare Dis, 6(1), p.50.

  • Journal

    Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N. L., Holmes Morton, D., Strauss, K. A., Puffenberger, E. G., D'Agnano, D., Anikster, Y., Carducci, C., Hyland, K., Rotstein, M., Leuzzi, V., Borck, G., Reith, M. E. A. and Kurian, M. A.

    Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

    2014 - Brain

    In-text: (Ng et al., 2014)

    Your Bibliography: Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N., Holmes Morton, D., Strauss, K., Puffenberger, E., D'Agnano, D., Anikster, Y., Carducci, C., Hyland, K., Rotstein, M., Leuzzi, V., Borck, G., Reith, M. and Kurian, M. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain, 137(4), pp.1107-1119.

  • Website

    Neurodegeneration with Brain Iron Accumulation Information Page: National Institute of Neurological Disorders and Stroke (NINDS)

    2015

    In-text: (Ninds.nih.gov, 2015)

    Your Bibliography: Ninds.nih.gov. (2015). Neurodegeneration with Brain Iron Accumulation Information Page: National Institute of Neurological Disorders and Stroke (NINDS). [online] Available at: http://www.ninds.nih.gov/disorders/nbia/nbia.htm [Accessed 19 Feb. 2015].

  • Journal

    O′Farrell, F., Rusten, T. E. and Stenmark, H.

    Phosphoinositide 3-kinases as accelerators and brakes of autophagy

    2013 - FEBS Journal

    In-text: (O′Farrell, Rusten and Stenmark, 2013)

    Your Bibliography: O′Farrell, F., Rusten, T. and Stenmark, H. (2013). Phosphoinositide 3-kinases as accelerators and brakes of autophagy. FEBS Journal, 280(24), pp.6322-6337.

  • Journal

    Ohta, E. and Takiyama, Y.

    MRI Findings in Neuroferritinopathy

    2012 - Neurology Research International

    In-text: (Ohta and Takiyama, 2012)

    Your Bibliography: Ohta, E. and Takiyama, Y. (2012). MRI Findings in Neuroferritinopathy. Neurology Research International, 2012, pp.1-7.

  • Website

    OMIM Entry - * 610513 - ATPase, TYPE 13A2; ATP13A2

    2015

    In-text: (Omim.org, 2015)

    Your Bibliography: Omim.org. (2015). OMIM Entry - * 610513 - ATPase, TYPE 13A2; ATP13A2. [online] Available at: http://www.omim.org/entry/610513?search=atp13a2&highlight=atp13a2 [Accessed 14 Mar. 2015].

  • Journal

    Paisan-Ruiz, C., Bhatia, K. P., Li, A., Hernandez, D., Davis, M., Wood, N. W., Hardy, J., Houlden, H., Singleton, A. and Schneider, S. A.

    Characterization of PLA2G6 as a locus for dystonia-parkinsonism

    2008 - Annals of Neurology

    In-text: (Paisan-Ruiz et al., 2008)

    Your Bibliography: Paisan-Ruiz, C., Bhatia, K., Li, A., Hernandez, D., Davis, M., Wood, N., Hardy, J., Houlden, H., Singleton, A. and Schneider, S. (2008). Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of Neurology, 65(1), pp.19-23.

  • Journal

    Park, J., Koentjoro, B., Veivers, D., Mackay-Sim, A. and Sue, C. M.

    Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

    2014 - Human Molecular Genetics

    In-text: (Park et al., 2014)

    Your Bibliography: Park, J., Koentjoro, B., Veivers, D., Mackay-Sim, A. and Sue, C. (2014). Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction. Human Molecular Genetics, 23(11), pp.2802-2815.

  • Journal

    Patel, S. and Bardovich, A. J.

    Analysis and Classification of Cerebellar Malformations

    2002 - American Journal of Neuroradiology

    In-text: (Patel and Bardovich, 2002)

    Your Bibliography: Patel, S. and Bardovich, A. (2002). Analysis and Classification of Cerebellar Malformations. American Journal of Neuroradiology.

  • Journal

    Pierson, T. M., Simeonov, D. R., Sincan, M., Adams, D. A., Markello, T., Golas, G., Fuentes-Fajardo, K., Hansen, N. F., Cherukuri, P. F., Cruz, P., Blackstone, C., Tifft, C., Boerkoel, C. F. and Gahl, W. A.

    Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

    2011 - Eur J Hum Genet

    In-text: (Pierson et al., 2011)

    Your Bibliography: Pierson, T., Simeonov, D., Sincan, M., Adams, D., Markello, T., Golas, G., Fuentes-Fajardo, K., Hansen, N., Cherukuri, P., Cruz, P., Blackstone, C., Tifft, C., Boerkoel, C. and Gahl, W. (2011). Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet, 20(4), pp.476-479.

  • Journal

    Podhajska, A., Musso, A., Trancikova, A., Stafa, K., Moser, R., Sonnay, S., Glauser, L. and Moore, D. J.

    Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

    2012 - PLoS ONE

    In-text: (Podhajska et al., 2012)

    Your Bibliography: Podhajska, A., Musso, A., Trancikova, A., Stafa, K., Moser, R., Sonnay, S., Glauser, L. and Moore, D. (2012). Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism. PLoS ONE, 7(6), p.e39942.

  • Journal

    Rakheja, D., Uddin, N., Mitui, M., Cope-Yokoyama, S., Hogan, R. N. and Burns, D. K.

    Fetal Akinesia Deformation Sequence and Neuroaxonal Dystrophy without PLA2G6 Mutation

    2010 - Pediatric and Developmental Pathology

    In-text: (Rakheja et al., 2010)

    Your Bibliography: Rakheja, D., Uddin, N., Mitui, M., Cope-Yokoyama, S., Hogan, R. and Burns, D. (2010). Fetal Akinesia Deformation Sequence and Neuroaxonal Dystrophy without PLA2G6 Mutation. Pediatric and Developmental Pathology, 13(6), pp.492-496.

  • Journal

    Rouault, T. A.

    Iron metabolism in the CNS: implications for neurodegenerative diseases

    2013 - Nature Reviews Neuroscience

    In-text: (Rouault, 2013)

    Your Bibliography: Rouault, T. (2013). Iron metabolism in the CNS: implications for neurodegenerative diseases. Nature Reviews Neuroscience, 14(8), pp.551-564.

  • Journal

    Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., Ryujin, F., Yoshioka, S., Nishiyama, K., Kondo, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Arakawa, H., Kato, M., Mizushima, N. and Matsumoto, N.

    De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

    2013 - Nat Genet

    In-text: (Saitsu et al., 2013)

    Your Bibliography: Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., Ryujin, F., Yoshioka, S., Nishiyama, K., Kondo, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Arakawa, H., Kato, M., Mizushima, N. and Matsumoto, N. (2013). De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet, 45(4), pp.445-449.

  • Journal

    Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., Ryujin, F., Yoshioka, S., Nishiyama, K., Kondo, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Arakawa, H., Kato, M., Mizushima, N. and Matsumoto, N.

    De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

    2013 - Nat Genet

    In-text: (Saitsu et al., 2013)

    Your Bibliography: Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., Ryujin, F., Yoshioka, S., Nishiyama, K., Kondo, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Arakawa, H., Kato, M., Mizushima, N. and Matsumoto, N. (2013). De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet, 45(4), pp.445-449.

  • Journal

    Schipper, H. M.

    Neurodegeneration with brain iron accumulation — Clinical syndromes and neuroimaging

    2012 - Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

    In-text: (Schipper, 2012)

    Your Bibliography: Schipper, H. (2012). Neurodegeneration with brain iron accumulation — Clinical syndromes and neuroimaging. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1822(3), pp.350-360.

  • Journal

    Schneider, S. A. and Bhatia, K. P.

    Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA)

    2012 - Journal of Neural Transmission

    In-text: (Schneider and Bhatia, 2012)

    Your Bibliography: Schneider, S. and Bhatia, K. (2012). Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). Journal of Neural Transmission, 120(4), pp.695-703.

  • Journal

    Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J. and Bhatia, K. P.

    ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

    2010 - Movement Disorders

    In-text: (Schneider et al., 2010)

    Your Bibliography: Schneider, S., Paisan-Ruiz, C., Quinn, N., Lees, A., Houlden, H., Hardy, J. and Bhatia, K. (2010). ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Movement Disorders, 25(8), pp.979-984.

  • Journal

    Schneider, S. A., Zorzi, G. and Nardocci, N.

    Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population

    2013 - Current Treatment Options in Neurology

    In-text: (Schneider, Zorzi and Nardocci, 2013)

    Your Bibliography: Schneider, S., Zorzi, G. and Nardocci, N. (2013). Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population. Current Treatment Options in Neurology, 15(5), pp.652-667.

  • Journal

    Shah, C. C., Yousaf, M., Ramakrishnaiah, R. H., Kaushik, C. and Kumar, M.

    Pantothenate Kinase 2 Deficiency: A Neurodegeneration With Brain Iron Accumulation

    2009 - Radiol. Case Rep.

    In-text: (Shah et al., 2009)

    Your Bibliography: Shah, C., Yousaf, M., Ramakrishnaiah, R., Kaushik, C. and Kumar, M. (2009). Pantothenate Kinase 2 Deficiency: A Neurodegeneration With Brain Iron Accumulation. Radiol. Case Rep., 4(3).

  • Journal

    Shroff, M. and Chavhan, G.

    Twenty classic signs in neuroradiology: A pictorial essay

    2009 - Indian Journal of Radiology and Imaging

    In-text: (Shroff and Chavhan, 2009)

    Your Bibliography: Shroff, M. and Chavhan, G. (2009). Twenty classic signs in neuroradiology: A pictorial essay. Indian Journal of Radiology and Imaging, 19(2), p.135.

  • Journal

    Shroff, M. and Chavhan, G.

    Twenty classic signs in neuroradiology: A pictorial essay

    2009 - Indian Journal of Radiology and Imaging

    In-text: (Shroff and Chavhan, 2009)

    Your Bibliography: Shroff, M. and Chavhan, G. (2009). Twenty classic signs in neuroradiology: A pictorial essay. Indian Journal of Radiology and Imaging, 19(2), p.135.

  • Journal

    Singh, N., Haldar, S., Tripathi, A. K., Horback, K., Wong, J., Sharma, D., Beserra, A., Suda, S., Anbalagan, C., Dev, S., Mukhopadhyay, C. K. and Singh, A.

    Brain Iron Homeostasis: From Molecular Mechanisms To Clinical Significance and Therapeutic Opportunities

    2014 - Antioxidants & Redox Signaling

    In-text: (Singh et al., 2014)

    Your Bibliography: Singh, N., Haldar, S., Tripathi, A., Horback, K., Wong, J., Sharma, D., Beserra, A., Suda, S., Anbalagan, C., Dev, S., Mukhopadhyay, C. and Singh, A. (2014). Brain Iron Homeostasis: From Molecular Mechanisms To Clinical Significance and Therapeutic Opportunities. Antioxidants & Redox Signaling, 20(8), pp.1324-1363.

  • Journal

    Steindl, K., Alazami, A., Bhatia, K., Wuerfel, J., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. and Schneider, S.

    A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

    2010 - Clinical Genetics

    In-text: (Steindl et al., 2010)

    Your Bibliography: Steindl, K., Alazami, A., Bhatia, K., Wuerfel, J., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. and Schneider, S. (2010). A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clinical Genetics, 78(6), pp.594-597.

  • Journal

    Stocco, A., Lebiere, C. and Anderson, J. R.

    Conditional routing of information to the cortex: A model of the basal ganglia’s role in cognitive coordination.

    2010 - Psychological Review

    In-text: (Stocco, Lebiere and Anderson, 2010)

    Your Bibliography: Stocco, A., Lebiere, C. and Anderson, J. (2010). Conditional routing of information to the cortex: A model of the basal ganglia’s role in cognitive coordination. Psychological Review, 117(2), pp.541-574.

  • Journal

    Thomas, M., Hayflick, S. J. and Jankovic, J.

    Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration

    2004 - Movement Disorders

    In-text: (Thomas, Hayflick and Jankovic, 2004)

    Your Bibliography: Thomas, M., Hayflick, S. and Jankovic, J. (2004). Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Movement Disorders, 19(1), pp.36-42.

  • Journal

    Timmermann, L., Pauls, K. A. M., Wieland, K., Jech, R., Kurlemann, G., Sharma, N., Gill, S. S., Haenggeli, C. A., Hayflick, S. J., Hogarth, P., Leenders, K. L., Limousin, P., Malanga, C. J., Moro, E., Ostrem, J. L., Revilla, F. J., Santens, P., Schnitzler, A., Tisch, S., Valldeoriola, F., Vesper, J., Volkmann, J., Woitalla,, D. and Peker, S.

    Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation

    2010 - Brain

    In-text: (Timmermann et al., 2010)

    Your Bibliography: Timmermann, L., Pauls, K., Wieland, K., Jech, R., Kurlemann, G., Sharma, N., Gill, S., Haenggeli, C., Hayflick, S., Hogarth, P., Leenders, K., Limousin, P., Malanga, C., Moro, E., Ostrem, J., Revilla, F., Santens, P., Schnitzler, A., Tisch, S., Valldeoriola, F., Vesper, J., Volkmann, J., Woitalla,, D. and Peker, S. (2010). Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation. Brain, 133(3), pp.701-712.

  • Website

    tircon.eu - Home

    2015

    In-text: (Tircon.eu, 2015)

    Your Bibliography: Tircon.eu. (2015). tircon.eu - Home. [online] Available at: http://tircon.eu [Accessed 19 Mar. 2015].

  • Journal

    Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R. and Zecca, L.

    The role of iron in brain ageing and neurodegenerative disorders

    2014 - The Lancet Neurology

    In-text: (Ward et al., 2014)

    Your Bibliography: Ward, R., Zucca, F., Duyn, J., Crichton, R. and Zecca, L. (2014). The role of iron in brain ageing and neurodegenerative disorders. The Lancet Neurology, 13(10), pp.1045-1060.

  • Journal

    Weinreb, O., Amit, T., Mandel, S., Kupershmidt, L. and Youdim, M. B.

    Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities

    2010 - Antioxidants & Redox Signaling

    In-text: (Weinreb et al., 2010)

    Your Bibliography: Weinreb, O., Amit, T., Mandel, S., Kupershmidt, L. and Youdim, M. (2010). Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities. Antioxidants & Redox Signaling, 13(6), pp.919-949.

  • Journal

    Wills, A. J.

    Palatal tremor and cognitive decline in neuroferritinopathy

    2002 - Journal of Neurology, Neurosurgery & Psychiatry

    In-text: (Wills, 2002)

    Your Bibliography: Wills, A. (2002). Palatal tremor and cognitive decline in neuroferritinopathy. Journal of Neurology, Neurosurgery & Psychiatry, 73(1), pp.91-92.

  • Journal

    Xu, J., Jia, Z., Knutson, M. D. and Leeuwenburgh, C.

    Impaired Iron Status in Aging Research

    2012 - IJMS

    In-text: (Xu et al., 2012)

    Your Bibliography: Xu, J., Jia, Z., Knutson, M. and Leeuwenburgh, C. (2012). Impaired Iron Status in Aging Research. IJMS, 13(12), pp.2368-2386.

  • Journal

    Yiu, E. M. and Ryan, M. M.

    Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

    2012 - Journal of the Peripheral Nervous System

    In-text: (Yiu and Ryan, 2012)

    Your Bibliography: Yiu, E. and Ryan, M. (2012). Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. Journal of the Peripheral Nervous System, 17(3), pp.285-300.

  • Journal

    Zhu, W., Li, X., Xie, W., Luo, F., Kaur, D., Andersen, J. K., Jankovic, J. and Le, W.

    Genetic iron chelation protects against proteasome inhibition-induced dopamine neuron degeneration

    2010 - Neurobiology of Disease

    In-text: (Zhu et al., 2010)

    Your Bibliography: Zhu, W., Li, X., Xie, W., Luo, F., Kaur, D., Andersen, J., Jankovic, J. and Le, W. (2010). Genetic iron chelation protects against proteasome inhibition-induced dopamine neuron degeneration. Neurobiology of Disease, 37(2), pp.307-313.

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