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  1. Article: Matti Ayräpään palkinto v. 2001 Riitta Harille.

    Haltia, M / Mäkelä, J P

    Duodecim; laaketieteellinen aikakauskirja

    2002  Volume 117, Issue 7, Page(s) 677–679

    Title translation Year 2001 Matti Ayrapää award to Riitta Hari.
    MeSH term(s) Awards and Prizes ; Finland ; History, 21st Century ; Humans ; Neurophysiology/history
    Language Finnish
    Publishing date 2002-05-14
    Publishing country Finland
    Document type Biography ; Historical Article ; Journal Article ; Portrait
    ZDB-ID 127604-9
    ISSN 0012-7183
    ISSN 0012-7183
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Book ; Conference proceedings: The Sixth International Congress on Neuronal Ceroid Lipofuscinoses (NCL-96)

    Haltia, Matti

    8 - 11 June 1996, Gustavelund, Finland

    (Neuropediatrics ; 28,1)

    1997  

    Event/congress International Congress on Neuronal Ceroid Lipofuscinoses (NCL-96) (6, 1996, Gustavelund)
    Author's details guest eds.: Matti Haltia
    Series title Neuropediatrics ; 28,1
    Collection
    Keywords Neuronal Ceroid-Lipofuscinosis / genetics / congresses ; Chromosomes, Human, Pair 16 / congresses ; Variation (Genetics) / congresses ; Linkage Disequilibrium / congresses ; Neuronal Ceroid-Lipofuscinosis / diagnosis / congresses
    Language English
    Size S. 3 - 84 : Ill., graph. Darst.
    Publisher Hippokrates Verl
    Publishing place Stuttgart
    Document type Book ; Conference proceedings
    HBZ-ID HT007534692
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    Zs A 728 -28- not available for loan Zeitschriften-Lesesaal

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  3. Book ; Conference proceedings: Final program and abstracts / The Sixth International Congress on Neuronal Ceroid Lipofuscinoses (NCL-96)

    Haltia, Matti

    8 - 11 June 1996, Gustavelund, Finland

    1996  

    Event/congress International Congress on Neuronal Ceroid Lipofuscinoses (NCL-96) (6, 1996, Gustavelund)
    Author's details [organizing committee Matti Haltia chairman ...]
    Keywords Neuronal Ceroid-Lipofuscinosis / genetics ; Chromosomes, Human, Pair 16 ; Variation (Genetics) ; Linkage Disequilibrium ; Neuronal Ceroid-Lipofuscinosis / diagnosis
    Language English
    Size 123 S.
    Publishing place S.l.
    Publishing country Finland
    Document type Book ; Conference proceedings
    HBZ-ID HT014290694
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1998 A 10784 order for loan Magazin

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  4. Book ; Conference proceedings: Abstracts / Fourth International Symposium on Lipofuscin and Ceroid Pigments

    Haltia, Matti

    biology of aging -92 ; June 13 - 16, 1992, Tampere, Finland

    1992  

    Event/congress International Symposium on Lipofuscin and Ceroid Pigments (4, 1992, Tampere)
    Author's details [International advisory committee M. Haltia ...]
    Language English
    Size 51 S.
    Publishing place S.l.
    Publishing country Finland
    Document type Book ; Conference proceedings
    HBZ-ID HT008709948
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1998 A 4317 order for loan Magazin

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  5. Book: Pathobiology of Alzheimer's disease

    Haltia, Matti

    (Annals of medicine ; 21,2)

    1989  

    Institution Paulo Foundation
    Author's details Fifth Paulo Foundation international symposium, Hanasaari, Espoo, Finland, June 17 - 19, 1988. Spec. ed.: Matti Haltia
    Series title Annals of medicine ; 21,2
    Keywords Alzheimer Disease / congresses
    Language English
    Size S. [65] - 136 : Ill., graph. Darst.
    Publisher Finn. Med. Soc
    Publishing place Helsinki
    Publishing country Finland
    Document type Book
    HBZ-ID HT003334472
    Database Catalogue ZB MED Medicine, Health

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    Zs A 680 -21- verfügbar in Königswinter Königswinter

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  6. Article ; Online: Finnish neuroscience from past to present.

    Korpi, Esa R / Lindholm, Dan / Panula, Pertti / Tienari, Pentti J / Haltia, Matti

    The European journal of neuroscience

    2020  Volume 52, Issue 5, Page(s) 3273–3289

    MeSH term(s) Finland ; Neurosciences
    Language English
    Publishing date 2020-02-18
    Publishing country France
    Document type Editorial
    ZDB-ID 645180-9
    ISSN 1460-9568 ; 0953-816X
    ISSN (online) 1460-9568
    ISSN 0953-816X
    DOI 10.1111/ejn.14693
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: The neuronal ceroid-lipofuscinoses: from past to present.

    Haltia, Matti

    Biochimica et biophysica acta

    2006  Volume 1762, Issue 10, Page(s) 850–856

    Abstract: The neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and constitute the most common group of children's progressive encephalopathies. Most childhood forms of NCL are clinically characterized by progressive loss of vision as ... ...

    Abstract The neuronal ceroid-lipofuscinoses (NCLs) are inherited lysosomal storage diseases and constitute the most common group of children's progressive encephalopathies. Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death, while the rare adult forms are dominated by dementia. All forms of NCL share common pathomorphological features. Autofluorescent, periodic acid-Schiff- and Sudan black B-positive granules, resistant to lipid solvents, accumulate in the cytoplasm of most nerve cells, and there is progressive and remarkably selective neuronal degeneration and loss. For a long time, the NCLs were grouped under the heading of the "amaurotic family idiocies" and conceived as lipidoses. However, in the late 1980s and 1990s the NCL storage cytosomes were shown to consist largely of two hydrophobic proteins: either subunit c of mitochondrial ATP synthase or sphingolipid activator proteins A and D. Since 1995 numerous mutations in at least seven different genes have been shown to underlie the multiple human and animal forms of NCL. This review discusses the historical evolution of the NCL concept and the impact of the recent biochemical and molecular genetic findings on our views on the classification and pathogenesis of these devastating brain disorders.
    MeSH term(s) Cerebellar Cortex/pathology ; Cerebellar Cortex/ultrastructure ; Genetic Predisposition to Disease ; History, 19th Century ; History, 20th Century ; Humans ; Membrane Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/classification ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/history ; Neuronal Ceroid-Lipofuscinoses/pathology
    Chemical Substances Membrane Proteins ; PPT1 protein, human
    Language English
    Publishing date 2006-10
    Publishing country Netherlands
    Document type Historical Article ; Journal Article ; Review
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2006.06.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book: Postnatal development of spinal anterior horn neurones in normal and undernourished rats

    Haltia, Matti

    a quantitative cytochemical study

    (Acta physiologica Scandinavica : Supplementum ; 352)

    1970  

    Author's details by Matti Haltia
    Series title Acta physiologica Scandinavica : Supplementum ; 352
    Acta physiologica Scandinavica
    Acta physiologica Scandinavica ; Supplementum
    Collection Acta physiologica Scandinavica
    Acta physiologica Scandinavica ; Supplementum
    Language English
    Size 70 S.
    Publishing place Stockholm
    Publishing country Sweden
    Document type Book
    HBZ-ID HT006672817
    Database Catalogue ZB MED Medicine, Health

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    Uc I Zs 229 -Suppl.352- verfügbar in Königswinter Königswinter

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  9. Article ; Online: Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).

    Luo, Huihui / Gustavsson, Emil K / Macpherson, Hannah / Dominik, Natalia / Zhelcheska, Kristina / Montgomery, Kylie / Anderson, Claire / Yau, Wai Yan / Efthymiou, Stephanie / Turner, Chris / DeTure, Michael / Dickson, Dennis W / Josephs, Keith A / Revesz, Tamas / Lashley, Tammaryn / Halliday, Glenda / Rowe, Dominic B / McCann, Emily / Blair, Ian /
    Lees, Andrew J / Tienari, Pentti J / Suomalainen, Anu / Molina-Porcel, Laura / Kovacs, Gabor G / Gelpi, Ellen / Hardy, John / Haltia, Matti J / Tucci, Arianna / Jaunmuktane, Zane / Ryten, Mina / Houlden, Henry / Chen, Zhongbo

    Acta neuropathologica communications

    2024  Volume 12, Issue 1, Page(s) 2

    MeSH term(s) Humans ; Intranuclear Inclusion Bodies/metabolism ; Neurodegenerative Diseases/metabolism
    Language English
    Publishing date 2024-01-02
    Publishing country England
    Document type Letter
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-023-01706-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: The neuronal ceroid-lipofuscinoses: a historical introduction.

    Haltia, Matti / Goebel, Hans H

    Biochimica et biophysica acta

    2013  Volume 1832, Issue 11, Page(s) 1795–1800

    Abstract: The neuronal ceroid-lipofuscinoses (Batten disease) collectively constitute one of the most common groups of inherited childhood onset neurodegenerative disorders, and have also been identified in many domestic and laboratory animals. The group of human ... ...

    Abstract The neuronal ceroid-lipofuscinoses (Batten disease) collectively constitute one of the most common groups of inherited childhood onset neurodegenerative disorders, and have also been identified in many domestic and laboratory animals. The group of human neuronal ceroid-lipofuscinoses currently comprises 14 genetically distinct disorders, mostly characterised by progressive mental, motor and visual deterioration with onset in childhood or adolescence. Abnormal autofluorescent, electron-dense granules accumulate in the cytoplasm of nerve cells, and this storage process is associated with selective destruction and loss of neurons in the brain and retina. The present paper outlines nearly 200 years of clinical, neuropathological, biochemical and molecular genetic research, gradually leading, since 1995, to the identification of 13 different genes and over 360 mutations that underlie these devastating brain disorders and form the basis of a new classification system. These genes are evidently of vital importance for the normal development and maintenance of cerebral neurons. Elucidation of their functions and interactions in health and disease is a prerequisite for the identification of possible therapeutic targets, but may also further our understanding of the basic mechanisms of neurodegeneration and ageing. An account is also given of the development of international cooperation and free access electronic resources facilitating NCL research. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
    MeSH term(s) History, 19th Century ; History, 20th Century ; Humans ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/history ; Neuronal Ceroid-Lipofuscinoses/pathology
    Language English
    Publishing date 2013-11
    Publishing country Netherlands
    Document type Historical Article ; Journal Article
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2012.08.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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