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  1. Book ; Thesis: Terminales Krankheitsbild und Todesursachen bei malignen Lymphomen, retrospektive klinisch-pathologische Analyse von 122 [hundertzweiundzwanzig] unselektierten Autopsiefällen

    Schüle, Birgit

    1983  

    Title variant Terminales Krankheitsbild und Todesursachen bei malignen Lymphomen, retrospektive klinisch-pathologische Analyse von 122 unselektierten Autopsiefällen
    Size III, 73 Bl. : graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Heidelberg, Univ., Diss., 1984
    HBZ-ID HT003250920
    Database Catalogue ZB MED Medicine, Health

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  2. Article: Pure akinesia as initial presentation of PSP: a clinicopathological study.

    Facheris, Maurizio Francesco / Maniak, Susanna / Scaravilli, Francesco / Schüle, Birgit / Klein, Christine / Pramstaller, Peter Paul

    Parkinsonism & related disorders

    2008  Volume 14, Issue 6, Page(s) 517–519

    Abstract: Pure akinesia (PA) is a rare neurodegenerative condition that may represent a limited expression of progressive supranuclear palsy (PSP). Only a few pathological studies have been reported and its classification remains unclear. We report the case of a ... ...

    Abstract Pure akinesia (PA) is a rare neurodegenerative condition that may represent a limited expression of progressive supranuclear palsy (PSP). Only a few pathological studies have been reported and its classification remains unclear. We report the case of a 57-year-old Caucasian man who was initially clinically diagnosed with classical PA. After four years the patient developed additional symptoms and signs compatible with the diagnosis of clinically probable PSP. The diagnosis of PSP was confirmed by post-mortem examination. Genetic analysis of the MAPT gene revealed an A0/A0 genotype, which has been repeatedly associated with the PSP phenotype, and might discriminate between PA and other gait disorders. Our case strengthens the hypothesis that PA should be considered as initial manifestation of PSP.
    MeSH term(s) Autopsy ; Brain/pathology ; Electromyography ; Gait Disorders, Neurologic/pathology ; Globus Pallidus/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Movement Disorders/diagnosis ; Movement Disorders/etiology ; Movement Disorders/pathology ; Neurofibrillary Tangles/pathology ; Neurons/pathology ; Supranuclear Palsy, Progressive/diagnosis ; Supranuclear Palsy, Progressive/etiology ; Supranuclear Palsy, Progressive/pathology
    Language English
    Publishing date 2008-08
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2007.11.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Systems-based analyses of brain regions functionally impacted in Parkinson's disease reveals underlying causal mechanisms.

    Riley, Brigit E / Gardai, Shyra J / Emig-Agius, Dorothea / Bessarabova, Marina / Ivliev, Alexander E / Schüle, Birgitt / Schüle, Birgit / Alexander, Jeff / Wallace, William / Halliday, Glenda M / Langston, J William / Braxton, Scott / Yednock, Ted / Shaler, Thomas / Johnston, Jennifer A

    PloS one

    2014  Volume 9, Issue 8, Page(s) e102909

    Abstract: Detailed analysis of disease-affected tissue provides insight into molecular mechanisms contributing to pathogenesis. Substantia nigra, striatum, and cortex are functionally connected with increasing degrees of alpha-synuclein pathology in Parkinson's ... ...

    Abstract Detailed analysis of disease-affected tissue provides insight into molecular mechanisms contributing to pathogenesis. Substantia nigra, striatum, and cortex are functionally connected with increasing degrees of alpha-synuclein pathology in Parkinson's disease. We undertook functional and causal pathway analysis of gene expression and proteomic alterations in these three regions, and the data revealed pathways that correlated with disease progression. In addition, microarray and RNAseq experiments revealed previously unidentified causal changes related to oligodendrocyte function and synaptic vesicle release, and these and other changes were reflected across all brain regions. Importantly, subsets of these changes were replicated in Parkinson's disease blood; suggesting peripheral tissue may provide important avenues for understanding and measuring disease status and progression. Proteomic assessment revealed alterations in mitochondria and vesicular transport proteins that preceded gene expression changes indicating defects in translation and/or protein turnover. Our combined approach of proteomics, RNAseq and microarray analyses provides a comprehensive view of the molecular changes that accompany functional loss and alpha-synuclein pathology in Parkinson's disease, and may be instrumental to understand, diagnose and follow Parkinson's disease progression.
    MeSH term(s) Animals ; Brain/metabolism ; Brain/pathology ; Disease Progression ; Gene Expression Regulation ; Humans ; Microarray Analysis ; Parkinson Disease/metabolism ; Parkinson Disease/pathology ; Proteins/analysis ; Proteins/genetics ; Proteins/metabolism ; Proteomics ; Sequence Analysis, RNA ; Signal Transduction ; alpha-Synuclein/analysis ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism
    Chemical Substances Proteins ; alpha-Synuclein
    Language English
    Publishing date 2014-08-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0102909
    Database MEDical Literature Analysis and Retrieval System OnLINE

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