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  1. Book ; Thesis: Die quergestreifte Schwellkörpermuskulatur des Menschen

    Peikert, Kevin

    Topographie, Morphologie und Klärung der Muskelspindelfrage

    2014  

    Author's details von Kevin Peikert
    Language German
    Size X, 128 Bl. : Ill., graph. Darst.
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dresden, Techn. Univ., Diss., 2014
    HBZ-ID HT018713959
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2015 E 1223 order for loan Magazin

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  2. Article ; Online: VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics.

    Peikert, Kevin / Danek, Adrian

    Contact (Thousand Oaks (Ventura County, Calif.))

    2023  Volume 6, Page(s) 25152564231156994

    Abstract: In 2020, the pandemic interrupted the series of biannual International Neuroacanthocytosis Meetings that brought together clinicians, scientists, and patient groups to share research into a small group of devastating genetic diseases that combine both ... ...

    Abstract In 2020, the pandemic interrupted the series of biannual International Neuroacanthocytosis Meetings that brought together clinicians, scientists, and patient groups to share research into a small group of devastating genetic diseases that combine both acanthocytosis (deformed red blood cells) and neurodegeneration with movement disorders. This Meeting Report describes talks at the 5th
    Language English
    Publishing date 2023-02-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2964312-0
    ISSN 2515-2564 ; 2515-2564
    ISSN (online) 2515-2564
    ISSN 2515-2564
    DOI 10.1177/25152564231156994
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.

    Peikert, Kevin / Hermann, Andreas / Danek, Adrian

    Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie

    2022  Volume 49, Issue 1, Page(s) 4–12

    Abstract: Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the : Summary: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A ... ...

    Abstract Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the
    Summary: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A disease. While there are many similarities, differences such as mode of inheritance, sex distribution, age at manifestation, severity of heart involvement, frequency of feeding dystonia or of involuntary head drops may help to distinguish these disorders in the clinic. Immunohematological demonstration of the McLeod-Kell phenotype or detection of pathogenic mutations of
    Key messages: (1) Patients diagnosed with the rare red cell McLeod phenotype (McLeod syndrome, MLS) require interdisciplinary collaboration of transfusion medicine specialists, neurologists, and cardiologists for both their hematological and nonhematological disease manifestations. (2) The phenotypical similarity of MLS and VPS13A disease, often leading to either confusion or insufficient diagnostic depth (under the label of "neuroacanthocytosis"), is based on interaction of the respective proteins, XK and chorein, within the cellular machinery for bulk lipid transport. (3) Overall, the term "bulk lipid transport diseases" seems useful for further research on a group of conditions that may not only share pathophysiology, but may also share treatment approaches.
    Language English
    Publishing date 2022-01-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2100848-6
    ISSN 1660-3818 ; 1660-3796
    ISSN (online) 1660-3818
    ISSN 1660-3796
    DOI 10.1159/000521417
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 959: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Neuroacanthocytosis Syndromes: The Clinical Perspective.

    Walker, Ruth H / Peikert, Kevin / Jung, Hans H / Hermann, Andreas / Danek, Adrian

    Contact (Thousand Oaks (Ventura County, Calif.))

    2023  Volume 6, Page(s) 25152564231210339

    Abstract: The two very rare neurodegenerative diseases historically known as the "neuroacanthocytosis syndromes" are due to mutations of ... ...

    Abstract The two very rare neurodegenerative diseases historically known as the "neuroacanthocytosis syndromes" are due to mutations of either
    Language English
    Publishing date 2023-12-10
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2964312-0
    ISSN 2515-2564 ; 2515-2564
    ISSN (online) 2515-2564
    ISSN 2515-2564
    DOI 10.1177/25152564231210339
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Commentary: Acanthocytes identified in Huntington's disease.

    Peikert, Kevin / Storch, Alexander / Hermann, Andreas / Landwehrmeyer, G Bernhard / Walker, Ruth H / Simionato, Greta / Kaestner, Lars / Danek, Adrian

    Frontiers in neuroscience

    2022  Volume 16, Page(s) 1049676

    Language English
    Publishing date 2022-11-04
    Publishing country Switzerland
    Document type Journal Article ; Comment
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2022.1049676
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Muscle spindles in the human bulbospongiosus and ischiocavernosus muscles.

    Peikert, Kevin / May, Christian Albrecht

    Muscle & nerve

    2015  Volume 52, Issue 1, Page(s) 55–62

    Abstract: Introduction: Muscle spindles are crucial for neuronal regulation of striated muscles, but their presence and involvement in the superficial perineal muscles is not known.: Methods: Bulbospongiosus and ischiocavernosus muscle specimens were obtained ... ...

    Abstract Introduction: Muscle spindles are crucial for neuronal regulation of striated muscles, but their presence and involvement in the superficial perineal muscles is not known.
    Methods: Bulbospongiosus and ischiocavernosus muscle specimens were obtained from 31 human cadavers. Serial sections were stained with hematoxylin and eosin, Sirius red, antibodies against Podocalyxin, myosin heavy chain isoforms (MyHC-slow tonic, S46; MyHC-2a/2x, A4.74), and neurofilament for the purpose of muscle spindle screening, counting, and characterization.
    Results: A low but consistent number of spindles were detected in both muscles. The muscles contained few intrafusal fibers, but otherwise showed normal spindle morphology. The extrafusal fibers of both muscles were small in diameter.
    Conclusions: The presence of muscle spindles in bulbospongiosus and ischiocavernosus muscles supports physiological models of pelvic floor regulation and may provide a basis for further clinical observations regarding sexual function and micturition. The small number of muscle spindles points to a minor level of proprioceptive regulation.
    MeSH term(s) Aged ; Aged, 80 and over ; Anal Canal/innervation ; Female ; Humans ; Intermediate Filaments/metabolism ; Male ; Muscle Spindles/metabolism ; Muscle, Skeletal/anatomy & histology ; Myosin Heavy Chains/metabolism ; Perineum/innervation ; Sialoglycoproteins/metabolism ; Statistics, Nonparametric
    Chemical Substances Sialoglycoproteins ; podocalyxin ; Myosin Heavy Chains (EC 3.6.4.1)
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.24500
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 551: Show issues

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  7. Article ; Online: Off-Label Treatment of 4 Amyotrophic Lateral Sclerosis Patients With 4-Aminopyridine.

    Peikert, Kevin / Naumann, Marcel / Günther, René / Wegner, Florian / Hermann, Andreas

    Journal of clinical pharmacology

    2019  Volume 59, Issue 10, Page(s) 1400–1404

    Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal disorder characterized by degeneration of the upper and lower motor neuron. Among the at least 25 known genes associated with familial (hereditary) and sporadic ALS, mutations in fused-in-sarcoma (FUS) and ... ...

    Abstract Amyotrophic lateral sclerosis (ALS) is a fatal disorder characterized by degeneration of the upper and lower motor neuron. Among the at least 25 known genes associated with familial (hereditary) and sporadic ALS, mutations in fused-in-sarcoma (FUS) and superoxide dismutase 1 (SOD1) have been extensively investigated in the past years, with emphasis on altered excitability of affected neurons. Recently, we reported on hypoexcitability and increased cell death in a FUS/SOD1-ALS-induced pluripotent stem cell-derived motor neuron model, which was partly reversible by a treatment with the potassium channel blocker 4-aminopyridine (4-AP). Based on this study, we aimed to examine this US Food and Drug Administration-approved drug as a potential individualized treatment for patients with ALS. We therefore retrospectively investigated 4 FUS/SOD1-ALS patients who were prescribed 4-AP. Two patients expressed an improved quality of life due to regain of facial muscle motor function and decreased disease progression rate, respectively. Together with recent pathophysiologic findings, this case series supports the need for clinical trials to examine the efficacy of this potential treatment in distinct ALS subgroups and disease stages.
    MeSH term(s) 4-Aminopyridine/therapeutic use ; Adult ; Aged ; Amyotrophic Lateral Sclerosis/drug therapy ; Amyotrophic Lateral Sclerosis/metabolism ; Female ; Humans ; Male ; Off-Label Use ; Quality of Life ; Retrospective Studies ; Superoxide Dismutase/metabolism ; Young Adult
    Chemical Substances 4-Aminopyridine (BH3B64OKL9) ; Superoxide Dismutase (EC 1.15.1.1)
    Language English
    Publishing date 2019-04-30
    Publishing country England
    Document type Journal Article
    ZDB-ID 188980-1
    ISSN 1552-4604 ; 0091-2700 ; 0021-9754
    ISSN (online) 1552-4604
    ISSN 0091-2700 ; 0021-9754
    DOI 10.1002/jcph.1437
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    Uf I Zs.176: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: MDS criteria for the diagnosis of progressive supranuclear palsy overemphasize Richardson syndrome.

    Frank, Anika / Peikert, Kevin / Linn, Jennifer / Brandt, Moritz D / Hermann, Andreas

    Annals of clinical and translational neurology

    2020  Volume 7, Issue 9, Page(s) 1702–1707

    Abstract: MDS-criteria for clinical diagnosis of progressive supranuclear palsy (PSP) were recently published, their usability in a classical clinical setting is yet unknown. We retrospectively applied the new criteria using PSP patients' case files. Assignment of ...

    Abstract MDS-criteria for clinical diagnosis of progressive supranuclear palsy (PSP) were recently published, their usability in a classical clinical setting is yet unknown. We retrospectively applied the new criteria using PSP patients' case files. Assignment of PSP diagnosis according to the MDS-criteria was possible in 57/80 cases. The main difference to former specialist classification was a lower phenotype diversity and higher representation of PSP-RS. Furthermore, we examined those patients' brain MRIs. While neuroradiologists' reports were suggestive of PSP only in 11/62, the analysis of a blinded rater revealed pathological midbrain-to-pons-ratio in 40/62 implying this imaging feature is often missed.
    MeSH term(s) Accidental Falls ; Aged ; Aged, 80 and over ; Atrophy/pathology ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Mesencephalon/diagnostic imaging ; Mesencephalon/pathology ; Middle Aged ; Pons/diagnostic imaging ; Pons/pathology ; Postural Balance/physiology ; Practice Guidelines as Topic/standards ; Retrospective Studies ; Supranuclear Palsy, Progressive/diagnosis ; Supranuclear Palsy, Progressive/pathology ; Supranuclear Palsy, Progressive/physiopathology
    Language English
    Publishing date 2020-07-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2740696-9
    ISSN 2328-9503 ; 2328-9503
    ISSN (online) 2328-9503
    ISSN 2328-9503
    DOI 10.1002/acn3.51065
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis.

    Peikert, Kevin / Akgün, Katja / Beste, Christian / Ziemssen, Tjalf / Buhmann, Carsten / Danek, Adrian / Hermann, Andreas

    Parkinsonism & related disorders

    2020  Volume 80, Page(s) 28–31

    Abstract: Introduction: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include ... ...

    Abstract Introduction: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage.
    Methods: We studied serum neurofilament light chain (sNfL) of six ChAc patients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroacanthocytosis. sNfL was quantified using single-molecule array analysis.
    Results: sNfL concentration was significantly higher in the ChAc cohort (18.73 pg/ml; IQR 15.65-27.70) compared to both healthy control cohorts (A, 7.37 pg/ml; IQR 5.60-9.05; B, 3.10 pg/ml; IQR 2.43-3.98). In MLS patients, a similar sNfL increase was observed.
    Conclusions: sNfL is significantly increased in ChAc and MLS and seems to reflect neuroaxonal damage in the peripheral as well as the central nervous system.
    MeSH term(s) Adult ; Biomarkers/blood ; Female ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Neuroacanthocytosis/blood ; Neuroacanthocytosis/diagnosis ; Neurofilament Proteins/blood
    Chemical Substances Biomarkers ; Neurofilament Proteins ; neurofilament protein L
    Language English
    Publishing date 2020-09-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2020.09.004
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    Zs.A 4553: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 420: Show issues

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  10. Article ; Online: Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

    Peikert, Kevin / Danek, Adrian / Hermann, Andreas

    European journal of medical genetics

    2017  Volume 61, Issue 11, Page(s) 699–705

    Abstract: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), ... ...

    Abstract Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. The current review focuses upon ChAc as the core entity of NA syndromes caused by mutations in the VPS13A gene. The support of patient organizations and the ERA-NET initiative yielded to different multidisciplinary efforts with significant progress on our understanding of ChAc. Disturbances in two pathways are currently considered to be significantly involved in the pathophysiology of ChAc, namely elevated Lyn kinase phosphorylation and decreased signaling via Phosphoinositide 3-kinase (PI3K). These recent developments may reveal potential drugable targets for causative therapies of ChAc.
    MeSH term(s) Acanthocytes/pathology ; Chorea/blood ; Chorea/genetics ; Chorea/physiopathology ; Cognition Disorders/blood ; Cognition Disorders/genetics ; Cognition Disorders/physiopathology ; Dementia/blood ; Dementia/genetics ; Dementia/physiopathology ; Erythrocytes/pathology ; Heredodegenerative Disorders, Nervous System/blood ; Heredodegenerative Disorders, Nervous System/genetics ; Heredodegenerative Disorders, Nervous System/physiopathology ; Humans ; Neuroacanthocytosis/blood ; Neuroacanthocytosis/genetics ; Neuroacanthocytosis/physiopathology ; Signal Transduction ; Vesicular Transport Proteins/genetics
    Chemical Substances VPS13A protein, human ; Vesicular Transport Proteins
    Language English
    Publishing date 2017-12-16
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2017.12.007
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