LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 356

Search options

  1. Book: Applications of MRI in muscle diseases

    Straub, Volker

    (Neuromuscular disorders ; 22,S2 = Suppl.)

    2012  

    Author's details guest ed. Volker Straub
    Series title Neuromuscular disorders ; 22,S2 = Suppl.
    Collection
    Language English
    Size S. S41 - S154 : Ill., graph. Darst.
    Publisher Elsevier
    Publishing place Amsterdam u.a.
    Publishing country Netherlands
    Document type Book
    HBZ-ID HT017406965
    Database Catalogue ZB MED Medicine, Health

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 3258 -22,S2- not available for loan Zeitschriften-Lesesaal

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: An update on Becker muscular dystrophy.

    Straub, Volker / Guglieri, Michela

    Current opinion in neurology

    2023  Volume 36, Issue 5, Page(s) 450–454

    Abstract: Purpose of review: The purpose of this review is to summarise the recent developments in trial readiness, natural history studies, and interventional clinical trials for Becker muscular dystrophy (BMD).: Recent findings: As several treatment concepts ...

    Abstract Purpose of review: The purpose of this review is to summarise the recent developments in trial readiness, natural history studies, and interventional clinical trials for Becker muscular dystrophy (BMD).
    Recent findings: As several treatment concepts have claimed to convert patients with Duchenne muscular dystrophy (DMD) into a BMD phenotype, BMD itself has moved into the focus of clinical research. Natural history studies have helped to better characterize patients with BMD and the disease is now a target for interventional trials. In parallel, there have been advances in diagnostics and in the development of preclinical models.
    Summary: Despite increased collaborative efforts to improve trial readiness amongst patients with BMD, there is still a lack of long-term natural history data, and the broad spectrum of disease severity remains a challenge for well designed clinical trials.
    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Phenotype ; Research Design
    Language English
    Publishing date 2023-08-21
    Publishing country England
    Document type Review ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001191
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2524: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.

    Muntoni, Francesco / Straub, Volker / Servais, Laurent / Mercuri, Eugenio

    Journal of neuromuscular diseases

    2023  Volume 10, Issue 6, Page(s) 1151–1153

    MeSH term(s) Humans ; Male ; Muscular Dystrophy, Duchenne ; Oligonucleotides ; Clinical Trials, Phase II as Topic
    Chemical Substances Oligonucleotides ; viltolarsen (SXA7YP6EKX)
    Language English
    Publishing date 2023-11-12
    Publishing country Netherlands
    Document type Letter
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-239004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Intellectual disability in paediatric patients with genetic muscle diseases.

    Specht, Sabine / Straub, Volker

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 10, Page(s) 988–997

    Abstract: The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. Where classifications based on the clinical picture were attributed to one gene only a few years ago, ... ...

    Abstract The differential diagnosis of genetic muscle disease has become increasingly difficult due to the rapid progress in genetic medicine in recent years. Where classifications based on the clinical picture were attributed to one gene only a few years ago, today we know that a variety of clinical presentations can result from the same mutation and, conversely, various genes are associated with a similar phenotype. A significant consideration in assessing a patient with muscle weakness is the presence or absence of intellectual disability, thus narrowing the differential diagnostic approach in any child with an as yet undiagnosed muscle disease. Intellectual disability in neuromuscular diseases is often associated with behavioural disorders and may be correlated with abnormal brain imaging. Conversely, brain involvement can sometimes be seen without intellectual disability, but may be associated with an epilepsy risk and is helpful for the differential diagnosis. This review focuses on the three most common causes of paediatric muscle diseases with intellectual disability, dystrophinopathies, myotonic dystrophy type 1 and dystroglycanopathies. It also summarises differential diagnostic considerations when assessing a child with a genetic muscle disease and intellectual disability. The recent scientific literature on this topic is reviewed, the frequency of intellectual disability assessed, and specific clinical features are described. Where available, data on disease onset, progression and serum creatine kinase levels are presented and the pattern of muscle involvement described in an algorithm. Central nervous involvement and brain imaging analysis was reviewed and included.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Intellectual Disability/complications ; Male ; Muscle Weakness/etiology ; Muscular Dystrophies/diagnosis ; Mutation ; Myotonic Dystrophy/diagnosis ; Phenotype
    Language English
    Publishing date 2021-07-24
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.08.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Book ; Thesis: Lokalisation und subzelluläre Verteilung von Dystrophin in Skelettmuskelfasern

    Straub, Volker

    1995  

    Author's details vorgelegt von Volker Straub
    Language German
    Size 81 Bl. : Ill.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Düsseldorf, Univ., Diss., 1995
    HBZ-ID HT006595712
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    95 E 1193 order for loan Magazin

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands.

    Guglieri, Michela / Díaz-Manera, Jordi / Straub, Volker

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 9, Page(s) 899–906

    Language English
    Publishing date 2021-07-07
    Publishing country England
    Document type Clinical Conference
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.06.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Bones and muscular dystrophies: what do we know?

    Wood, Claire L / Straub, Volker

    Current opinion in neurology

    2018  Volume 31, Issue 5, Page(s) 583–591

    Abstract: Purpose of review: Muscle and bone are intrinsically linked, and therefore, it is not surprising that many muscular dystrophies are associated with impaired bone health and increased risk of osteoporosis. Osteoporotic fracture is an important and ... ...

    Abstract Purpose of review: Muscle and bone are intrinsically linked, and therefore, it is not surprising that many muscular dystrophies are associated with impaired bone health and increased risk of osteoporosis. Osteoporotic fracture is an important and preventable cause of morbidity and mortality. This article will firstly review the general causes of impaired bone health in muscular dystrophies and then focus on the evidence available for the diagnosis and treatment of osteoporosis in specific conditions.
    Recent findings: With the exception of DMD, there is a paucity of data regarding bone health in muscular dystrophies. However, it appears that in common with all types of muscular dystrophies that cause a significant level of muscle weakness and disability there is an increased risk of falls, fractures and decreased vitamin D levels. A better understanding of the extent of the impaired bone health and underlying causes could help to identify potential new therapeutic agents and aid clinical care.
    Summary: It would be prudent for clinicians to assess fracture risk in their muscular dystrophy patients and if appropriate, arrange surveillance and recommend vitamin D supplementation. Additionally, fracture should be considered in any patient presenting with new-onset bone pain.
    MeSH term(s) Bone Diseases/etiology ; Bone Diseases/therapy ; Bone and Bones/pathology ; Humans ; Muscular Dystrophies/complications ; Muscular Dystrophies/etiology ; Muscular Dystrophies/pathology ; Muscular Dystrophies/therapy ; Osteoporotic Fractures/epidemiology ; Osteoporotic Fractures/etiology ; Risk Assessment
    Language English
    Publishing date 2018-08-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000000603
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2524: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30-31 January 2017.

    Straub, Volker / Mercuri, Eugenio

    Neuromuscular disorders : NMD

    2018  Volume 28, Issue 8, Page(s) 690–701

    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne ; Outcome Assessment (Health Care)
    Language English
    Publishing date 2018-06-06
    Publishing country England
    Document type Congress ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2018.05.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Skeletal muscle magnetic resonance imaging in Pompe disease.

    Díaz-Manera, Jordi / Walter, Glenn / Straub, Volker

    Muscle & nerve

    2020  Volume 63, Issue 5, Page(s) 640–650

    Abstract: Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability. There is an approved therapy based on enzymatic replacement that has modified disease progression. Several ... ...

    Abstract Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability. There is an approved therapy based on enzymatic replacement that has modified disease progression. Several reports describing muscle magnetic resonance imaging (MRI) features of Pompe patients have been published. Most of the studies have focused on late-onset Pompe disease (LOPD) and identified a characteristic pattern of muscle involvement useful for the diagnosis. In addition, quantitative MRI studies have shown a progressive increase in fat in skeletal muscles of LOPD over time and they are increasingly considered a good tool to monitor progression of the disease. The studies performed in infantile-onset Pompe disease patients have shown less consistent changes. Other more sophisticated muscle MRI sequences, such as diffusion tensor imaging or glycogen spectroscopy, have also been used in Pompe patients and have shown promising results.
    MeSH term(s) Glycogen Storage Disease Type II/diagnostic imaging ; Humans ; Magnetic Resonance Imaging/methods ; Muscle, Skeletal/diagnostic imaging
    Language English
    Publishing date 2020-11-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.27099
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    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

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients.

    De Ridder, Willem / De Jonghe, Peter / Straub, Volker / Baets, Jonathan

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 11, Page(s) 1154–1160

    Abstract: Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have been ... ...

    Abstract Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have been described too. We systematically studied (para)clinical and histopathological findings in a cohort of 18 isolated yet suspected inherited myopathy patients, showing late-onset, slowly progressive limb-girdle muscle weakness, remaining unsolved after whole-exome sequencing. The presence of a monoclonal gammopathy of unknown significance (MGUS) and anti-HMGCR antibodies was determined. Biopsies were systematically re-evaluated and systematic immunohistochemical and electron microscopy studies were performed to particularly evaluate the presence of rods and/or inflammatory features. Ten patients showed rods as core feature on muscle biopsy on re-evaluation, four of these had an IgG κ MGUS in blood. As such, these ten patients represented suspected slowly progressing SLONM patients, with auxiliary data supporting this diagnosis: 1) additional muscle biopsy features pointing towards Z-disk and myofibrillar pathology; 2) a common selective pattern of muscle involvement on MRI; 3) inflammatory features on muscle biopsy. Findings in this proof-of-concept study highlight difficulties in reliably diagnosing slowly progressing SLONM and the probably underestimated prevalence of this entity in cohorts of whole exome sequencing negative myopathy patients, initially considered having an inherited myopathy.
    MeSH term(s) Aged ; Cohort Studies ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Monoclonal Gammopathy of Undetermined Significance/epidemiology ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology ; Myopathies, Nemaline/epidemiology ; Prevalence ; Proof of Concept Study ; Whole Exome Sequencing
    Language English
    Publishing date 2021-05-14
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.04.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top