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  1. Article: A fleeting glimpse of functional benefit of the complete

    Hoffman, Eric P

    Molecular therapy. Nucleic acids

    2023  Volume 33, Page(s) 938–940

    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type News
    ZDB-ID 2662631-7
    ISSN 2162-2531
    ISSN 2162-2531
    DOI 10.1016/j.omtn.2023.08.006
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  2. Book: Genetic and molecular aspects of sport performance

    Bouchard, Claude / Hoffman, Eric P.

    (Encyclopaedia of sports medicine ; 18 ; An IOC Medical Commission publication)

    2011  

    Institution Internationales Olympisches Komitee / Medical Commission
    Author's details IOC Medical Commission. Ed. by Claude Bouchard ; Eric P. Hoffman
    Series title Encyclopaedia of sports medicine ; 18
    An IOC Medical Commission publication
    Collection
    Keywords Athletic Performance / physiology ; Genetic Phenomena ; Sports Medicine / methods
    Language English
    Size XIV, 404 S. : Ill., graph. Darst.
    Publisher Wiley-Blackwell
    Publishing place Chichester u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT016297217
    ISBN 978-1-4443-3445-6 ; 1-4443-3445-X
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2011 A 420 order for loan Magazin

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  3. Article ; Online: Reply to F. Muntoni et al.: "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.

    Clemens, Paula R / Hoffman, Eric P

    Journal of neuromuscular diseases

    2023  Volume 10, Issue 6, Page(s) 1155–1157

    Language English
    Publishing date 2023-11-13
    Publishing country Netherlands
    Document type Clinical Trial, Phase II ; Letter
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-239005
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  4. Article ; Online: Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies.

    Hoffman, Eric P

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

    2020  Volume 39, Issue 4, Page(s) 179–186

    Abstract: Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no dystrophin is ... ...

    Abstract Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no dystrophin is produced (typically < 3% normal levels). Clinically, Becker muscular dystrophy is extremely variable, from slightly milder than DMD, to asymptomatic hyperCKemia at old age. The factors driving clinical variability in Becker muscular dystrophy have now been studied in some depth, and the findings are likely highly relevant to anticipated clinical findings in exon skipping therapy in DMD. The specific mutations in Becker dystrophy play an important role, and clinical variability is less with high frequency mutations (deletions exons 45-47, 45-48). The percentage of dystrophin content in patient muscle is not well-correlated with clinical findings. Muscle MRI findings (degree of fibrofatty replacement) are very well-correlated with the degree of patient disability, regardless of mutation or muscle dystrophin content. Taken together, data to date suggest that the main determinant driving clinical disability in Becker dystrophy patients is the degree of fibrofatty replacement in muscle. Thus, as with DMD, DMD gene mutations and resulting dystrophin protein abnormalities initiate the disease process, but downstream tissue pathophysiology plays a dominant role in disease progression. Factors influencing the age-dependent rate of fibrofatty replacement of muscles are responsible for much of the clinical variability seen in Becker dystrophy, as well as Duchenne dystrophy. These fibrosis-related factors include genetic modifiers, degree of muscle inflammation, and induction of microRNAs in muscle that bind to dystrophin mRNA and down-regulate dystrophin protein content in patient muscle. Studies to date regarding clinical variability in Becker dystrophy suggest that exon skipping therapy in DMD may show variable efficacy from patient to patient.
    MeSH term(s) Exons ; Genetic Therapy ; Humans ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy
    Language English
    Publishing date 2020-12-01
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2102328-1
    ISSN 2532-1900 ; 1128-2460
    ISSN (online) 2532-1900
    ISSN 1128-2460
    DOI 10.36185/2532-1900-020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6694: Show issues Location:
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  5. Article ; Online: The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene.

    Hoffman, Eric P

    The FEBS journal

    2020  Volume 287, Issue 18, Page(s) 3879–3887

    Abstract: Duchenne muscular dystrophy was a well-established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of ... ...

    Abstract Duchenne muscular dystrophy was a well-established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of muscle wasting? What was wrong with the muscle? The identification of the first fragments of DMD gene cDNA in 1986, prediction of the entire 3685 amino acid protein sequence, and production of antibodies to dystrophin, both in 1987, provided key tools to understand DMD genetics and molecular pathology. The identification of dystrophin nucleated extensive research on myofiber membrane cytoskeleton, membrane repair, muscle regeneration, and failure of regeneration. This in turn led to molecular therapeutics based on understanding of dystrophin structure and function. This historical perspective describes the events surrounding the initial identification of the dystrophin protein.
    MeSH term(s) Animals ; Chromosomes, Human, X/genetics ; Disease Models, Animal ; Dystrophin/genetics ; Dystrophin/metabolism ; Genetic Predisposition to Disease/genetics ; Humans ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/therapy ; Mutation ; Phenotype
    Chemical Substances Dystrophin
    Language English
    Publishing date 2020-07-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2173655-8
    ISSN 1742-4658 ; 1742-464X
    ISSN (online) 1742-4658
    ISSN 1742-464X
    DOI 10.1111/febs.15466
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 260: 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)

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  6. Article: Pharmacotherapy of Duchenne Muscular Dystrophy.

    Hoffman, Eric P

    Handbook of experimental pharmacology

    2019  Volume 261, Page(s) 25–37

    Abstract: Drug development and pharmacotherapy of rare pediatric diseases have significantly expanded over the last decade, in part due to incentives and financial support provided by governments, regulators, and nonprofit foundations. Duchenne muscular dystrophy ( ...

    Abstract Drug development and pharmacotherapy of rare pediatric diseases have significantly expanded over the last decade, in part due to incentives and financial support provided by governments, regulators, and nonprofit foundations. Duchenne muscular dystrophy (DMD) is among the most common rare pediatric disorders, and clinical trials of therapeutic approaches have seen dramatic expansion. Pharmacotherapeutic standard of care has been limited to off-label prescription of high-dose, daily corticosteroids (prednisone, deflazacort). Deflazacort received FDA approval for DMD in 2016, although the price increases associated with formal FDA approval and the severe side effects associated with corticosteroid use have limited patient/physician uptake and insurance coverage in the USA. In Europe, EMA has given conditional marketing authorization for prescription of Translarna (a stop codon read-through drug prescribed to ~10% of DMD patients), although there is not yet evidence of clinical efficacy. The FDA awarded conditional approval to etiplirsen, an exon-skipping oligonucleotide drug, based on accelerated pathways (increased dystrophin production in patient muscle). Evidence of clinical efficacy remains the focus of post-marketing studies. There are many innovative pharmacotherapies under clinical development for DMD (Phase I, II, and III clinical trials). All are "disease modifying" in the sense that none seek to replace the full-length, normal DMD gene or dystrophin protein, but instead either seek to introduce an abnormal "Becker-like" version of the gene or protein or target pathophysiological pathways downstream of the primary defect. It is envisioned that the most significant benefit to DMD patients will be through multidrug approaches simultaneously aiming to introduce partially functional dystrophin in patient muscle while also targeting both chronic inflammation and the fibrofatty replacement of muscle.
    MeSH term(s) Adrenal Cortex Hormones/genetics ; Adrenal Cortex Hormones/metabolism ; Adrenal Cortex Hormones/pharmacology ; Child ; Dystrophin/genetics ; Dystrophin/metabolism ; Dystrophin/physiology ; Exons/physiology ; Humans ; Muscular Dystrophy, Duchenne
    Chemical Substances Adrenal Cortex Hormones ; Dystrophin
    Language English
    Publishing date 2019-08-02
    Publishing country Germany
    Document type Clinical Trial ; Journal Article
    ISSN 0171-2004
    ISSN 0171-2004
    DOI 10.1007/164_2019_256
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    In stock of ZB MED Cologne/Königswinter

    Sign. bis Bd. 125 (1997): 1982 A 2146: Show issues
     danach: Sign. bei den Einzelbänden: Show issues

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  7. Article ; Online: Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

    Bello, Luca / Hoffman, Eric P / Pegoraro, Elena

    Nature reviews. Neurology

    2023  Volume 19, Issue 7, Page(s) 410–423

    Abstract: Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect (dystrophin deficiency). Factors contributing to this clinical variability include allelic heterogeneity ( ...

    Abstract Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect (dystrophin deficiency). Factors contributing to this clinical variability include allelic heterogeneity (specific DMD mutations), genetic modifiers (trans-acting genetic polymorphisms) and variations in clinical care. Recently, a series of genetic modifiers have been identified, mostly involving genes and/or proteins that regulate inflammation and fibrosis - processes increasingly recognized as being causally linked with physical disability. This article reviews genetic modifier studies in DMD to date and discusses the effect of genetic modifiers on predicting disease trajectories (prognosis), clinical trial design and interpretation (inclusion of genotype-stratified subgroup analyses) and therapeutic approaches. The genetic modifiers identified to date underscore the importance of progressive fibrosis, downstream of dystrophin deficiency, in driving the disease process. As such, genetic modifiers have shown the importance of therapies aimed at slowing this fibrotic process and might point to key drug targets.
    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/genetics ; Dystrophin/genetics ; Prognosis ; Genotype ; Fibrosis
    Chemical Substances Dystrophin
    Language English
    Publishing date 2023-06-12
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2491514-2
    ISSN 1759-4766 ; 1759-4758
    ISSN (online) 1759-4766
    ISSN 1759-4758
    DOI 10.1038/s41582-023-00823-0
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    Zs.A 6257: Show issues Location:
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  8. Article ; Online: Concerns Regarding Therapeutic Implications of Very Low-Level Dystrophin.

    Hoffman, Eric P / Clemens, Paula R

    Annals of neurology

    2021  Volume 90, Issue 1, Page(s) 176

    MeSH term(s) Dystrophin/genetics ; Genetic Therapy ; Humans ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy
    Chemical Substances Dystrophin
    Language English
    Publishing date 2021-05-11
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26097
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    Zs.A 1370: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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    Zs.MO 478: Show issues

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  9. Article: The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene

    Hoffman, Eric P

    FEBS journal. 2020 Sept., v. 287, no. 18

    2020  

    Abstract: Duchenne muscular dystrophy was a well‐established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of ... ...

    Abstract Duchenne muscular dystrophy was a well‐established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of muscle wasting? What was wrong with the muscle? The identification of the first fragments of DMD gene cDNA in 1986, prediction of the entire 3685 amino acid protein sequence, and production of antibodies to dystrophin, both in 1987, provided key tools to understand DMD genetics and molecular pathology. The identification of dystrophin nucleated extensive research on myofiber membrane cytoskeleton, membrane repair, muscle regeneration, and failure of regeneration. This in turn led to molecular therapeutics based on understanding of dystrophin structure and function. This historical perspective describes the events surrounding the initial identification of the dystrophin protein.
    Keywords amino acid sequences ; amino acids ; childhood ; cytoskeleton ; dystrophin ; genes ; muscle development ; muscles ; muscular dystrophy ; mutation rate ; prediction ; therapeutics
    Language English
    Dates of publication 2020-09
    Size p. 3879-3887.
    Publishing place John Wiley & Sons, Ltd
    Document type Article
    Note NAL-AP-2-clean ; JOURNAL ARTICLE
    ZDB-ID 2173655-8
    ISSN 1742-4658 ; 1742-464X
    ISSN (online) 1742-4658
    ISSN 1742-464X
    DOI 10.1111/febs.15466
    Database NAL-Catalogue (AGRICOLA)

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    Z 2006/704: Show issues

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  10. Article ; Online: Exon-Skipping in Duchenne Muscular Dystrophy.

    Takeda, Shin'ichi / Clemens, Paula R / Hoffman, Eric P

    Journal of neuromuscular diseases

    2021  Volume 8, Issue s2, Page(s) S343–S358

    Abstract: Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the ... ...

    Abstract Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD. Over the course of the last 30 years, the research that supports this development has moved into the realm of clinical trials and regulatory drug approvals. Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the clinical development of exon skipping for the treatment of DMD. In addition to the generation of clinical treatments that are being used for patient care, this research sets the stage for future therapeutic development with a focus on increasing efficacy while providing safety and addressing the multi-systemic aspects of DMD.
    MeSH term(s) Dystrophin ; Exons/genetics ; Genetic Therapy/methods ; Humans ; Muscular Dystrophy, Duchenne/therapy ; Mutation ; Oligonucleotides, Antisense/therapeutic use
    Chemical Substances DMD protein, human ; Dystrophin ; Oligonucleotides, Antisense
    Language English
    Publishing date 2021-06-26
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-210682
    Database MEDical Literature Analysis and Retrieval System OnLINE

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