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  1. Article ; Online: Pre-symptomatic spinal muscular atrophy: a proposed nosology.

    Finkel, Richard S / Benatar, Michael

    Brain : a journal of neurology

    2022  Volume 145, Issue 7, Page(s) 2247–2249

    MeSH term(s) Humans ; Muscular Atrophy, Spinal/genetics
    Language English
    Publishing date 2022-04-16
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awac125
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  2. Article ; Online: Friend or Foe(tal): challenges in development of a large animal model for pre-clinical fetal gene therapy.

    Finkel, Richard S / Lorson, Christian L

    Gene therapy

    2022  Volume 29, Issue 6, Page(s) 316–318

    MeSH term(s) Animals ; Disease Models, Animal ; Female ; Genetic Therapy ; Humans ; Pregnancy ; Prenatal Care
    Language English
    Publishing date 2022-03-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 1191036-7
    ISSN 1476-5462 ; 0969-7128
    ISSN (online) 1476-5462
    ISSN 0969-7128
    DOI 10.1038/s41434-022-00327-4
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  3. Book: Swaiman's pediatric neurology

    Swaiman, Kenneth F. / Ashwal, Stephen / Ferriero, Donna M. / Schor, Nina Felice / Finkel, Richard S. / Gropman, Andrea L. / Pearl, Phillip L. / Shevell, Michael I.

    principles and practice

    2018  

    Title variant Pediatric neurology
    Author's details Kenneth F. Swaiman, Stephen Ashwal, Donna M. Ferriero, Nina F. Schor, Richard S. Finkel, Andrea L. Gropman, Phillipp L. Pearl, Michael I. Shevell
    Language English
    Size XXVI, 1403 Seiten, Illustrationen, Diagramme
    Edition Sixth edition
    Publisher Elsevier
    Publishing place Edingburgh
    Publishing country Great Britain
    Document type Book
    Note Frühere Auflagen mehrbändig
    HBZ-ID HT019346312
    ISBN 978-0-323-37101-8 ; 0-323-37101-9
    Database Catalogue ZB MED Medicine, Health

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  4. Article ; Online: Maybe too much of a good thing in gene therapy.

    Finkel, Richard S / Fischbeck, Kenneth H

    Nature neuroscience

    2021  Volume 24, Issue 7, Page(s) 901–902

    MeSH term(s) Genetic Therapy
    Language English
    Publishing date 2021-06-12
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1420596-8
    ISSN 1546-1726 ; 1097-6256
    ISSN (online) 1546-1726
    ISSN 1097-6256
    DOI 10.1038/s41593-021-00882-w
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  5. Article ; Online: A review of economic issues for gene-targeted therapies: Value, affordability, and access.

    Garrison, Louis P / Lo, Andrew W / Finkel, Richard S / Deverka, Patricia A

    American journal of medical genetics. Part C, Seminars in medical genetics

    2023  Volume 193, Issue 1, Page(s) 64–76

    Abstract: The National Center for Advancing Translational Sciences' virtual 2021 conference on gene-targeted therapies (GTTs) encouraged multidisciplinary dialogue on a wide range of GTT topic areas. Each of three parallel working groups included social scientists ...

    Abstract The National Center for Advancing Translational Sciences' virtual 2021 conference on gene-targeted therapies (GTTs) encouraged multidisciplinary dialogue on a wide range of GTT topic areas. Each of three parallel working groups included social scientists and clinical scientists, and the three major sessions included a presentation on economic issues related to their focus area. These experts also coordinated their efforts across the three groups. The economics-related presentations covered three areas with some overlap: (1) value assessment, uncertainty, and dynamic efficiency; (2) affordability, pricing, and financing; and (3) evidence generation, coverage, and access. This article provides a synopsis of three presentations, some of their key recommendations, and an update on related developments in the past year. The key high-level findings are that GTTs present unique data and policy challenges, and that existing regulatory, health technology assessment, as well as payment and financing systems will need to adapt. But these adjustments can build on our existing foundation of regulatory and incentive systems for innovation, and much can be done to accelerate progress in GTTs. Given the substantial unmet medical need that exists for these oft-neglected patients suffering from rare diseases, it would be a tragedy to not leverage these exciting scientific advances in GTTs.
    MeSH term(s) Humans ; Costs and Cost Analysis ; Rare Diseases
    Language English
    Publishing date 2023-02-28
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32037
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  6. Article ; Online: Therapy for Spinal Muscular Atrophy.

    Finkel, Richard S / Farwell, Wildon

    The New England journal of medicine

    2018  Volume 378, Issue 5, Page(s) 487–488

    MeSH term(s) Humans ; Muscular Atrophy, Spinal ; Spinal Muscular Atrophies of Childhood
    Language English
    Publishing date 2018--01
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc1715769
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  7. Article: Editorial: Spinal Muscular Atrophy: Evolutions and Revolutions of Modern Therapy.

    Finkel, Richard S / Schara-Schmidt, Ulrike / Hagenacker, Tim

    Frontiers in neurology

    2020  Volume 11, Page(s) 783

    Language English
    Publishing date 2020-07-28
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2020.00783
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  8. Article ; Online: Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I.

    Finkel, Richard S

    Neuromuscular disorders : NMD

    2013  Volume 23, Issue 2, Page(s) 112–115

    Abstract: A term infant, at familial risk for spinal muscular atrophy (SMA), had the diagnosis genetically confirmed on day 3 of life. Clinical evaluation, the CHOP INTEND motor scale and the CMAP amplitude were obtained on days 5 (pre-symptomatic), 20 (mildly ... ...

    Abstract A term infant, at familial risk for spinal muscular atrophy (SMA), had the diagnosis genetically confirmed on day 3 of life. Clinical evaluation, the CHOP INTEND motor scale and the CMAP amplitude were obtained on days 5 (pre-symptomatic), 20 (mildly weak), 34 (moderately weak) and 63 (severely weak). Palliative care was provided and he expired of an acute pulmonary infection on day 81. The CMAP amplitude and INTEND scores were initially in the normal range, then followed a corresponding decline to a nadir at day 34 and remained so at the 4th assessment. A log-transformed plot of CMAP amplitude from days 5-34 was linear. These data suggest that early motor neuron loss in SMA type I may be logarithmic and demonstrates that the INTEND motor scale closely follows the CMAP electrophysiological biomarker. This single case report supports the consideration that early intervention with a potential therapy is necessary, before the pool of functional motor neurons has plummeted. Further study of these parameters in pre-symptomatic infants with SMA type I will help guide the design of future intervention studies.
    MeSH term(s) Action Potentials/physiology ; Electrophysiological Phenomena/physiology ; Fatal Outcome ; Humans ; Infant, Newborn ; Male ; Motor Activity/physiology ; Palliative Care ; Spinal Muscular Atrophies of Childhood/physiopathology ; Spinal Muscular Atrophies of Childhood/therapy
    Language English
    Publishing date 2013-02
    Publishing country England
    Document type Case Reports ; 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.2012.09.006
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  9. Article: The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax.

    Navas Nazario, Aledie / Cooper, Felicia I / Weber-Guzman, Fabiola / Finkel, Richard S

    Cureus

    2022  Volume 14, Issue 6, Page(s) e25961

    Abstract: We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy (UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on a piece of meat. She received two chest tubes (pigtails) that resolved the ... ...

    Abstract We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy (UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on a piece of meat. She received two chest tubes (pigtails) that resolved the pneumothorax. She was discharged in stable condition, and a chest radiograph two weeks later showed total resolution of the pneumothorax. Two months after this episode, the patient presented with another small, right-sided pneumothorax that shortly progressed to extension throughout the right side of the chest. These pneumothoraces were treated with three different pigtails, but this intervention was ineffective. Providers chose to utilize an autologous blood patch, which is an injection of the patient's own blood instilled in the pleural cavity through a chest drain. The blood forms a clot and subsequently seals the lung tissues through inflammation. This technique was chosen because the patient had advanced neuromuscular weakness with chronic respiratory failure. Also, our patient was not a candidate for chemical or surgical pleurodesis due to the nature of the persistent pneumothorax and the underlying lung fibrosis and collagen defect. Subsequent reaccumulation of the pneumothorax led to a second blood patch procedure, which proved effective. The patient recovered and was discharged in stable condition with no further episodes of pneumothorax over the subsequent 14 months from the initial episode.
    Language English
    Publishing date 2022-06-15
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.25961
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  10. Article ; Online: Spinal muscular atrophy.

    Mercuri, Eugenio / Sumner, Charlotte J / Muntoni, Francesco / Darras, Basil T / Finkel, Richard S

    Nature reviews. Disease primers

    2022  Volume 8, Issue 1, Page(s) 52

    Abstract: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard- ... ...

    Abstract Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few decades. However, improved understanding of the pathogenetic mechanisms of SMA has led to the development of different therapeutic approaches. Three treatments that increase SMN expression by distinct molecular mechanisms, administration routes and tissue biodistributions have received regulatory approval with others in clinical development. The advent of the new therapies is redefining standards of care as in many countries most patients are treated with one of the new therapies, leading to the identification of emerging new phenotypes of SMA and a renewed characterization of demographics owing to improved patient survival.
    MeSH term(s) Humans ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Mutation ; Phenotype
    Language English
    Publishing date 2022-08-04
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2056-676X
    ISSN (online) 2056-676X
    DOI 10.1038/s41572-022-00380-8
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