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  1. Article ; Online: Gene therapy for spinal muscular atrophy.

    Gowda, Vasantha Lakshmi / Jungbluth, Heinz / Wraige, Elizabeth

    Archives of disease in childhood. Education and practice edition

    2023  Volume 108, Issue 5, Page(s) 347–350

    MeSH term(s) Humans ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Genetic Therapy
    Language English
    Publishing date 2023-07-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2148818-6
    ISSN 1743-0593 ; 1743-0585
    ISSN (online) 1743-0593
    ISSN 1743-0585
    DOI 10.1136/archdischild-2023-325359
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    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.106 -E.P.Ed.-: Show issues Location:
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  2. Article ; Online: Gene therapy for X-linked myotubular myopathy: the challenges.

    Voermans, Nicol C / Ferreiro, Ana / Aartsema-Rus, Annemieke / Jungbluth, Heinz

    The Lancet. Neurology

    2023  Volume 22, Issue 12, Page(s) 1089–1091

    MeSH term(s) Humans ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/therapy ; Genetic Therapy
    Language English
    Publishing date 2023-11-10
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 2081241-3
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(23)00416-7
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5955: Show issues Location:
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  3. Article ; Online: "RYR1 and the cerebellum": scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology".

    Jungbluth, Heinz / Famili, Dennis T / Helmich, Rick C / Previtali, Stefano / Voermans, Nicol C

    Acta neuropathologica

    2024  Volume 147, Issue 1, Page(s) 33

    MeSH term(s) Humans ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/metabolism ; Calcium/metabolism ; Tremor/genetics ; Endoplasmic Reticulum/metabolism ; Cerebellum/metabolism ; Sarcoplasmic Reticulum/metabolism ; Muscle, Skeletal/metabolism
    Chemical Substances Ryanodine Receptor Calcium Release Channel ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2024-02-07
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-024-02687-0
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    Ui II Zs.188: Show issues Location:
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  4. Book ; Thesis: Polysomnographische Befunde bei reifen Neugeborenen in Bauch- und Rückenlage

    Jungbluth, Heinz

    ein Beitrag zur Bedeutung der Schlaflage im Rahmen der SID-Prävention

    1996  

    Author's details vorgelegt von Heinz Jungbluth
    Keywords Polysomnography ; Infant, Newborn
    Language German
    Size 85 S. : graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Köln, Univ., Diss., 1996
    HBZ-ID HT007422440
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    97 D 379 order for loan Magazin

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  5. Article ; Online: P17 Case Report of Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis in Adolescent Girl

    Paul Gringras / Heinz Jungbluth / Thomas Rossor / Thomas Maycock / Maria Vanegas

    BMJ Open Respiratory Research, Vol 10, Iss Suppl

    2023  Volume 1

    Keywords Medicine ; R ; Diseases of the respiratory system ; RC705-779
    Language English
    Publishing date 2023-10-01T00:00:00Z
    Publisher BMJ Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  6. Article ; Online: Autophagy--a fundamental cellular mechanism on the verge of clinical translation.

    Jungbluth, Heinz

    Neuropathology and applied neurobiology

    2015  Volume 41, Issue 5, Page(s) 598–600

    MeSH term(s) Autophagy ; Enzyme Replacement Therapy ; Female ; Glycogen Storage Disease Type II/drug therapy ; Glycogen Storage Disease Type II/enzymology ; Humans ; Male ; alpha-Glucosidases/metabolism
    Chemical Substances alpha-Glucosidases (EC 3.2.1.20)
    Language English
    Publishing date 2015-08
    Publishing country England
    Document type Comment ; Editorial
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12230
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    Zs.A 1241: Show issues Location:
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  7. Article ; Online: New treatments in spinal muscular atrophy.

    Gowda, Vasantha Lakshmi / Fernandez-Garcia, Miguel A / Jungbluth, Heinz / Wraige, Elizabeth

    Archives of disease in childhood

    2022  Volume 108, Issue 7, Page(s) 511–517

    Abstract: Spinal muscular atrophy (SMA) is a severe neurodegenerative condition due to recessive mutations in ... ...

    Abstract Spinal muscular atrophy (SMA) is a severe neurodegenerative condition due to recessive mutations in the
    MeSH term(s) United States ; Humans ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/drug therapy ; Muscular Atrophy, Spinal/genetics ; Mutation ; Phenotype
    Language English
    Publishing date 2022-10-31
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 524-1
    ISSN 1468-2044 ; 0003-9888 ; 1359-2998
    ISSN (online) 1468-2044
    ISSN 0003-9888 ; 1359-2998
    DOI 10.1136/archdischild-2021-323605
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    Um IV Zs.106: Show issues Location:
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    Zs.MA 3: Show issues

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  8. Article ; Online: Therapeutic Aspects in Congenital Myopathies.

    Jungbluth, Heinz / Muntoni, Francesco

    Seminars in pediatric neurology

    2019  Volume 29, Page(s) 71–82

    Abstract: The congenital myopathies are a genetically heterogeneous and diverse group of early-onset, nondystrophic neuromuscular disorders. While the originally reported "classical" entities within this group - Central Core Disease, Multiminicore Disease, ... ...

    Abstract The congenital myopathies are a genetically heterogeneous and diverse group of early-onset, nondystrophic neuromuscular disorders. While the originally reported "classical" entities within this group - Central Core Disease, Multiminicore Disease, Nemaline Myopathy, and Centronuclear Myopathy - were defined by the predominant finding on muscle biopsy, "novel" forms with multiple, subtle, and unusual histopathologic features have been described more recently, reflective of an expanding phenotypical spectrum. The main disease mechanisms concern excitation-contraction coupling, intracellular calcium homeostasis, and thin/thick filament interactions. Management to date has been mainly supportive. Therapeutic strategies currently at various stages of exploration include genetic interventions aimed at direct correction of the underlying genetic defect, enzyme replacement therapy, and pharmacologic approaches, either specifically targeting the principal effect of the underlying gene mutation, or addressing its downstream consequences more generally. Clinical trial development is accelerating but will require more robust natural history data and tailored outcome measures.
    MeSH term(s) Disease Management ; Enzyme Replacement Therapy ; Genetic Therapy ; Humans ; Myopathies, Structural, Congenital/drug therapy ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/therapy
    Language English
    Publishing date 2019-01-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2019.01.004
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    Zs.A 4772: Show issues Location:
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  9. Article ; Online: Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.

    Wacker, Julie / Di Bernardo, Stefano / Lobrinus, Johannes Alexander / Jungbluth, Heinz / Gautel, Mathias / Beghetti, Maurice / Fluss, Joel

    Pediatric transplantation

    2023  Volume 27, Issue 6, Page(s) e14561

    Abstract: Background: Mutations in the TTN gene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early-onset skeletal muscle disorders due to recessive TTN mutations have recently been described, sometimes associated ... ...

    Abstract Background: Mutations in the TTN gene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early-onset skeletal muscle disorders due to recessive TTN mutations have recently been described, sometimes associated with cardiomyopathies.
    Case description: We report the case of a boy with congenital core myopathy due to compound heterozygosity for TTN variants. He presented in infancy with rapidly evolving restrictive cardiomyopathy, requiring heart transplantation at the age of 5 years with favorable long-term cardiac and neuromuscular outcome.
    Conclusion: Heart transplantation may have a role in selected patients with TTN-related congenital myopathy with disproportionally severe cardiac presentation compared to skeletal and respiratory muscle involvement.
    MeSH term(s) Male ; Humans ; Child ; Child, Preschool ; Connectin/genetics ; Cardiomyopathy, Restrictive/complications ; Cardiomyopathy, Restrictive/genetics ; Muscular Diseases/genetics ; Mutation ; Heart Transplantation
    Chemical Substances Connectin ; TTN protein, human
    Language English
    Publishing date 2023-06-22
    Publishing country Denmark
    Document type Case Reports
    ZDB-ID 1390284-2
    ISSN 1399-3046 ; 1397-3142
    ISSN (online) 1399-3046
    ISSN 1397-3142
    DOI 10.1111/petr.14561
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    Zs.A 4947: Show issues Location:
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  10. Article ; Online: Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.

    Famili, Dennis T / Fernandez-Garcia, Miguel A / Vanegas, Maria / Goldberg, Michael F / Voermans, Nicol / Quinlivan, Ros / Jungbluth, Heinz

    Neuromuscular disorders : NMD

    2023  Volume 33, Issue 11, Page(s) 866–872

    Abstract: Compartment syndrome (CS) is a medical emergency that occurs secondary to excessively high pressures within a confined fibro-osseous space, resulting in reduced perfusion and subsequent tissue injury. CS can be divided into acute forms, most commonly due ...

    Abstract Compartment syndrome (CS) is a medical emergency that occurs secondary to excessively high pressures within a confined fibro-osseous space, resulting in reduced perfusion and subsequent tissue injury. CS can be divided into acute forms, most commonly due to trauma and considered an orthopaedic emergency, and chronic forms, most commonly presenting in athletes with recurrent exercise-induced pain. Downstream pathophysiological mechanisms are complex but do share commonalities with mechanisms implicated in genetic neuromuscular disorders. Here we present 3 patients with recurrent CS in the context of a RYR1-related disorder (n = 1) and PYGM-related McArdle disease (n = 2), two of whom presented many years before the diagnosis of an underlying neuromuscular disorder was suspected. We also summarize the literature on previously published cases with CS in the context of a genetically confirmed neuromuscular disorder and outline how the calcium signalling alterations in RYR1-related disorders and the metabolic abnormalities in McArdle disease may feed into CS-causative mechanisms. These findings expand the phenotypical spectrum of RYR1-related disorders and McArdle disease; whilst most forms of recurrent CS will be sporadic, above and other genetic backgrounds ought to be considered in particular in patients where other suggestive clinical features are present.
    MeSH term(s) Humans ; Glycogen Storage Disease Type V/diagnosis ; Ryanodine Receptor Calcium Release Channel/genetics ; Compartment Syndromes/etiology ; Compartment Syndromes/genetics ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/complications ; Fibromyalgia/complications
    Chemical Substances Ryanodine Receptor Calcium Release Channel
    Language English
    Publishing date 2023-09-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2023.09.007
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