Hanns Lochmüller

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2019-12 SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 GNE myopathy: from clinics and genetics to pathology and research strategies in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial in TRIALS
  • 2018-12 Biochemical and pathological changes result from mutated Caveolin-3 in muscle in SKELETAL MUSCLE
  • 2018-10 Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease in GENETICS IN MEDICINE
  • 2018-06 RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-06 How to Spot Congenital Myasthenic Syndromes Resembling the Lambert–Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features in NEUROMOLECULAR MEDICINE
  • 2018-05 The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-03 A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome in JOURNAL OF NEUROLOGY
  • 2018-01 Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients in JOURNAL OF NEUROLOGY
  • 2017-12 Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne in SCIENTIFIC REPORTS
  • 2017-12 The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-12 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-12 Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2017-07 A multi-source approach to determine SMA incidence and research ready population in JOURNAL OF NEUROLOGY
  • 2017-06 Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2017-05 The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research in JOURNAL OF NEUROLOGY
  • 2017-05 A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-04 Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) in JOURNAL OF NEUROLOGY
  • 2017-04 Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries in JOURNAL OF NEUROLOGY
  • 2017-03 Reduced serum myostatin concentrations associated with genetic muscle disease progression in JOURNAL OF NEUROLOGY
  • 2017-02 Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis in PHARMACOECONOMICS
  • 2017-02 ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017 Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease in RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW
  • 2016-12 Corrigendum: Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics in SCIENTIFIC REPORTS
  • 2016-11 The risk of re-identification versus the need to identify individuals in rare disease research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-10 ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-09 Improving the informed consent process in international collaborative rare disease research: effective consent for effective research in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-07 International Charter of principles for sharing bio-specimens and data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-07 Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry in JOURNAL OF NEUROLOGY
  • 2016-05 Quantifying the burden of caregiving in Duchenne muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2016-04 Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy in SCIENTIFIC REPORTS
  • 2016-03 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors in JOURNAL OF NEUROLOGY
  • 2015-12 Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics in SCIENTIFIC REPORTS
  • 2015-08 Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland in JOURNAL OF NEUROLOGY
  • 2015-06 International Charter of principles for sharing bio-specimens and data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03 Adult care for Duchenne muscular dystrophy in the UK in JOURNAL OF NEUROLOGY
  • 2014-12 UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12 EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia in NATURE COMMUNICATIONS
  • 2014-11 ANO10 mutations cause ataxia and coenzyme Q10 deficiency in JOURNAL OF NEUROLOGY
  • 2014-08 RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research in JOURNAL OF GENERAL INTERNAL MEDICINE
  • 2014-01 Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe in JOURNAL OF NEUROLOGY
  • 2013-12 The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-12 Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-12 A new web-based method for automated analysis of muscle histology in BMC MUSCULOSKELETAL DISORDERS
  • 2012-11 Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD) in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-11 How reference networks develop, implement, and monitor guidelines in ORPHANET JOURNAL OF RARE DISEASES
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
            "affiliation": {
              "id": "https://www.grid.ac/institutes/grid.1006.7", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "https://www.grid.ac/institutes/grid.254444.7", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.4488.0", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.5963.9", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.420419.a", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.416102.0", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.452341.5", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.419328.5", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.411095.8", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.11478.3b", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.7708.8", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.1649.a", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.14709.3b", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.5252.0", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.66859.34", 
            "type": "Organization"
        "familyName": "Lochm\u00fcller", 
        "givenName": "Hanns", 
        "id": "sg:person.015416721437.85", 
        "identifier": {
          "name": "orcid_id", 
          "type": "PropertyValue", 
          "value": [
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T13:34", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_1360.json", 
        "type": "Person"

    Download the RDF metadata as:  json-ld nt turtle xml License info


    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.015416721437.85'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.015416721437.85'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.015416721437.85'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.015416721437.85'


    This table displays all metadata directly associated to this object as RDF triples.

    49 TRIPLES      11 PREDICATES      27 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.015416721437.85 schema:affiliation N1d9ab3bd2ee64f9387df4b98b8794268
    2 https://www.grid.ac/institutes/grid.11478.3b
    3 https://www.grid.ac/institutes/grid.14709.3b
    4 https://www.grid.ac/institutes/grid.1649.a
    5 https://www.grid.ac/institutes/grid.254444.7
    6 https://www.grid.ac/institutes/grid.411095.8
    7 https://www.grid.ac/institutes/grid.416102.0
    8 https://www.grid.ac/institutes/grid.419328.5
    9 https://www.grid.ac/institutes/grid.420419.a
    10 https://www.grid.ac/institutes/grid.4488.0
    11 https://www.grid.ac/institutes/grid.452341.5
    12 https://www.grid.ac/institutes/grid.5252.0
    13 https://www.grid.ac/institutes/grid.5963.9
    14 https://www.grid.ac/institutes/grid.66859.34
    15 https://www.grid.ac/institutes/grid.7708.8
    16 schema:familyName Lochmüller
    17 schema:givenName Hanns
    18 schema:identifier N280a480880e5430c8548bc011c2c395e
    19 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015416721437.85
    20 https://orcid.org/0000-0003-2324-8001
    21 schema:sdDatePublished 2019-03-07T13:34
    22 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    23 schema:sdPublisher Nbc2cdaa836454a0684c8bc65f5c6ad3a
    24 sgo:license sg:explorer/license/
    25 sgo:sdDataset persons
    26 rdf:type schema:Person
    27 N1d9ab3bd2ee64f9387df4b98b8794268 schema:affiliation https://www.grid.ac/institutes/grid.1006.7
    28 sgo:isCurrent true
    29 rdf:type schema:OrganizationRole
    30 N280a480880e5430c8548bc011c2c395e schema:name orcid_id
    31 schema:value 0000-0003-2324-8001
    32 rdf:type schema:PropertyValue
    33 Nbc2cdaa836454a0684c8bc65f5c6ad3a schema:name Springer Nature - SN SciGraph project
    34 rdf:type schema:Organization
    35 https://www.grid.ac/institutes/grid.1006.7 schema:Organization
    36 https://www.grid.ac/institutes/grid.11478.3b schema:Organization
    37 https://www.grid.ac/institutes/grid.14709.3b schema:Organization
    38 https://www.grid.ac/institutes/grid.1649.a schema:Organization
    39 https://www.grid.ac/institutes/grid.254444.7 schema:Organization
    40 https://www.grid.ac/institutes/grid.411095.8 schema:Organization
    41 https://www.grid.ac/institutes/grid.416102.0 schema:Organization
    42 https://www.grid.ac/institutes/grid.419328.5 schema:Organization
    43 https://www.grid.ac/institutes/grid.420419.a schema:Organization
    44 https://www.grid.ac/institutes/grid.4488.0 schema:Organization
    45 https://www.grid.ac/institutes/grid.452341.5 schema:Organization
    46 https://www.grid.ac/institutes/grid.5252.0 schema:Organization
    47 https://www.grid.ac/institutes/grid.5963.9 schema:Organization
    48 https://www.grid.ac/institutes/grid.66859.34 schema:Organization
    49 https://www.grid.ac/institutes/grid.7708.8 schema:Organization

    Preview window. Press ESC to close (or click here)