Hanns Lochmüller


Ontology type: schema:Person     


Person Info

NAME

Hanns

SURNAME

Lochmüller

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
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