Rezultati - Hanns Lochmüller

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  1. 1
    Therapeutic Strategies in Congenital Myasthenic Syndromes

    Therapeutic Strategies in Congenital Myasthenic Syndromes od Ulrike Schara, Hanns Lochmüller

    Izdano 2008
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  2. 2
    Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

    Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness od Teresinha Evangelista, Michael G. Hanna, Hanns Lochmüller

    Izdano 2015
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  3. 3
    Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

    Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome od Rachel Thompson, Gisèle Bonne, Paolo Missier, Hanns Lochmüller

    Izdano 2019
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  4. 4
    EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

    EFNS guideline on diagnosis and management of limb girdle muscular dystrophies od F. Norwood, Marjolein Visser, B. Eymard, Hanns Lochmüller, Kate Bushby

    Izdano 2007
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  5. 5
    Duchenne muscular dystrophy and caregiver burden: a systematic review

    Duchenne muscular dystrophy and caregiver burden: a systematic review od Erik Landfeldt, Josefin Edström, Filippo Buccella, Janbernd Kirschner, Hanns Lochmüller

    Izdano 2018
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  6. 6
    Linker molecules between laminins and dystroglycan ameliorate laminin-α2–deficient muscular dystrophy at all disease stages

    Linker molecules between laminins and dystroglycan ameliorate laminin-α2–deficient muscular dystrophy at all disease stages od Sarina Meinen, Patrizia Barzaghi, Shuo Lin, Hanns Lochmüller, Markus A. Rüegg

    Izdano 2007
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  7. 7
    Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)

    Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP) od Paul Thornhill, David I. Bassett, Hanns Lochmüller, Kate Bushby, Volker Straub

    Izdano 2008
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  8. 8
    Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

    Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene od K. Greer, Hanns Lochmüller, Kevin M. Flanigan, Sue Fletcher, Steve D. Wilton

    Izdano 2014
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  9. 9
    GNE myopathy: from clinics and genetics to pathology and research strategies

    GNE myopathy: from clinics and genetics to pathology and research strategies od Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos

    Izdano 2018
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  10. 10
    Economic Costs of Myasthenia Gravis: A Systematic Review

    Economic Costs of Myasthenia Gravis: A Systematic Review od Erik Landfeldt, Oksana Pogoryelova, Thomas Sejersen, Niklas Zethraeus, Ari Breiner, Hanns Lochmüller

    Izdano 2020
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  11. 11
    Human Skeletal Muscle–derived CD133+ Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice

    Human Skeletal Muscle–derived CD133+ Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice od Jinhong Meng, Soyon Chun, Rowan Asfahani, Hanns Lochmüller, Francesco Muntoni, Jennifer E. Morgan

    Izdano 2014
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  12. 12
    Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

    Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients od Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller

    Izdano 2017
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  13. 13
    Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

    Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis od Erik Landfeldt, Rachel Thompson, Thomas Sejersen, Hugh J. McMillan, Janbernd Kirschner, Hanns Lochmüller

    Izdano 2020
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  14. 14
    P2X7 purinoceptor alterations in dystrophic <i>mdx</i> mouse muscles: relationship to pathology and potential target for treatment

    P2X7 purinoceptor alterations in dystrophic <i>mdx</i> mouse muscles: relationship to pathology and potential target for treatment od Chris Young, Wojciech Brutkowski, Chun‐Fu Lien, S. Arkle, Hanns Lochmüller, Krzysztof Zabłocki, Dariusz C. Górecki

    Izdano 2011
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  15. 15
    Health‐related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross‐sectional study

    Health‐related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross‐sectional study od Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Michela Guglieri, Volker Straub, Hanns Lochmüller, K. Bushby

    Izdano 2015
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  16. 16
    Quantifying the burden of caregiving in Duchenne muscular dystrophy

    Quantifying the burden of caregiving in Duchenne muscular dystrophy od Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Michela Guglieri, Volker Straub, Hanns Lochmüller, K. Bushby

    Izdano 2016
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  17. 17
    ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

    ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research od Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller, Simon Woods

    Izdano 2016
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  18. 18
    Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

    Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR od Katarzyna Marta Zoltowska, Richard Webster, Sarah Finlayson, Susan Maxwell, Judith Cossins, Juliane Müller, Hanns Lochmüller, David Beeson

    Izdano 2013
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  19. 19
    The burden of Duchenne muscular dystrophy

    The burden of Duchenne muscular dystrophy od Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Claude Schmitt, Michela Guglieri, Volker Straub, Hanns Lochmüller, K. Bushby

    Izdano 2014
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  20. 20
    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany od T. Suominen, Benedikt Schoser, O. Raheem, S. Auvinen, Maria Emília M. T. Walter, Ralf Krahe, Hanns Lochmüller, Wolfram Kreß, Bjarne Udd

    Izdano 2008
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