Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

por Evangelista, Teresinha, Hanna, Mike, Lochmüller, Hanns
Publicado 2015

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

por Landfeldt, Erik, Lochmüller, Hanns, Lindgren, Peter
Publicado 2019

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

por Rodger, Sunil, Steffensen, Birgit F, Lochmüller, Hanns
Publicado 2012

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

por Lochmüller, Hanns, Ramirez, Antonio Nino, Kakkis, Emil
Publicado 2021

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

por Thompson, Rachel, Bonne, Gisèle, Missier, Paolo, Lochmüller, Hanns
Publicado 2019

Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction

por Herbst, Ruth, Koneczny, Inga, Lochmüller, Hanns, Strochlic, Laure
Publicado 2021

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

por O’Connor, Kaela, Spendiff, Sally, Lochmüller, Hanns, Horvath, Rita
Publicado 2023

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models

por Pugliese, Alessia, Holland, Stephen H., Rodolico, Carmelo, Lochmüller, Hanns, Spendiff, Sally
Publicado 2023

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

por Meinen, Sarina, Barzaghi, Patrizia, Lin, Shuo, Lochmüller, Hanns, Ruegg, Markus A.
Publicado 2007

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

por McMacken, Grace, Whittaker, Roger G., Wake, Ruth, Lochmuller, Hanns, Horvath, Rita
Publicado 2023

How reference networks develop, implement, and monitor guidelines

por Kirschner, Jan, Rodger, Sunil, Vry, Julia, Gramsch, Kathrin, Lochmüller, Hanns, Bushby, Kate
Publicado 2012

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

por Greer, Kane L, Lochmüller, Hanns, Flanigan, Kevin, Fletcher, Susan, Wilton, Steve D
Publicado 2014

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis

por Landfeldt, Erik, Alfredsson, Lars, Straub, Volker, Lochmüller, Hanns, Bushby, Katharine, Lindgren, Peter
Publicado 2016

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

por Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke
Publicado 2017

GNE myopathy: from clinics and genetics to pathology and research strategies

por Pogoryelova, Oksana, González Coraspe, José Andrés, Nikolenko, Nikoletta, Lochmüller, Hanns, Roos, Andreas
Publicado 2018

An improved method for culturing myotubes on laminins for the robust clustering of postsynaptic machinery

por Pęziński, Marcin, Daszczuk, Patrycja, Pradhan, Bhola Shankar, Lochmüller, Hanns, Prószyński, Tomasz J.
Publicado 2020

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review

por Landfeldt, Erik, Pechmann, Astrid, McMillan, Hugh J., Lochmüller, Hanns, Sejersen, Thomas
Publicado 2021

Inclusion Body Myositis: Laser Microdissection Reveals Differential Up-Regulation of IFN-γ Signaling Cascade in Attacked versus Nonattacked Myofibers

por Ivanidze, Jana, Hoffmann, Reinhard, Lochmüller, Hanns, Engel, Andrew G., Hohlfeld, Reinhard, Dornmair, Klaus
Publicado 2011

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

por Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns
Publicado 2018

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

por McMacken, Grace, Cox, Dan, Roos, Andreas, Müller, Juliane, Whittaker, Roger, Lochmüller, Hanns
Publicado 2018