His primary areas of study are Genetics, Internal medicine, Mutation, Myopathy and Cell biology. Hanns Lochmüller works in the field of Internal medicine, namely Muscular dystrophy. His biological study spans a wide range of topics, including Limb-girdle muscular dystrophy, Physical therapy and Duchenne muscular dystrophy.
His Mutation research incorporates elements of Phenotype, Genotype and Actin. His Cell biology study combines topics from a wide range of disciplines, such as Spinal muscular atrophy, Zebrafish and Skeletal muscle. The concepts of his Gene study are interwoven with issues in Molecular biology and Disease.
Hanns Lochmüller mainly investigates Genetics, Internal medicine, Duchenne muscular dystrophy, Pathology and Muscular dystrophy. Mutation, Gene, Myopathy, Missense mutation and Phenotype are the subjects of his Genetics studies. Gene and Molecular biology are frequently intertwined in his study.
His research in Internal medicine focuses on subjects like Endocrinology, which are connected to Neuromuscular junction. Many of his studies involve connections with topics such as Skeletal muscle and Duchenne muscular dystrophy. His studies deal with areas such as Pediatrics and Weakness as well as Congenital myasthenic syndrome.
Hanns Lochmüller mainly investigates Internal medicine, Disease, Pediatrics, Myotonic dystrophy and Duchenne muscular dystrophy. Hanns Lochmüller focuses mostly in the field of Internal medicine, narrowing it down to topics relating to Endocrinology and, in certain cases, Neuromuscular junction. His work deals with themes such as Congenital myasthenic syndrome, Epidemiology and Cohort, which intersect with Pediatrics.
Hanns Lochmüller combines subjects such as Missense mutation, Muscle weakness and Weakness with his study of Congenital myasthenic syndrome. His Missense mutation study necessitates a more in-depth grasp of Genetics. His research investigates the connection with Duchenne muscular dystrophy and areas like Muscular dystrophy which intersect with concerns in Muscle disorder.
The scientist’s investigation covers issues in Disease, Internal medicine, Duchenne muscular dystrophy, Pediatrics and Clinical trial. His Disease research includes themes of Quality of life, Muscle weakness, MEDLINE and Bioinformatics. His Internal medicine research includes elements of Endocrinology and Oncology.
Hanns Lochmüller usually deals with Endocrinology and limits it to topics linked to Acetylcholinesterase and Neuromuscular transmission. His study in the field of Dystrophin also crosses realms of Cost-effectiveness analysis. His Frameshift mutation study is associated with Genetics.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta.
Human Mutation (2015)
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène.
Nature Genetics (2005)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
R Horvath;G Hudson;G Ferrari;N Futterer.
The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants.
Johnny Huard;H. Lochmüller;G. Acsadi;A. Jani.
Gene Therapy (1995)
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Ingrid E. C. Verhaart;Agata Robertson;Ian J. Wilson;Annemieke Aartsma-Rus.
Orphanet Journal of Rare Diseases (2017)
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat.
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B. Wirth;L. Brichta;B. Schrank;H. Lochmüller.
Human Genetics (2006)
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
Matthias Vorgerd;Peter F.M. van der Ven;Peter F.M. van der Ven;Vera Bruchertseifer;Thomas Löwe.
American Journal of Human Genetics (2005)
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