Hanns Lochmüller
Researcher Next ID · RN-032131
Researcher · Biochemistry, Genetics and Molecular Biology
Ottawa, Germany
- Works count
- 1,559
- Citation count
- 39,659
- H-index
- 102
- i10-index
- 553
Research interests
Publications
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Nucleic Acids Research · 2018 · https://doi.org/10.1093/nar/gky1105
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Orphanet Journal of Rare Diseases · 2017 · https://doi.org/10.1186/s13023-017-0671-8
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Journal of Neuromuscular Diseases · 2017 · https://doi.org/10.3233/jnd-170280
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.04.003
The Human Phenotype Ontology in 2017
Nucleic Acids Research · 2016 · https://doi.org/10.1093/nar/gkw1039
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Human Mutation · 2015 · https://doi.org/10.1002/humu.22758
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Nature Communications · 2014 · https://doi.org/10.1038/ncomms5287
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study
PLoS ONE · 2013 · https://doi.org/10.1371/journal.pone.0070993
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
Nature Genetics · 2009 · https://doi.org/10.1038/ng.390
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Nature Genetics · 2009 · https://doi.org/10.1038/ng.378
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/511788
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Brain · 2007 · https://doi.org/10.1093/brain/awm054
Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Neuromuscular Disorders · 2007 · https://doi.org/10.1016/j.nmd.2007.06.002
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
The American Journal of Human Genetics · 2006 · https://doi.org/10.1086/506257
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Nature Genetics · 2005 · https://doi.org/10.1038/ng1678
Risk of developing a mitochondrial DNA deletion disorder
The Lancet · 2004 · https://doi.org/10.1016/s0140-6736(04)16851-7
Radiation Dose and Second Cancer Risk in Patients Treated for Cancer of the Cervix
Radiation Research · 1988 · https://doi.org/10.2307/3577477
Radiation Dose and Second Cancer Risk in Patients Treated for Cancer of the Cervix
Radiation Research · 1988 · https://doi.org/10.2307/3577477
Current projects
No projects listed.