Lochmüller, Hanns

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review

Verhaart, I. E. C., Robertson, A., Wilson, I. J., Aartsma-Rus, A., Cameron, S., Jones, C. C., Cook, S. F., & Lochmüller, H. (2017) · Orphanet Journal of Rare Diseases

Neurogenetic and Muscular Disorders ResearchHereditary Neurological Disorders

Cited by 739

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 677

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Bartsakoulia, M., Pyle, A., Troncoso-Chandía, D., Vial-Brizzi, J., Paz-Fiblas, M. V., Duff, J., Griffin, H., Boczonadi, V., Lochmüller, H., Kleinle, S., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 68

Noninvasive 13C-Octanoic Acid Breath Test Shows Delayed Gastric Emptying in Patients with Amyotrophic Lateral Sclerosis

Toepfer, M., Folwaczny, C., Lochmüller, H., Schroeder, M., Riepl, R. L., Pongratz, D., & Müller-Felber, W. (1999) · Digestion

Gastrointestinal motility and disordersAmyotrophic Lateral Sclerosis Research

Cited by 53

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies

De Palma, S., Capitanio, D., Vasso, M., Braghetta, P., Scotton, C., Bonaldo, P., Lochmüller, H., Muntoni, F., Ferlini, A., & Gelfi, C. (2014) · Journal of Proteome Research

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 40

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Gangfuß, A., Czech, A., Hentschel, A., Münchberg, U., Horvath, R., Töpf, A., O'Heir, E., Lochmüller, H., Stehling, F., Kiewert, C., et al. (2022) · The Journal of Pathology

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 10