| The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 797 | 2015 |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 739 | 2019 |
| Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review IEC Verhaart, A Robertson, IJ Wilson, A Aartsma-Rus, S Cameron, ... Orphanet journal of rare diseases 12, 1-15, 2017 | 735 | 2017 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 652 | 2017 |
| Mutations in dynamin 2 cause dominant centronuclear myopathy M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ... Nature genetics 37 (11), 1207-1209, 2005 | 504 | 2005 |
| Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ... Brain 129 (7), 1674-1684, 2006 | 461 | 2006 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 439 | 2017 |
| The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. J Huard, H Lochmüller, G Acsadi, A Jani, B Massie, G Karpati Gene therapy 2 (2), 107-115, 1995 | 423 | 1995 |
| Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number B Wirth, L Brichta, B Schrank, H Lochmüller, S Blick, A Baasner, R Heller Human genetics 119, 422-428, 2006 | 408 | 2006 |
| The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ... Brain 130 (8), 2037-2044, 2007 | 372 | 2007 |
| Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome W Weraarpachai, H Antonicka, F Sasarman, J Seeger, B Schrank, ... Nature genetics 41 (7), 833-837, 2009 | 352 | 2009 |
| A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy M Vorgerd, PFM Van der Ven, V Bruchertseifer, T Löwe, RA Kley, ... The American Journal of Human Genetics 77 (2), 297-304, 2005 | 333 | 2005 |
| Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients W Müller-Felber, R Horvath, K Gempel, T Podskarbi, Y Shin, D Pongratz, ... Neuromuscular Disorders 17 (9-10), 698-706, 2007 | 321 | 2007 |
| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ... Nature genetics 42 (2), 160-164, 2010 | 320 | 2010 |
| Dok-7 mutations underlie a neuromuscular junction synaptopathy D Beeson, O Higuchi, J Palace, J Cossins, H Spearman, S Maxwell, ... Science 313 (5795), 1975-1978, 2006 | 305 | 2006 |
| Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ... Nature genetics 37 (12), 1312-1314, 2005 | 300 | 2005 |
| Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (ΔE1+ ΔE3) during multiple passages in 293 cells H Lochmüller, A Jani, J Huard, S Prescott, M Simoneau, B Massie, ... Human Gene Therapy 5 (12), 1485-1491, 1994 | 298 | 1994 |
| SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ... Nature genetics 41 (6), 654-656, 2009 | 297 | 2009 |
| Risk of developing a mitochondrial DNA deletion disorder PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ... The Lancet 364 (9434), 592-596, 2004 | 285 | 2004 |
| Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1) NG Laing, DE Dye, C Wallgren‐Pettersson, G Richard, N Monnier, S Lillis, ... Human mutation 30 (9), 1267-1277, 2009 | 268 | 2009 |
Prof. Dr. med. Janbernd KirschnerDept. for Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of FreiburgVerified email at uniklinik-freiburg.de