| Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome E Lancaster, E Martinez-Hernandez, MJ Titulaer, M Boulos, S Weaver, ... Neurology 77 (18), 1698-1701, 2011 | 372 | 2011 |
| Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial S Strothotte, N Strigl-Pill, B Grunert, C Kornblum, K Eger, C Wessig, ... Journal of neurology 257, 91-97, 2010 | 312 | 2010 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 259 | 2013 |
| The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease M Minnerop, B Weber, JC Schoene-Bake, S Roeske, S Mirbach, ... Brain 134 (12), 3530-3546, 2011 | 259 | 2011 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 176 | 2021 |
| European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience AT van der Ploeg, ME Kruijshaar, A Toscano, P Laforêt, C Angelini, ... European journal of neurology 24 (6), 768-e31, 2017 | 148 | 2017 |
| 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy C Regnery, C Kornblum, F Hanisch, S Vielhaber, N Strigl-Pill, B Grunert, ... Journal of inherited metabolic disease 35, 837-845, 2012 | 144 | 2012 |
| Mitochondrial disease in adults: recent advances and future promise YS Ng, LA Bindoff, GS Gorman, T Klopstock, C Kornblum, M Mancuso, ... The Lancet Neurology 20 (7), 573-584, 2021 | 135 | 2021 |
| Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: a whole body highfield MRI study C Kornblum, G Lutterbey, M Bogdanow, K Kesper, H Schild, R Schröder, ... Journal of neurology 253, 753-761, 2006 | 131 | 2006 |
| Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ... The Journal of Clinical Investigation 131 (6), 2021 | 115 | 2021 |
| Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2 C Kornblum, J Reul, W Kress, C Grothe, N Amanatidis, T Klockgether, ... Journal of neurology 251, 710-714, 2004 | 114 | 2004 |
| The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO C Fratter, GS Gorman, JD Stewart, M Buddles, C Smith, J Evans, A Seller, ... Neurology 74 (20), 1619-1626, 2010 | 101 | 2010 |
| Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP S Schreiber, A Oldag, C Kornblum, K Kollewe, S Kropf, A Schoenfeld, ... Muscle & nerve 47 (3), 385-395, 2013 | 100 | 2013 |
| Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion S Vielhaber, G Debska-Vielhaber, V Peeva, S Schoeler, AP Kudin, I Minin, ... Acta neuropathologica 125, 245-256, 2013 | 96 | 2013 |
| Expanded phenotypic spectrum of the m. 8344A> G “MERRF” mutation: data from the German mitoNET registry J Altmann, B Büchner, A Nadaj-Pakleza, J Schäfer, S Jackson, ... Journal of neurology 263, 961-972, 2016 | 94 | 2016 |
| A new muscle glycogen storage disease associated with glycogenin‐1 deficiency E Malfatti, J Nilsson, C Hedberg‐Oldfors, A Hernandez‐Lain, F Michel, ... Annals of neurology 76 (6), 891-898, 2014 | 92 | 2014 |
| Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy G Zsurka, Y Kraytsberg, T Kudina, C Kornblum, CE Elger, K Khrapko, ... Nature genetics 37 (8), 873-877, 2005 | 91 | 2005 |
| TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations YJ Lee, PH Jonson, J Sarparanta, J Palmio, M Sarkar, A Vihola, A Evilä, ... The Journal of clinical investigation 128 (3), 1164-1177, 2018 | 85 | 2018 |
| Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease TJ Nicholls, G Zsurka, V Peeva, S Schöler, RJ Szczesny, D Cysewski, ... Human molecular genetics 23 (23), 6147-6162, 2014 | 85 | 2014 |
| Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole‐body 3.0‐T magnetic resonance imaging study K Kesper, C Kornblum, J Reimann, G Lutterbey, R Schröder, MP Wattjes Acta neurologica Scandinavica 120 (2), 111-118, 2009 | 82 | 2009 |
