| Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients A Traschütz, T Schirinzi, L Laugwitz, NH Murray, CA Bingman, S Reich, ... Annals of neurology 88 (2), 251-263, 2020 | 61 | 2020 |
| Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy K Danhauser, B Alhaddad, C Makowski, D Piekutowska-Abramczuk, ... The American Journal of Human Genetics 103 (5), 817-825, 2018 | 50 | 2018 |
| Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease MW Friederich, AF Elias, A Kuster, L Laugwitz, AA Larson, AP Landry, ... Journal of inherited metabolic disease 43 (5), 1024-1036, 2020 | 44 | 2020 |
| Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ... The American Journal of Human Genetics 107 (2), 364-373, 2020 | 36 | 2020 |
| Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 D Lenz, DEC Smith, E Crushell, RA Husain, GS Salomons, B Alhaddad, ... Genetics in Medicine 22 (11), 1863-1873, 2020 | 27 | 2020 |
| Genetic basis of neurodevelopmental disorders in 103 Jordanian families T Froukh, O Nafie, SAS Al Hait, L Laugwitz, J Sommerfeld, M Sturm, ... Clinical Genetics 97 (4), 621-627, 2020 | 23 | 2020 |
| Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome S Donkervoort, P Mohassel, L Laugwitz, MS Zaki, EJ Kamsteeg, ... American Journal of Medical Genetics Part A 182 (10), 2272-2283, 2020 | 21 | 2020 |
| Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy CK Rapp, I Van Dijck, L Laugwitz, M Boon, G Briassoulis, S Ilia, ... Clinical Genetics 100 (4), 453-461, 2021 | 16 | 2021 |
| Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?–Chances and challenges V Santhanakumaran, S Groeschel, K Harzer, C Kehrer, S Elguen, ... Molecular Genetics and Metabolism 137 (3), 273-282, 2022 | 15 | 2022 |
| Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes L Laugwitz, A Seibt, D Herebian, S Peralta, I Kienzle, R Buchert, R Falb, ... Journal of medical genetics 59 (9), 878-887, 2022 | 15 | 2022 |
| Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches S Illsinger, GC Korenke, S Boesch, M Nocker, D Karall, JM Nuoffer, ... European journal of medical genetics 63 (11), 104046, 2020 | 14 | 2020 |
| Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis V Kožich, BC Schwahn, J Sokolová, M Křížková, T Ditroi, J Krijt, Y Khalil, ... Redox Biology 58, 102517, 2022 | 11 | 2022 |
| Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease I Cordts, L Semmler, J Prasuhn, A Seibt, D Herebian, T Navaratnarajah, ... Movement Disorders 37 (10), 2147-2153, 2022 | 11 | 2022 |
| Hematopoietic stem cell transplantation with mesenchymal stromal cells in children with metachromatic leukodystrophy KM Cabanillas Stanchi, J Böhringer, M Strölin, S Groeschel, K Lenglinger, ... Stem cells and development 31 (7-8), 163-175, 2022 | 9 | 2022 |
| Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? L Laugwitz, R Buchert, S Groeschel, A Riess, M Grimmel, S Beck-Wödl, ... European Journal of Medical Genetics 63 (7), 103938, 2020 | 9 | 2020 |
| Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 L Laugwitz, S Redler, R Buchert, M Sturm, I Zeile, U Schara, D Wieczorek, ... Klinische Pädiatrie 230 (05), 281-283, 2018 | 9 | 2018 |
| MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation J Feldmann, P Martin, B Bender, L Laugwitz, L Zizmare, C Trautwein, ... NeuroImage: Clinical 37, 103296, 2023 | 7 | 2023 |
| Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature L Laugwitz, V Santhanakumaran, M Spieker, J Boehringer, B Bender, ... JIMD reports 63 (4), 292-302, 2022 | 6 | 2022 |
| Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics L Laugwitz, L Zizmare, V Santhanakumaran, C Cannet, J Böhringer, ... JIMD reports 63 (2), 168-180, 2022 | 3 | 2022 |
| Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States LA Adang, JL Bonkowsky, JJ Boelens, E Mallack, R Ahrens-Nicklas, ... Cytotherapy, 2024 | 2 | 2024 |
