| Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study C Weiß, A Ziegler, LL Becker, J Johannsen, H Brennenstuhl, G Schreiber, ... The Lancet Child & Adolescent Health 6 (1), 17-27, 2022 | 76 | 2022 |
| Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment H Brennenstuhl, S Jung-Klawitter, B Assmann, T Opladen Neuropediatrics 50 (01), 002-014, 2019 | 63 | 2019 |
| Succinic semialdehyde dehydrogenase deficiency: an update M Didiasova, A Banning, H Brennenstuhl, S Jung-Klawitter, ... Cells 9 (2), 477, 2020 | 40 | 2020 |
| High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots H Brennenstuhl, D Kohlmüller, G Gramer, SF Garbade, S Syrbe, P Feyh, ... Journal of Inherited Metabolic Disease 43 (3), 602-610, 2020 | 35 | 2020 |
| Modulation of immune responses by histone deacetylase inhibitors S Schotterl, H Brennenstuhl, U Naumann Critical Reviews™ in Oncogenesis 20 (1-2), 2015 | 34 | 2015 |
| Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders JH Döring, J Schröter, J Jüngling, S Biskup, KA Klotz, T Bast, T Dietel, ... International Journal of Molecular Sciences 22 (6), 2824, 2021 | 29 | 2021 |
| Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants D Lenz, M Stahl, E Seidl, D Schöndorf, H Brennenstuhl, F Gesenhues, ... Pediatric pulmonology 55 (11), 3057-3066, 2020 | 26 | 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 | 25 | 2020 |
| Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria H Brennenstuhl, M Nashawi, J Schröter, F Baronio, L Beedgen, F Gleich, ... Journal of Inherited Metabolic Disease 44 (5), 1272-1287, 2021 | 19 | 2021 |
| IκBζ, an atypical member of the inhibitor of nuclear factor kappa B family, is induced by γ-irradiation in glioma cells, regulating cytokine secretion and associated with poor … H Brennenstuhl, A Armento, AK Braczysnki, M Mittelbronn, U Naumann International Journal of Oncology 47 (5), 1971-1980, 2015 | 16 | 2015 |
| Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants GF Vogel, Y Mozer-Glassberg, YE Landau, LD Schlieben, H Prokisch, ... Genetics in Medicine 25 (6), 100314, 2023 | 11 | 2023 |
| Compound heterozygosis in AADC deficiency: a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins C Longo, R Montioli, G Bisello, L Palazzi, M Mastrangelo, H Brennenstuhl, ... Molecular Genetics and Metabolism 134 (1-2), 147-155, 2021 | 11 | 2021 |
| Neuroimaging spectrum of inherited neurotransmitter disorders YT Lim, K Mankad, M Kinali, AP Tan Neuropediatrics 51 (01), 006-021, 2020 | 11 | 2020 |
| Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder F Semino, J Schröter, MH Willemsen, T Bast, S Biskup, S Beck‐Woedl, ... Human Mutation 42 (9), 1094-1100, 2021 | 10 | 2021 |
| Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency H Brennenstuhl, SF Garbade, JG Okun, P Feyh, GF Hoffmann, ... Molecular genetics and metabolism 131 (1-2), 163-170, 2020 | 10 | 2020 |
| Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies J Schröter, B Popp, H Brennenstuhl, JH Döring, SH Donze, EK Bijlsma, ... European Journal of Human Genetics 30 (3), 298-306, 2022 | 9 | 2022 |
| Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database H Brennenstuhl, M Will, E Ries, K Mechler, S Garbade, M Ries BMJ open 11 (6), e046359, 2021 | 9 | 2021 |
| Succinic semialdehyde dehydrogenase deficiency: in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 H Brennenstuhl, M Didiasova, B Assmann, M Bertoldi, G Molla, ... International journal of molecular sciences 21 (22), 8578, 2020 | 9 | 2020 |
| Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up A Roubertie, T Opladen, H Brennenstuhl, O Kuseyri Hübschmann, L Flint, ... Journal of Inherited Metabolic Disease, 2023 | 8 | 2023 |
| aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment J Schröter, T Dattner, J Hüllein, A Jayme, V Heuveline, GF Hoffmann, ... Computational and Structural Biotechnology Journal 21, 1077-1083, 2023 | 6 | 2023 |
Stefan KölkerHeidelberg University HospitalVerified email at med.uni-heidelberg.de
