Jan-Ulrich Schlump

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Afshin Saffari, Ines Brösse, Adelheid Wiemer‐Kruel et al. · Orphanet Journal of Rare Diseases · 2019 · 126 citations · Full text

Medicine, Neurology, Pediatrics +17

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 75 citations · Full text

Life Sciences, Genetics, Neurology +14

Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

Eva Wendel, Helen Sophie Thonke, Annikki Bertolini et al. · Neurology Neuroimmunology & Neuroinflammation · 2022 · 62 citations · Full text

Medicine, Neurology, Pediatrics +17

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Lynne Rumping, Benjamin Büttner, Oliver Maier et al. · JAMA Neurology · 2018 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17