Anahita Rassi

发表

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice

H. Fuchs, E. Wolf, M. H. Angelis, 2016, Journal of Inherited Metabolic Disease.

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

D. Noain, C. Baumann, Aurora Martínez, 2015, Brain : a journal of neurology.

Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice

Aurora Martínez, C. Harding, H. M. Grisch-Chan, 2018, Journal of Inherited Metabolic Disease.

Pseudoexon exclusion by antisense therapy in 6‐pyruvoyl‐tetrahydropterin synthase deficiency

M. Ugarte, B. Thöny, B. Pérez, 2011, Human mutation.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

N. Blau, B. Thöny, G. Hoffmann, 2017, Journal of Medical Genetics.

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

N. Blau, B. Thöny, G. Hoffmann, 2011, Journal of Inherited Metabolic Disease.

Peripheral biopterin and neopterin in schizophrenia and depression

E. Seifritz, B. Thöny, F. Cathomas, 2021, Psychiatry Research.

Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models.

B. Werner, J. Sass, E. Martin-Fiori, 2014, Journal of controlled release : official journal of the Controlled Release Society.

Distinct Proteomic, Transcriptomic, and Epigenetic Stress Responses in Dorsal and Ventral Hippocampus

Lukas M. von Ziegler, B. Thöny, J. Bohacek, 2018, Biological Psychiatry.

Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application

M. Hersberger, M. Poms, Alessio Cremonesi, 2023, Clinical chemistry and laboratory medicine.

Base editing of Ptbp1 in neurons alleviates symptoms in a mouse model for Parkinson’s disease

Tommaso Patriarchi, Gerald Schwank, Désirée Böck, 2024, bioRxiv.