We study mono-, oligo- and polygenic causes for neurological disorders, including Parkinson disease, ataxias, dystonias, neurometabolic disorders and other rare diseases.
Andreas Puschmann
Keywords
Key publications
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A. Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. Am J Hum Genet. 2024 Jan 4;111(1):82-95.
Bustillos BA, Cocker LT, Coban MA, Weber CA, Bredenberg JM, Boneski PK, Siuda J, Slawek J, Puschmann A, Narendra DP, Graff-Radford NR, Wszolek ZK, Dickson DW, Ross OA, Caulfield TR, Springer W, Fiesel FC. Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W. Cells. 2024 Sep 13;13(18):1540.
Dobloug S, Kjellström U, Anderson G, Gardner E, Mole SE, Sheth J, Puschmann A. Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Mol Genet Genomic Med. 2024 Aug;12(8):e2505.
Gorcenco S, Kafantari E, Wallenius J, Karremo C, Alinder E, Dobloug S, Landqvist Waldö M, Englund E, Ehrencrona H, Wictorin K, Karrman K, Puschmann A. Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia. J Neurol. 2024 Jan;271(1):526-542.
Ilinca A, Puschmann A, Putaala J, de Leeuw FE, Cole J, Kittner S, Kristoffersson U, Lindgren AG. Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke. Eur J Hum Genet. 2023 Feb;31(2):239-242.