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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: koeppen a. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Correction: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis.
Chatterjee A, Saha S, Chakraborty A, Silva-Fernandes A, Mandal SM, Neves-Carvalho A, Liu Y, Pandita RK, Hegde ML, Hegde PM, Boldogh I, Ashizawa T, Koeppen AH, Pandita TK, Maciel P, Sarkar PS, Hazra TK. Chatterjee A, et al. Among authors: koeppen ah. PLoS Genet. 2024 Jan 18;20(1):e1011124. doi: 10.1371/journal.pgen.1011124. eCollection 2024 Jan. PLoS Genet. 2024. PMID: 38236804 Free PMC article.
Tissue Iron in Friedreich Ataxia.
Koeppen AH. Koeppen AH. J Integr Neurosci. 2024 Jan 10;23(1):4. doi: 10.31083/j.jin2301004. J Integr Neurosci. 2024. PMID: 38287850 Free article.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
Friedreich cardiomyopathy is a desminopathy.
Koeppen AH, Rafique RF, Mazurkiewicz JE, Pelech S, Sutter C, Lin Q, Qian J. Koeppen AH, et al. Free Neuropathol. 2021 Dec 13;2:2-34. doi: 10.17879/freeneuropathology-2021-3679. eCollection 2021 Jan. Free Neuropathol. 2021. PMID: 37284625 Free PMC article.
From neurology to neuropathology and back.
Koeppen AH. Koeppen AH. Free Neuropathol. 2021 Apr 21;2:2-10. doi: 10.17879/freeneuropathology-2021-3333. eCollection 2021 Jan. Free Neuropathol. 2021. PMID: 37284633 Free PMC article. No abstract available.
Central Nervous System Therapeutic Targets in Friedreich Ataxia.
Harding IH, Lynch DR, Koeppen AH, Pandolfo M. Harding IH, et al. Among authors: koeppen ah. Hum Gene Ther. 2020 Dec;31(23-24):1226-1236. doi: 10.1089/hum.2020.264. Hum Gene Ther. 2020. PMID: 33238751 Free PMC article. Review.
The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples.
Duarte Lobo D, Nobre RJ, Oliveira Miranda C, Pereira D, Castelhano J, Sereno J, Koeppen A, Castelo-Branco M, Pereira de Almeida L. Duarte Lobo D, et al. Among authors: koeppen a. Acta Neuropathol Commun. 2020 Aug 31;8(1):152. doi: 10.1186/s40478-020-00955-0. Acta Neuropathol Commun. 2020. PMID: 32867861 Free PMC article.
130 results