Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-021-05100-w.pdf
Reference21 articles.
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3. Clements PM, Breslin C, Deeks ED, Byrd PJ, Ju L, Bieganowski P, Brenner C, Moreira MC, Taylor AM, Caldecott KW (2004) The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA repair 3:1493–1502
4. Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB (2018) Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy. Am J Hum Genet 103:817–825
5. El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW (2005) Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature 434:108–113
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