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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Among authors: koenig m. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
[Molecular genetics and familial ataxia].
Koenig M, Sirugo G, Duclos F. Koenig M, et al. Rev Neurol (Paris). 1993;149(11):698-702. Rev Neurol (Paris). 1993. PMID: 8091082 Review. French.
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Dürr A, et al. Among authors: koenig m. N Engl J Med. 1996 Oct 17;335(16):1169-75. doi: 10.1056/NEJM199610173351601. N Engl J Med. 1996. PMID: 8815938 Free article.
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: koenig m. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622
Phenotypic variability of aprataxin gene mutations.
Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Tranchant C, et al. Among authors: koenig m. Neurology. 2003 Mar 11;60(5):868-70. doi: 10.1212/01.wnl.0000048562.88536.a4. Neurology. 2003. PMID: 12629250
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A. Le Ber I, et al. Among authors: koenig m. Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23. Brain. 2003. PMID: 14506070 Free article.
955 results