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Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Oktay Y, et al. Among authors: bender b. J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510. J Neuromuscul Dis. 2020. PMID: 32444556 Free PMC article.
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Among authors: bender b. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Caballero Oteyza A, et al. Among authors: bender b. Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7. Neurology. 2014. PMID: 24808017 Free PMC article.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. Strickland AV, et al. Among authors: bender b. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24. J Neurol. 2015. PMID: 26100331 Free PMC article.
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. Among authors: bender b. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646
776 results