Citations for
1POLG, SANDO
Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.
Belyakova-Bodina A, Ratanov M, Schneider E, Seliverstov Y, Nuzhnyi E, Klyushnikov S, Broutian A.
J Neurol. Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12 2021
2AMS1, MNGIE2, PEO1, PNDC, POLG, SANDO
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.
Hum Mutat 29(9):E150-E172. [Epub ahead of print] 2008
3POLG, SANDO
SANDO: two novel mutations in POLG1 gene.
Gago MF, Rosas MJ, Guimar„es J, Ferreira M, Vilarinho L, Castro L, Carpenter S.
Neuromuscul Disord 16(8):507-9. Epub 2006 Aug 21. 2006
4POLG,AMS1, PNDC, SANDO
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.
Brain 129(Pt 7):1685-92. Epub 2006 Apr 25. 2006
5POLG, AMS1, PNDC, SANDO
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.
Brain 129(Pt 7):1674-84. Epub 2006 Apr 18. 2006
6SANDO, POLG
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.
Neurology 64(7):1204-8. 2005
7POLG, SANDO
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.
Neurology 62(2):316-8. 2004