Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01650-4.pdf
Reference24 articles.
1. Abu-Amero KK, Kapoor S, Hellani A, Monga S, Bosley TM (2011) Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3. Ophthalmic Genet 32(4):231–236
2. Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Monga S, Bosley TM (2009) Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. J Neurol Sci 276:22–26
3. Amoiridis G, Tzagournissakis M, Christodoulou P, Karampekios S, Latsoudis H, Panou T, Simos P, Plaitakis A (2006) Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. J Neurol Neurosurg Psychiatry 77:1047–1053
4. Amouri R, Nehdi H, Bouhlal Y, Kefi M, Larnaout A, Hentati F (2009) Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. J Mol Neurosci 39:337–341
5. Arlt EM, Keindl TK, Grabner G, Krall EM, Meissnitzer MW (2015) Horizontal gaze palsy with progressive scoliosis. Klin Monatsbl Augenheilkd 232:281–282
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3. Idiopathic scoliosis in subjects with eye diseases: A systematic review with meta‐analysis;Annals of the New York Academy of Sciences;2024-02-07
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