Author:
Palau Francesc,Arpa Javier
Publisher
Springer International Publishing
Reference37 articles.
1. Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366:636–646
2. Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E et al (2019) A clinical diagnostic algorithm for early onset cerebellar ataxia. Eur J Paediatr Neurol 23:692–706
3. Candayan A, Yunisova G, Çakar A, Durmuş H, Başak AN, Parman Y, Battaloğlu E (2020) The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics 21:73–78
4. Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D’Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D’Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A (2019) Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology 92:e2679–e2690
5. Cortese A, Reilly MM, Houlden H (2020a) RFC1 CANVAS/spectrum disorder. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews®. University of Washington, Seattle, Seattle, WA. https://www.ncbi.nlm.nih.gov/books/NBK564656/
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献