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[Hereditary ataxias].
Tallaksen CM. Tallaksen CM. Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1977-80. Tidsskr Nor Laegeforen. 2008. PMID: 18787576 Free article. Review. Norwegian.
RESULTS: Autosomal dominant cerebellar ataxias constitute the largest group and includes spinocerebellar ataxias (SCA 1-29), dentatorubral-pallidolyisian atrophy (DRPLA) and episodic ataxias (EA 1-6). Diagnosis is based on family history, …
RESULTS: Autosomal dominant cerebellar ataxias constitute the largest group and includes spinocerebellar ataxias …
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M, Nishizawa M, Onodera O. Tada M, et al. Neurochem Int. 2016 Mar;94:1-8. doi: 10.1016/j.neuint.2016.01.007. Epub 2016 Jan 28. Neurochem Int. 2016. PMID: 26827887 Review.
Heterozygous deletions or missense mutations in ITPR1, which encodes IP3R1, result in autosomal dominantly inherited spinocerebellar ataxias (SCAs), including SCA types 15 (SCA15) and 29 (SCA29). In addition, homozygous missense mutations in carbonic a …
Heterozygous deletions or missense mutations in ITPR1, which encodes IP3R1, result in autosomal dominantly inherited spinocerebell …
[Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].
Triki C, Feki I, Meziou M, Turki H, Zahaf A, Mhiri C. Triki C, et al. Rev Neurol (Paris). 2000 Jul;156(6-7):634-7. Rev Neurol (Paris). 2000. PMID: 10891797 Review. French.
Ataxia telangiectasia is a multisystem disease with an autosomal recessive inheritance. ...When ocular telangiectasia was absent (6 cases), the diagnostic of ataxia telangiectasia was retained on oculomotor apraxia (2 cases), recurrent sinopulmonary in …
Ataxia telangiectasia is a multisystem disease with an autosomal recessive inheritance. ...When ocular telangiectasia w …