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Quoted phrase not found in phrase index: "Neurodegeneration with ataxia and late-onset optic atrophy"
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"Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases.
Harding AE. Harding AE. J Neurol Sci. 1981 Aug;51(2):259-71. doi: 10.1016/0022-510x(81)90104-0. J Neurol Sci. 1981. PMID: 7276977
The clinical features of 36 patients with late onset cerebellar ataxia of unknown cause are described. Overall, the age of onset ranged from 30 to 74 years and there was a significant excess of males. ...Optic atrophy ophthalmoplegia and pigment …
The clinical features of 36 patients with late onset cerebellar ataxia of unknown cause are described. Overall, the age …
Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
Keller SH, Johnson GS, Bullock G, Mhlanga-Mutangadura T, Schwartz M, Pattridge SG, Guo J, Kortz GD, Katz ML. Keller SH, et al. Genes (Basel). 2024 Feb 15;15(2):246. doi: 10.3390/genes15020246. Genes (Basel). 2024. PMID: 38397235 Free PMC article.
The disease was characterized by pronounced abnormalities in the myelin of the brain and optic nerve consisting of distinctive areas of ballooning between the layers of myelin. ...Based on the clinical history, fluorescence and electron-microscopy, immunohistochemis …
The disease was characterized by pronounced abnormalities in the myelin of the brain and optic nerve consisting of distinctive …
Clinical spectrum of Hallervorden-Spatz syndrome in India.
Sachin S, Goyal V, Singh S, Shukla G, Sharma MC, Gaikwed S, Behari M. Sachin S, et al. J Clin Neurosci. 2009 Feb;16(2):253-8. doi: 10.1016/j.jocn.2008.04.004. Epub 2008 Dec 3. J Clin Neurosci. 2009. PMID: 19056277
The patients with early onset had more frequent truncal and axial dystonia, including retrocollis, oromandibular-facial dystonia and chorea, dysarthria, pyramidal signs, gait disturbance, cognitive impairment, delay in milestones, retinitis pigmentosa, optic atrophy …
The patients with early onset had more frequent truncal and axial dystonia, including retrocollis, oromandibular-facial dystonia and chorea, …