Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation

Ophthalmic features of spinocerebellar ataxia type 7

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Spinocerebellar ataxia: relationship between phenotype and genotype - a review

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Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

(2013) Udo Rüb et al.   PROGRESS IN NEUROBIOLOGY

Multimodal Imaging of Occult Macular Dystrophy

(2013) Seong Joon Ahn et al.   JAMA Ophthalmology

Ophthalmologic features of the common spinocerebellar ataxias

(2010) John H Pula et al.   CURRENT OPINION IN OPHTHALMOLOGY

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Polyglutamine Diseases: Where does Toxicity Come from? What is Toxicity? Where are We Going?

(2010) T. Takahashi et al.   Journal of Molecular Cell Biology

The Spinocerebellar Ataxias

(2009) Henry L Paulson   JOURNAL OF NEURO-OPHTHALMOLOGY

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

(2008) Gwenn A. Garden et al.   CEREBELLUM