Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7

The Molecular Basis of Spinocerebellar Ataxia Type 7

(2022) Rituparna Goswami et al.   Frontiers in Neuroscience

SCA7 mouse cerebellar pathology reveals preferential downregulation of key Purkinje cell-identity genes and shared disease signature with SCA1 and SCA2.

(2021) Anna Niewiadomska-Cimicka et al.   JOURNAL OF NEUROSCIENCE

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

(2021) Solmaz Abdolrahimzadeh et al.   Journal of Ophthalmology

Ophthalmic Features of Spinocerebellar Ataxia Type 7: A Case Report

(2021) Sara AlHilali et al.   American Journal of Case Reports

A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7

(2020) Bruna Ferraço Marianelli et al.   CEREBELLUM

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

(2019) Ronald A.M. Buijsen et al.   Neurotherapeutics

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

(2019) Jun Young Park et al.   OPHTHALMIC GENETICS

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

(2018) Chenchen Niu et al.   Science Translational Medicine

Ophthalmic features of spinocerebellar ataxia type 7

(2017) A Campos-Romo et al.   EYE

Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7

(2015) Satoshi Katagiri et al.   DOCUMENTA OPHTHALMOLOGICA

Loss of Drosophila Ataxin-7, a SAGA subunit, reduces H2B ubiquitination and leads to neural and retinal degeneration

(2014) R. D. Mohan et al.   GENES & DEVELOPMENT

Spinocerebellar ataxia type 7: Report of an Indian family

(2013) GurusidheshwarM Wali   Annals of Indian Academy of Neurology

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

(2012) Perrine Charles   ARCHIVES OF NEUROLOGY

Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype–Genotype Correlations, and Neuropathology

(2012) Laura C. Horton et al.   CEREBELLUM

Spinocerebellar Ataxia Type 7: Report of a New Italian Family

(2012) Domenico Italiano et al.   INTERNAL MEDICINE

Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in Spinocerebellar ataxia 7 mouse retina

(2010) Marina G. Yefimova et al.   NEUROBIOLOGY OF DISEASE

Neuro-Ophthalmologic Features of Spinocerebellar Ataxia Type 7

(2009) Randee C Miller et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Two Patients With Spinocerebellar Ataxia Type 7 Presenting With Profound Binocular Visual Loss Yet Minimal Ophthalmoscopic Findings

(2009) Matthew J Thurtell et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Ophthalmic Features of Spinocerebellar Ataxia Type 7

(2009) Roslyn K Manrique et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

(2009) Therése Hugosson et al.   OPHTHALMIC GENETICS

Tracking retinal nerve fiber layer loss after optic neuritis: a prospective study using optical coherence tomography

(2008) F Costello et al.   Multiple Sclerosis Journal