Literature DB >> 32991389

Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Vivian Paraskevi Douglas1, Konstantinos A A Douglas, John B Miller, Eric D Gaier.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 32991389      PMCID： PMC8564680          DOI： 10.1097/WNO.0000000000001050

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  5 in total

1.  Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors:  Martine Girard; Roxanne Larivière; David A Parfitt; Emily C Deane; Rebecca Gaudet; Nadya Nossova; Francois Blondeau; George Prenosil; Esmeralda G M Vermeulen; Michael R Duchen; Andrea Richter; Eric A Shoubridge; Kalle Gehring; R Anne McKinney; Bernard Brais; J Paul Chapple; Peter S McPherson
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-17       Impact factor: 11.205

2.  Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  Christopher T Shah; Tyson S Ward; Julie A Matsumoto; Yevgeniy Shildkrot
Journal:  J AAPOS       Date:  2016-02       Impact factor: 1.220

3.  Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  Michael H Parkinson; Ana P Bartmann; Lisa M S Clayton; Suran Nethisinghe; Rolph Pfundt; J Paul Chapple; Mary M Reilly; Hadi Manji; Nicholas J Wood; Fion Bremner; Paola Giunti
Journal:  Brain       Date:  2018-04-01       Impact factor: 13.501

4.  Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.

Authors:  Patrick Yu-Wai-Man; Angela Pyle; Helen Griffin; Mauro Santibanez-Korev; Rita Horvath; Patrick F Chinnery
Journal:  Br J Ophthalmol       Date:  2014-01-23       Impact factor: 4.638

5.  Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

Authors:  Elena Garcia-Martin; Luis E Pablo; Jose Gazulla; Vicente Polo; Antonio Ferreras; Jose M Larrosa
Journal:  Br J Ophthalmol       Date:  2012-10-17       Impact factor: 4.638
  5 in total
  1 in total

Review 1.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303
  1 in total

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