Literature DB >> 29610238

Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.

Asthik Biswas1, Mugil Varman1, Sangeetha Yoganathan1, Patel Khushboo Subhash1, Sunithi Mani2.   

Abstract

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Year:  2018        PMID： 29610238     DOI： 10.1212/WNL.0000000000005252

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  5 in total

Review 1.  A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Authors:  Georgia Xiromerisiou; Katerina Dadouli; Chrysoula Marogianni; Antonios Provatas; Panagiotis Ntellas; Dimitrios Rikos; Pantelis Stathis; Despina Georgouli; Gedeon Loules; Maria Zamanakou; Georgios M Hadjigeorgiou
Journal:  J Mol Neurosci       Date:  2019-11-07       Impact factor: 3.444

2.  Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms.

Authors:  Aleksandra Klimkowicz-Mrowiec; Anna Dziubek; Małgorzata Sado; Marek Karpiński
Journal:  Neurol Sci       Date:  2021-10-24       Impact factor: 3.307

Review 3.  Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.

Authors:  Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti
Journal:  Neuroradiology       Date:  2021-03-17       Impact factor: 2.804

4.  Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.

Authors:  Federica Morani; Stefano Doccini; Daniele Galatolo; Francesco Pezzini; Rabah Soliymani; Alessandro Simonati; Maciej M Lalowski; Federica Gemignani; Filippo M Santorelli
Journal:  Biomolecules       Date:  2022-07-24

5.  Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings.

Authors:  Maria Claudia Pensabene; Milena Melis; Laura De Corato; Carla Di Stefano; Giulia Pizzicannella; Mariateresa Mondillo; Andrea Amico; Doriana Tatulli; Roberto Floris
Journal:  Radiol Case Rep       Date:  2020-02-25
  5 in total

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