Literature DB >> 26142023

Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.

Semiha Kurt1, Ece Kartal2, Durdane Aksoy3, Betul Cevik3, Asli Gundogdu Eken2, Irmak Sahbaz2, A Nazli Basak2.   

Abstract

Entities:  

Keywords:  Ataxia; Autosomal recessive spastic ataxia of Charlevoix Saguenay, ARSACS; Novel mutation; Spasticity; Spondyloepiphyseal dysplasia, SED

Mesh：

Year:  2015        PMID： 26142023     DOI： 10.1016/j.jns.2015.06.050

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 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

Review 2.  Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Authors:  Jaya Bagaria; Eva Bagyinszky; Seong Soo A An
Journal:  Int J Mol Sci       Date:  2022-01-04       Impact factor: 5.923

3.  Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child.

Authors:  Faruk Incecik; Ozlem M Hergüner; Atil Bisgin
Journal:  J Pediatr Neurosci       Date:  2018 Jul-Sep
  3 in total

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