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Keywords: Hereditary spastic paraplegia
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Journal Articles

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling

Subject Area:
Genetics
Rojan İpek, Mustafa Kömür, Meltem Çobanoğulları Direk, Sevcan Tuğ Bozdoğan, Çetin Okuyaz
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (4): 297–302.
https://doi.org/10.1159/000536183
Published Online: 23 February 2024
...Rojan İpek; Mustafa Kömür; Meltem Çobanoğulları Direk; Sevcan Tuğ Bozdoğan; Çetin Okuyaz Introduction: Hereditary spastic paraplegia ( SPG ) is a genetically and clinically heterogeneous group of rare neurodegenerative disorders. SPG45 is the AR inherited type of complicated SPG, which is due...
View articletitled, Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling
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Journal Articles

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aida Ghasemi, Zahra Sadr, Mojgan Babanejad, Mohammad Rohani, Afagh Alavi
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 477–484.
https://doi.org/10.1159/000531507
Published Online: 07 July 2023
... of whole-exome sequencing (WES) data. We performed WES-based CNV identification in a cohort of 35 Iranian families with hereditary spastic paraplegia (HSP) patients. Methods: Thirty-five patients whose routine single-nucleotide variants (SNVs) and insertion/deletion analyses from exome data were...
View articletitled, Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
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Journal Articles

Description of Phenotypic Heterogeneity in a GJC2 -Related Family and Literature Review

Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aida Ghasemi, Ali Reza Tavasoli, Mana Khojasteh, Mohammad Rohani, Afagh Alavi
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (5): 405–415.
https://doi.org/10.1159/000529678
Published Online: 30 March 2023
...-onset hypomyelinating leukodystrophy, and rarely some milder phenotypes like hereditary spastic paraplegia (HSP) type 44 (SPG44) and subclinical leukodystrophy. Herein, we report an Iranian GJC2 -related family with intrafamilial phenotypic heterogeneity and review the literatures. Methods: Whole-exome...
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