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Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes.

• Authors : Wawrocka, Anna¹ (AUTHOR) ; Walczak-Sztulpa, Joanna¹ (AUTHOR) ; Kuszel, Lukasz¹ (AUTHOR)

Subjects: *RETINITIS pigmentosa; *ATAXIA; *SYMPTOMS

• Source: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5759. 12p.

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Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.

• Authors : In Lee, Jae^1,2 (AUTHOR); Choi, Ja Young^1,2 (AUTHOR); Yang, Shin‐Seung^1,2 (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-9. 9p.

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Precise editing of pathogenic nucleotide repeat expansions in iPSCs using paired prime editor.

• Authors : Hwang, Hye-Yeon¹ (AUTHOR); Gim, Dongmin^2,3 (AUTHOR); Yi, Hwalin¹ (AUTHOR)

Subjects: *SPINOCEREBELLAR ataxia; *INDUCED pluripotent stem cells; *SPINAL muscular atrophy

• Source: Nucleic Acids Research. 6/10/2024, Vol. 52 Issue 10, p5792-5803. 12p.

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Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1.

• Authors : Shi, YuZhi¹ (AUTHOR); Zhang, Kang¹ (AUTHOR); Dong, GeHong² (AUTHOR)

• Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p800-805. 6p.

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Development of a Polymeric Pharmacological Nanocarrier System as a Potential Therapy for Spinocerebellar Ataxia Type 7.

• Authors : Borbolla-Jiménez, Fabiola V.^1,2 (AUTHOR) ; García-Aguirre, Ian A.^3,4 (AUTHOR) ; Del Prado-Audelo, María Luisa³ (AUTHOR)

• Source: Cells (2073-4409). Dec2023, Vol. 12 Issue 23, p2735. 23p.

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Anesthetic Chalenges And Managment In Patient With Ataxia- Telangiectasia.

• Authors : Jovanovski-Srceva, Marija^1,2 (NURSE) ; Kondov, Goran^2,3 (NURSE); Kartalov, Andrijan^1,2 (NURSE)

• Source: Contributions / Prilozi (1857-9345). Dec2023, Vol. 44 Issue 3, p65-71. 7p.

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Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application.

• Authors : Maheshwari, Saumya¹ (AUTHOR); Vilema-Enríquez, Gabriela¹ (AUTHOR); Wade-Martins, Richard¹ (AUTHOR)

• Source: Translational Neurodegeneration. 9/20/2023, Vol. 12 Issue 1, p1-23. 23p.

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Phenotypic defects from the expression of wild-type and pathogenic TATA-binding proteins in new Drosophila models of Spinocerebellar Ataxia Type 17.

• Authors : Patel, Nikhil¹; Alam, Nadir¹; Libohova, Kozeta¹

• Source: G3: Genes | Genomes | Genetics. Oct2023, Vol. 13 Issue 10, p1-12. 12p.

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Spinocerebellar ataxia type 11 (SCA11): An update.

• Authors : Gong, Ziwei¹ (AUTHOR); Lei, Lifang¹ (AUTHOR)

• Source: European Journal of Neuroscience. Jul2023, Vol. 58 Issue 2, p2623-2640. 18p. 1 Diagram, 8 Charts, 3 Graphs.

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Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.

• Authors : Maass, Fabian¹ (AUTHOR) ; Jamous, Ala² (AUTHOR); Biskup, Saskia³ (AUTHOR)

• Source: Movement Disorders Clinical Practice. Jun2023, Vol. 10 Issue 6, p1016-1019. 4p.

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