نتائج البحث

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

• Authors : Badalzadeh, Mohsen^1,2; Bavani, Maryam Soleimani^1,2; Alizadeh, Zahra^1,2

• Source: Iranian Journal of Allergy, Asthma & Immunology. Apr2025, Vol. 24 Issue 2, p187-197. 11p.

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Fingolimod Prevents Neuroinflammation but Has a Limited Effect on the Development of Ataxia in a Mouse Model for SCA1.

• Authors : Yang, Chen¹ (AUTHOR); Gravendeel, Nienke¹ (AUTHOR); On, Amy Chin¹ (AUTHOR)

Subjects: *Spinocerebellar ataxia; *Treatment effectiveness; *Cerebellum degeneration

• Source: International Journal of Molecular Sciences. May2025, Vol. 26 Issue 10, p4698. 22p.

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Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

• Authors : Potashman, Michele¹ (AUTHOR) ; Rudell, Katja² (AUTHOR); Suminski, Naomi² (AUTHOR)

• Source: Neurology & Therapy. Apr2025, Vol. 14 Issue 2, p547-563. 17p.

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Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

• Authors : Kumar, Hari Shankar^1,2 (AUTHOR) ; Shah, Nidhi³ (AUTHOR); Shah, Parth³ (AUTHOR)

• Source: Neurology India. May/Jun2025, Vol. 73 Issue 3, p513-518. 6p.

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RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe

• Authors : AbbVie; Friedreich's Ataxia Research Alliance

• Source: A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe)Lynch DR, Chin MP, Delatycki MB, Subramony

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Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.

• Authors : Yuan, Pubing^1,2 (AUTHOR); Huang, Yonghua^3,4,5 (AUTHOR); Dai, Minghui^1,2 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 6/4/2025, Vol. 20 Issue 1, p1-10. 10p.

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Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

• Authors : Potashman, Michele H.¹ (AUTHOR) ; Popoff, Evan² (AUTHOR); Powell, Lauren C.² (AUTHOR)

• Source: Neurology & Therapy. Apr2025, Vol. 14 Issue 2, p527-545. 19p.

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Regional Distribution of Ataxia-Telangiectasia Cases in Iran.

• Authors : Vakilipour, Pouya¹; Firouzabadi, Ayda^1,2; Rezaei, Nima^1,3

• Source: Immunology & Genetics Journal. 2025, Vol. 8 Issue 3, p288-294. 7p.

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Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.

• Authors : Schiffmann, Raphael¹ (AUTHOR); Turnbull, James² (AUTHOR); Krupnick, Robert³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/10/2025, Vol. 20 Issue 1, p1-12. 12p.

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Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome Coexisting With JAK2-Positive Polycythemia Vera and Myelofibrosis.

• Authors : Saibaba, Jayaram¹; Selvaraj, Jayachandran²; Viswanathan, Stalin²

• Source: Ochsner Journal. Mar2025, Vol. 25 Issue 1, p50-53. 4p.

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