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Academic Journal

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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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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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)

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

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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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MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.

Authors : Grant-Bier, Jessalyn^1,2 (AUTHOR); Ruppert, Kathryn¹ (AUTHOR); Hayward, Bruce¹ (AUTHOR)

Source: Epigenetics & Chromatin. 4/28/2025, Vol. 18 Issue 1, p1-23. 23p.

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فلترة النتائج

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

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

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

Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.

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

Regional Distribution of Ataxia-Telangiectasia Cases in Iran.

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

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

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

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.

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