Disease: Spinocerebellar ataxia- X-linked- 4
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
- Ataxias in Brazil: 17 years of experience in an ataxia center
- Ataxias with autosomal, X-chromosomal or maternal inheritance
- B and T lymphocytes in primary immunodeficiency disease in man
- Calcium channels and channelopathies of the central nervous system
- Cerebellar ataxias
- Differential diagnosis of Huntington's disease: what the clinician should know
- Genetics in movement disorders
- Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder
- Immunodeficiency and syndromes: a nosographic approach
- Intracellular calcium: physiology and physiopathology
- Malignant lymphoproliferative diseases induced by Epstein-Barr Virus in immunodeficient patients, including X-linked, cytogenetic, and familial syndromes
- Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
- Possible Role of the Polyglutamine Elongation in Evolution of Amyloid-Related Evolvability
- Primary immune deficiencies presenting in adults: seven years of experience from Iran
- Relations between immunity and malignancy
- Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
- The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations
- Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration
- Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry
- X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis