Disease: Spinocerebellar ataxia- X-linked- 3
- An Overview of the Current State and the Future of Ataxia Treatments
- Autoimmunity in the relatives of patients with immunodeficiency diseases
- Autophagy and Polyglutamine Disease
- Calcium channelopathies
- Case Report: Identification of a novel <em>CASK</em> missense variant in a Chinese family with MICPCH
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
- Cone rod dystrophies
- Current concepts in the treatment of hereditary ataxias
- Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy
- Differential diagnosis of Huntington's disease: what the clinician should know
- From degeneration to anticipation. Systematic and historical scientific aspects of the genetics of neuropsychiatric diseases
- Genetic cerebellar ataxias
- Genetics in movement disorders
- Hereditary ataxias
- Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia
- Human thymus lymphoid tissue (HTL) antigen, complement receptor and rosette formation with sheep erythrocytes of the lymphocytes from primary immunodeficiency diseases
- Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy
- Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
- Machado-Joseph disease and other rare spinocerebellar ataxias
- Malignant lymphoproliferative diseases induced by Epstein-Barr Virus in immunodeficient patients, including X-linked, cytogenetic, and familial syndromes
- Mitochondrial <em>PITRM1</em> peptidase loss-of-function in childhood cerebellar atrophy
- Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene
- Molecular genetics and biomarkers of polyglutamine diseases
- Molecular genetics of hereditary ataxias
- Molecular pathogenesis of motor neuron diseases
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
- Overcoming neurological diseases-breakthrough for new era
- Overview of Hereditary Spinocerebellar Ataxias in Japan
- Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
- Primary immune deficiency among patients with recurrent infections
- Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing
- Pulmonary complications of primary immunodeficiencies
- Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
- The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
- The neuropathology of CAG repeat diseases: review and update of genetic and molecular features
- Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration
- Triplet repeat disease, with particular emphasis of spinal and bulbar muscular atrophy (SBMA)
- Usefulness of monoclonal antibodies in the diagnosis and monitoring of patients with primary immunodeficiencies: combined experience in three clinical immunology centers
- Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
- X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis