Disease: Spinocerebellar ataxia- X-linked- 2
- A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages
- A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration
- Adverse reactions of prophylactic intravenous immunoglobulin infusions in Iranian patients with primary immunodeficiency
- An Overview of the Current State and the Future of Ataxia Treatments
- Ataxias in Brazil: 17 years of experience in an ataxia center
- Ataxias with autosomal, X-chromosomal or maternal inheritance
- Autophagy and Polyglutamine Disease
- Calcium channels and channelopathies of the central nervous system
- Cerebellar disorders: clinical/radiologic findings and modern imaging tools
- 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
- Differential diagnosis of Huntington's disease: what the clinician should know
- Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy
- Dynamic mutations: where are they now?
- Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
- Genetic cerebellar ataxias
- Genetics in movement disorders
- Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia
- Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases
- Huda Zoghbi
- Intracellular calcium: physiology and physiopathology
- Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy
- Molecular basis and diagnosis of neurogenetic disorders
- Molecular genetics of hereditary ataxias
- Molecular pathogenesis of motor neuron diseases
- MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
- Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
- Polyglutamine (PolyQ) diseases: genetics to treatments
- Primary immune deficiency among patients with recurrent infections
- Proteasomal and autophagic degradative activities in spinal and bulbar muscular atrophy
- Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
- Screening for the FMR1 premutation in Greek patients with late-onset movement disorders
- Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases
- The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology
- 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)
- Triplet repeat gene sequences in neuropsychiatric diseases
- Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
- X-linked adrenoleukodystrophy with olivopontocerebellar atrophy
- X-linked adrenoleukodystrophy: spinocerebellar variant
- X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis
- X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
- Zebrafish Models of Autosomal Dominant Ataxias