14 results on '"Sarto, Elisa"'
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2. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
3. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
4. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
5. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance
6. Hypomyelinating leukodystrophies in adults: Clinical and genetic features
7. Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature
8. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
9. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12
10. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
11. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
12. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
13. Somatosensory Conduction Pathway in Spastic Paraplegia Type 5
14. Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant
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