21 results on '"Sarto, Elisa"'
Search Results
2. Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
3. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
4. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
5. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
6. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
7. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
8. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
9. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
10. Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant
11. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
12. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance
13. Hypomyelinating leukodystrophies in adults: Clinical and genetic features
14. Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature
15. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
16. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12
17. Digenic inheritance of STUB1variants and TBPpolyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
18. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
19. Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
20. Somatosensory Conduction Pathway in Spastic Paraplegia Type 5
21. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
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