35 results on '"Sprovieri, Teresa"'
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2. A novel S379A TARDBP mutation associated to late-onset sporadic ALS
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3. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
4. ALS and CHARGE syndrome: a clinical and genetic study
5. Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis
6. Mercury toxicity and amyotrophic lateral sclerosis
7. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
8. Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
9. Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
10. Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria
11. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
12. Contribution of Cerebrospinal Fluid Thymosin β4 Levels to the Clinical Differentiation of Creutzfeldt-Jakob Disease
13. Proteomic profiling of cerebrospinal fluid in Creutzfeldt–Jakob disease
14. Comparison of different techniques for detecting 17p12 duplication in CMT1A
15. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy
16. Alternative Splicing of ALS Genes: Misregulation and Potential Therapies
17. A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy
18. A prospective study of residual-disease monitoring of theALL1/AF4 transcript in patients with t(4;11) acute lymphoblastic leukemia
19. Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
20. The Spectrum of ROBO3 Mutations in Horizontal Gaze Palsy with Progressive Scoliosis: An Update
21. Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria
22. Quantification of thymosin β4 in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
23. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
24. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy
25. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
26. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
27. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
28. Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis
29. A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography
30. Interstitial Insertion of AF10 into the ALL1 Gene in a Case of Infant Acute Lymphoblastic Leukemia
31. Quantification of thymosin β4 in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
32. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
33. ALS and CHARGE syndrome: a clinical and genetic study
34. Gene symbol: NOTCH3. Disease: CADASIL.
35. Gene symbol: MECP2. Disease: Rett syndrome.
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