31 results on '"Mostacciuolo, M.L."'
Search Results
2. A locus for migraine without aura maps on chromosome 14q21.2-q22.3. (Report)
3. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
4. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
5. A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy
6. A novel mitofusin 2 MFN2 gene mutation causing early onset Charcot-Marie-Tooth 2A disease: Genetic, clinical and MR spectroscopy characterization
7. P.12.2 Dominant distal myopathy due to slow channelopathy
8. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
9. Prevalence of Inherited Ataxias in the Province of Padua, Italy
10. Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28
11. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
12. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
13. Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
14. A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28
15. CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22
16. Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results
17. Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy
18. Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats
19. Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
20. Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy
21. Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1
22. Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)
23. (CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients
24. Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis
25. Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene
26. Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population
27. PMP22 related congenital hypomyelination neuropathy
28. (CTG)nTriplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients
29. SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2SPLICING MUTATION
30. P.12.2 Dominant distal myopathy due to slow channelopathy.
31. SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION
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