15 results on '"M.Muglia"'
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2. A splice-junction mutation in Sbf2 gene causes autosomal recessive Charcot-Marie-Tooth disease (CMT4B2) in a family from southern Italy
3. A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers
4. Eight novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1 (NF1) gene in southern Italian NF1 patients
5. Splice-Junction Mutation In Sbf2 Gene Causes Autosomal Recessive Charcot-Marie-Tooth Disease (CMT4B2) In A Family from Southern Italy
6. Identificazione di una nuova mutazione nel sito di splicing del gene Sbf2 responsabile di Charcot-Marie-Tooth autosomica recessiva (CMT4B2)
7. Eight novel mutations revealed by means of DHPLC mutational analysis of the Neurofibromatosis type I (NF1) gene in NF1 patients from Sicily and Calabria (Southern Italy)
8. Clinical and genetic study of an Italian Family with a new form of Autosomal Dominant Complicated Spastic Paraplegia
9. Screening delle mutazioni del gene NOTCH3 in famiglie CADASIL provenienti dal sud Italia
10. Notch3 mutations in families with CADASIL from Southern Italy
11. Diagnosi di CMT e HNPP con PCR quantitativa Real time
12. Diagnosis of haploid and triploid based on measurement of gene copy number in CMT and HNPP
13. Caratterizzazione dei portatori sani SMA con Real time PCR
14. A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP)
15. Studio clinico e genetico di una famiglia italiana affetta da una nuova forma di Paraparesi Spastica autosomica dominante complicata
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