• 161 Citations
  • 6 h-Index
20022016
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Fingerprint Dive into the research topics where Maurizio Sturnio is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Hereditary Spastic Paraplegia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences
Neural Cell Adhesion Molecule L1 Medicine & Life Sciences
Kinesin Medicine & Life Sciences
Angelman Syndrome Medicine & Life Sciences
Ubiquitin-Protein Ligases Medicine & Life Sciences

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Research Output 2002 2016

  • 161 Citations
  • 6 h-Index
  • 9 Article

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecule L1
Assays
Genes
Mutation
Paraplegia
6 Citations (Scopus)
Angelman Syndrome
Ubiquitin-Protein Ligases
Multiplex Polymerase Chain Reaction
Amplification
Genes
37 Citations (Scopus)

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia

Lo Giudice, M., Neri, M., Falco, M., Sturnio, M., Calzolari, E., Di Benedetto, D. & Fichera, M., Feb 2006, In : Archives of Neurology. 63, 2, p. 284-287 4 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Missense Mutation
Genes
Mutation
Kinesin
2 Citations (Scopus)

Denaturing HPLC-based assay for detection of ATRX gene mutations [16]

Falco, M., Luciano, D., Sturnio, M., Spalletta, A., Scionti, D., Lo Giudice, M., Romano, C. & Fichera, M., 2005, In : Clinical Chemistry. 51, 7, p. 1314-1315 2 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results (multiple letters)

Castiglia, L., Fichera, M., Romano, C., Galesi, O., Grillo, L., Sturnio, M., Failla, P., Klaassens, M., Tibboel, D., Oostra, B. A. & De Klein, A., Nov 2005, In : American Journal of Human Genetics. 77, 5, p. 892-895 4 p.

Research output: Contribution to journalArticle