• 970 Citations
  • 8 h-Index
20012018
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Fingerprint Dive into the research topics where Mariangela Lo Giudice is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 20 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Prenatal Diagnosis Medicine & Life Sciences

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Research Output 2001 2018

  • 970 Citations
  • 8 h-Index
  • 19 Article

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

Salemi, M., Giambirtone, M., Barone, C., Salluzzo, M. G., Russo, R., Giudice, M. L., Ridolfo, F. & Romano, C., 2018, In : Human Cell. 31, 2, p. 179-181 3 p.

Research output: Contribution to journalArticle

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Salvatore, S., Berti, G., Malandrini, A., Bottitta, M., Musumeci, S. A. & Scuderi, C., May 2016, In : Neurological Sciences. 37, 5, p. 805-7 3 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Salvatore, S., Berti, G., Malandrini, A., Bottitta, M., Musumeci, S. A. & Scuderi, C., Dec 23 2015, (Accepted/In press) In : Neurological Sciences. p. 1-3 3 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

Scuderi, C., Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Giambirtone, M., Di Blasi, F. D., Elia, M., Amato, C., Città, S., Gagliano, C., Barbarino, G., Vitello, G. A. & Musumeci, S. A., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 333-339 7 p.

Research output: Contribution to journalArticle

Mutation
Muscular Diseases
Siblings
Exons
Genetic Association Studies
7 Citations (Scopus)
Genes
Phenotype
X Chromosome Inactivation
Comparative Genomic Hybridization
Gene Rearrangement