• 5443 Citations
  • 41 h-Index
1981 …2019
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Fingerprint Dive into the research topics where Maja Di Rocco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Genes Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Glycogen Storage Disease Medicine & Life Sciences
Leigh Disease Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 1981 2019

  • 5443 Citations
  • 41 h-Index
  • 244 Article
  • 5 Review article

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene

Giacomini, T., Vari, M. S., Janis, S., Prato, G., Pisciotta, L., Rocchi, A., Michelucci, A., Di Rocco, M., Gandullia, P., Mattioli, G., Sacco, O., Morana, G. & Mancardi, M. M., Oct 1 2019, In : Neuropediatrics. 50, 5, p. 327-331 5 p.

Research output: Contribution to journalArticle

Brain Diseases
Siblings
Mutation
Genes
Movement Disorders

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Gaslini Pediatric Stroke Group, Jul 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 725-728 4 p.

Research output: Contribution to journalArticle

Pseudoxanthoma Elasticum
Eye Manifestations
Angioid Streaks
Stroke
Skin Manifestations

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases

Stagnaro, M., Pisciotta, L., Gherzi, M., Di Rocco, M., Gurrieri, F., Parrini, E., Prato, G., Veneselli, E. & De Grandis, E., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 264-271 8 p.

Research output: Contribution to journalArticle

Channelopathies
Sodium-Potassium-Exchanging ATPase
Mutation
Dystonia
Movement Disorders
2 Citations (Scopus)

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki-Szymańska, A., De Meirleir, L., Di Rocco, M., Fathalla, W. M., Guffon, N., Lampe, C., Lund, A. M., Parini, R., Wijburg, F. A., Zeman, J. & Scarpa, M., Aug 1 2018, In : Acta Paediatrica, International Journal of Paediatrics. 107, 8, p. 1402-1408 7 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Kyphosis
Therapeutics
Metabolic Diseases
Contracture
8 Citations (Scopus)

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., Haudry, C., Castanet, M., Leroux, J., Bonnefont, J. P., Munnich, A., Baujat, G., Lapunzina, P., Monnot, S., Ruiz-Perez, V. L. & Cormier-Daire, V., Apr 1 2018, In : Journal of Medical Genetics. 55, 4, p. 278-284 7 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Mutation
Exome
Lower Extremity
Nucleotidyltransferases