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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 21 Similar Profiles
Duchenne Muscular Dystrophy Medicine & Life Sciences
Facioscapulohumeral Muscular Dystrophy Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Dystrophin Medicine & Life Sciences
muscular dystrophy Agriculture & Biology
Limb-Girdle Muscular Dystrophies Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

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Research Output 1996 2018

  • 2086 Citations
  • 25 h-Index
  • 122 Article
  • 1 Conference contribution
  • 1 Review article
3 Citations

Chromothripsis and ring chromosome 22: A paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

Kurtas, N., Arrigoni, F., Errichiello, E., Zucca, C., Maghini, C., D'Angelo, M. G., Beri, S., Giorda, R., Bertuzzo, S., Delledonne, M., Xumerle, L., Rossato, M., Zuffardi, O. & Bonaglia, M. C., Apr 1 2018, In : Journal of Medical Genetics. 55, 4, p. 269-277 9 p.

Research output: Contribution to journalArticle

Ring Chromosomes
Exome
Haploinsufficiency
Exanthema
Alu Elements
4 Citations

Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood

LoMauro, A., Romei, M., Gandossini, S., Pascuzzo, R., Vantini, S., D'Angelo, M. G. & Aliverti, A., Feb 1 2018, In : The European respiratory journal. 51, 2

Research output: Contribution to journalArticle

Functional and structural brain damage in Friedreich's Ataxia

Vavla, M., Arrigoni, F., Nordio, A., De Luca, A., Pizzighello, S., Petacchi, E., Paparella, G., D'Angelo, M. G., Brighina, E., Russo, E., Fantin, M., Colombo, P. & Martinuzzi, A., Sep 6 2018, In : Frontiers in Neurology. 9, SEP, 747.

Research output: Contribution to journalArticle

Friedreich Ataxia
Brain
Diffusion Tensor Imaging
Magnetic Resonance Imaging
Age of Onset

Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B

Arrigoni, F., De Luca, A., Velardo, D., Magri, F., Gandossini, S., Russo, A., Froeling, M., Bertoldo, A., Leemans, A., Bresolin, N. & D'angelo, M. G., Oct 2018, In : Muscle and Nerve. 58, 4, p. 550-558 9 p.

Research output: Contribution to journalArticle

Ribcage deformity and the altered breathing pattern in children with osteogenesis imperfecta

LoMauro, A., Fraschini, P., Pochintesta, S., Romei, M., D'Angelo, M. G. & Aliverti, A., Jul 1 2018, In : Pediatric Pulmonology. 53, 7, p. 964-972 9 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Respiration
Thorax
Kyphosis
Inborn Genetic Diseases