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Fingerprint Dive into the research topics where Eugenio Maria Mercuri is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles
Duchenne Muscular Dystrophy Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Natural History Medicine & Life Sciences
Mutation Medicine & Life Sciences
Upper Extremity Medicine & Life Sciences

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Research Output 2018 2020

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, Mercuri, E., Kynčl, M., Walter, M. C. & Carlier, R. Y., Jan 2020, In : Journal of Neurology. 267, 1, p. 45-56 12 p.

Research output: Contribution to journalArticle

Magnetic Resonance Imaging
Muscles
Calpain
Disease Progression
Lower Extremity
Spinal Muscular Atrophy
Activities of Daily Living
Caregivers
Quality of Life
Age Groups

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., Apr 2 2019, In : Neurology. 92, 14, p. e1600-e1609

Research output: Contribution to journalArticle

Ryanodine Receptor Calcium Release Channel
Muscular Diseases
Phenotype
Muscles
Distal Myopathies

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

Muntoni, F., Desguerre, I., Guglieri, M., Osorio, A. N., Kirschner, J., Tulinius, M., Buccella, F., Elfring, G., Werner, C., Schilling, T., Trifillis, P., Zhang, O., Delage, A., Santos, C. L. & Mercuri, E., Oct 2019, In : Journal of Comparative Effectiveness Research. 8, 14, p. 1187-1200 14 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Nonsense Codon
Registries
Demography
Databases

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Sprovieri, T., Ungaro, C., Sivo, S., Quintiliani, M., Contaldo, I., Veredice, C., Citrigno, L., Muglia, M., Cavalcanti, F., Cavallaro, S., Mercuri, E. & Battaglia, D., Mar 12 2019, In : BMC Medical Genetics. 20, 1, p. 40

Research output: Contribution to journalArticle

Siblings
Mutation
Startle Reflex
Fathers
Stiff-Person Syndrome