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Marika Pane

20182019
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Fingerprint Dive into the research topics where Marika Pane is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Duchenne Muscular Dystrophy Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
muscular dystrophy Agriculture & Biology
Spinal Muscular Atrophy Medicine & Life Sciences
Natural History Medicine & Life Sciences
Upper Extremity Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Observational Studies Medicine & Life Sciences

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Research Output 2018 2019

A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

ISMAc group, Dec 2019, In : Neuromuscular Disorders. 29, 12, p. 940-950 11 p.

Research output: Contribution to journal › Review article

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 journal › Article

Ryanodine Receptor Calcium Release Channel
Muscular Diseases
Phenotype
Muscles
Distal Myopathies

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journal › Article

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Longitudinal natural history in young boys with Duchenne muscular dystrophy

Coratti, G., Brogna, C., Norcia, G., Ricotti, V., Abbott, L., D'Amico, A., Berardinelli, A., Vita, G. L., Lucibello, S., Messina, S., Sansone, V., Albamonte, E., Colia, G., Salmin, F., Gardani, A., Manzur, A., Main, M., Baranello, G., Arnoldi, M. T., Parsons, J. & 6 others, Carry, T., Connolly, A. M., Bertini, E., Muntoni, F., Pane, M. & Mercuri, E., 2019, In : Neuromuscular Disorders. 29, (11), p. 857-862 6 p.

Research output: Contribution to journal › Article

Duchenne Muscular Dystrophy
Natural History
Adrenal Cortex Hormones
Mutation
Disease Progression

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, C., Coratti, G., Pane, M., Ricotti, V., Messina, S., D’Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

Research output: Contribution to journal › Article