User profiles for E. Mercuri
 | Eugenio MercuriCatholic University Verified email at unicatt.it Cited by 47677 |
[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
… Author links open overlay panel Eugenio Mercuri a b 1 , Richard S. Finkel c 1 , Francesco
Muntoni d , Brunhilde Wirth e , Jacqueline Montes f , Marion Main d , Elena S. Mazzone a b , …
Muntoni d , Brunhilde Wirth e , Jacqueline Montes f , Marion Main d , Elena S. Mazzone a b , …
[HTML][HTML] Duchenne muscular dystrophy
… (HE) staining shows centrally nucleated myofibers, inflammatory cell infiltration, variable
myofiber size, and endomysium and perimysium connective tissue deposition (panels a and e). …
myofiber size, and endomysium and perimysium connective tissue deposition (panels a and e). …
[HTML][HTML] Spinal muscular atrophy
… Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali
M, Bertini E, Mercuri E: Feeding problems and malnutrition in spinal muscular atrophy type II. …
M, Bertini E, Mercuri E: Feeding problems and malnutrition in spinal muscular atrophy type II. …
[HTML][HTML] Nusinersen versus sham control in infantile-onset spinal muscular atrophy
Background Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that
is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an …
is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an …
[HTML][HTML] Nusinersen versus sham control in later-onset spinal muscular atrophy
Background Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger
RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the …
RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the …
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Emery‐Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the
elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life‐…
elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life‐…
[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ …
This is the second half of a two-part document updating the standard of care
recommendations for spinal muscular atrophy published in 2007. This part includes updated …
recommendations for spinal muscular atrophy published in 2007. This part includes updated …
Longitudinal effect of eteplirsen versus historical control on ambulation in D uchenne muscular dystrophy
…, K Berry, J Shao, EM Kaye, E Mercuri… - Annals of …, 2016 - Wiley Online Library
Objective To continue evaluation of the long‐term efficacy and safety of eteplirsen, a
phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with …
phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with …
Origin and timing of brain lesions in term infants with neonatal encephalopathy
Background The role of intrapartum asphyxia in neonatal encephalopathy and seizures in
term infants is not clear, and antenatal factors are being implicated in the causal pathway for …
term infants is not clear, and antenatal factors are being implicated in the causal pathway for …
[PDF][PDF] Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal …
…, B Estournet, NB Romero, E Mercuri… - The American Journal of …, 2001 - cell.com
… Predicted secondary structures are indicated below the alignment (e/E, extended or b-strand
structure; h/H, helix). Residue numbers and GeneInfo identifiers (or else cosmid names) are …
structure; h/H, helix). Residue numbers and GeneInfo identifiers (or else cosmid names) are …
