User profiles for "author:Eugenio Mercuri"
 | Eugenio MercuriCatholic University Verified email at unicatt.it Cited by 47223 |
[HTML][HTML] Duchenne muscular dystrophy
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads
to difficulties with movement and, eventually, to the need for assisted ventilation and …
to difficulties with movement and, eventually, to the need for assisted ventilation and …
[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births …
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births …
[HTML][HTML] Spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
[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 …
that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is …
[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 …
messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been …
Origin and timing of brain lesions in term infants with neonatal encephalopathy
F Cowan, M Rutherford, F Groenendaal, P Eken… - The Lancet, 2003 - thelancet.com
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 …
M Brockington, DJ Blake, P Prandini, SC Brown… - The American Journal of …, 2001 - cell.com
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal
recessive disorders presenting in infancy with muscle weakness, contractures, and …
recessive disorders presenting in infancy with muscle weakness, contractures, and …
[BOOK][B] The neurological assessment of the preterm and full-term newborn infant
LMS Dubowitz, V Dubowitz, E Mercuri - 1999 - books.google.com
Clinics in Developmental Medicine No. 148 This is the second edition of the manual
describing a popular and practical tool for the clinical neurological examination of the …
describing a popular and practical tool for the clinical neurological examination of the …
[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 …
Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …