Silvana De Lucia
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Explore the profile of Silvana De Lucia including associated specialties, affiliations and a list of published articles.
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11
Citations
69
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Recent Articles
1.
Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy
Chesshyre M, Ridout D, Stimpson G, Ricotti V, De Lucia S, Niks E, et al.
Dev Med Child Neurol
. 2025 Mar;
PMID: 40084496
Aim: To investigate the associations between mutations expected to differentially affect Dp140 expression and long-term trajectories of respiratory and upper-limb motor outcomes in Duchenne muscular dystrophy (DMD). Method: In a...
2.
Fontaine Carbonnel S, Dabaj I, de Montferrand C, Rippert P, Laugel V, De Lucia S, et al.
Arch Pediatr
. 2024 Sep;
31(7):410-418.
PMID: 39332946
The French Society of Pediatric Neurology and the FILNEMUS network created a working group on corticosteroid therapy in children with Duchenne muscular dystrophy in order to analyze the literature review...
3.
Anthony K, Ala P, Catapano F, Meng J, Domingos J, Perry M, et al.
Hum Gene Ther
. 2022 Dec;
34(9-10):439-448.
PMID: 36453228
Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal muscle pathology of DMD patients includes immune...
4.
Trucco F, Ridout D, Domingos J, Maresh K, Chesshyre M, Munot P, et al.
Muscle Nerve
. 2021 Oct;
65(1):67-74.
PMID: 34606104
Introduction/aims: Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD). Less is known about their association with long-term respiratory function....
5.
Elia M, Rutigliano I, Sacco M, Madeo S, Wasniewska M, Li Pomi A, et al.
Brain Sci
. 2021 Aug;
11(8).
PMID: 34439664
Prader-Willi syndrome (PWS) is a rare disease determined by the loss of the paternal copy of the 15q11-q13 region, and it is characterized by hypotonia, hyperphagia, obesity, short stature, hypogonadism,...
6.
Coratti G, Pane M, Brogna C, Ricotti V, Messina S, DAmico A, et al.
PLoS One
. 2021 Jun;
16(6):e0253882.
PMID: 34170974
Introduction: The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip...
7.
Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian A, De Lucia S, et al.
Orphanet J Rare Dis
. 2021 Jan;
16(1):3.
PMID: 33407688
Background: Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges in clinical trial design. Alternative strategies to large placebo-controlled...
8.
Dozieres-Puyravel B, Francois L, De Lucia S, Goujon E, Danse M, Auvin S
Epilepsy Behav
. 2018 Jul;
86:204-206.
PMID: 29997039
Methods: We conducted a new survey based on 10 questions to evaluate the evolution of the practice since 2008 and the thoughts of French pediatric neurologists on the barriers as...
9.
Grugni G, Crino A, De Bellis A, Convertino A, Bocchini S, Maestrini S, et al.
Endocrine
. 2018 Jul;
62(3):733-736.
PMID: 29968227
The role of antipituitary antibodies in the pathophysiology of pituitary hormone deficiency has been increasingly elucidated over the last decade. Prader-Willi syndrome is a genetic disorder which includes hypothalamic/pituitary dysfunction...
10.
Contribution of mast cells to injury mechanisms in a mouse model of pediatric traumatic brain injury
Moretti R, Chhor V, Bettati D, Banino E, De Lucia S, Le Charpentier T, et al.
J Neurosci Res
. 2016 Sep;
94(12):1546-1560.
PMID: 27614029
The cognitive and behavioral deficits caused by traumatic brain injury (TBI) to the immature brain are more severe and persistent than injuries to the adult brain. Understanding this developmental sensitivity...