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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M. Traverso M, et al. Eur J Hum Genet. 2024 Mar;32(3):342-349. doi: 10.1038/s41431-023-01516-4. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177406
Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested. ...
Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG …
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
Intranasal brain delivery of cationic nanoemulsion-encapsulated TNFalpha siRNA in prevention of experimental neuroinflammation.
Yadav S, Gandham SK, Panicucci R, Amiji MM. Yadav S, et al. Nanomedicine. 2016 May;12(4):987-1002. doi: 10.1016/j.nano.2015.12.374. Epub 2016 Jan 6. Nanomedicine. 2016. PMID: 26767514 Free PMC article.
Upon intranasal delivery of cationic nanoemulsions almost 5 fold higher uptake was observed in the rat brain compared to non-encapsulated siRNA. More importantly, intranasal delivery of TNFalpha siRNA nanoemulsions in vivo markedly reduced the unregulated levels of TNFalph …
Upon intranasal delivery of cationic nanoemulsions almost 5 fold higher uptake was observed in the rat brain compared to non-encapsul …
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C. Panicucci C, et al. JIMD Rep. 2018;38:23-31. doi: 10.1007/8904_2017_25. Epub 2017 Apr 30. JIMD Rep. 2018. PMID: 28456886 Free PMC article.
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (alpha- …
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pat …
Comparative Biodistribution and Pharmacokinetic Analysis of Cyclosporine-A in the Brain upon Intranasal or Intravenous Administration in an Oil-in-Water Nanoemulsion Formulation.
Yadav S, Gattacceca F, Panicucci R, Amiji MM. Yadav S, et al. Mol Pharm. 2015 May 4;12(5):1523-33. doi: 10.1021/mp5008376. Epub 2015 Mar 31. Mol Pharm. 2015. PMID: 25785492
CsA-NE IN resulted in the highest accumulation compared to that with any other treatment and route of administration; this was consistent for all three regions of brain that were evaluated (olfactory bulbs, mid brain, and hind brain). The brain/blood e …
CsA-NE IN resulted in the highest accumulation compared to that with any other treatment and route of administration; this was consistent fo …
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
Coratti G, Lenkowicz J, Norcia G, Lucibello S, Ferraroli E, d'Amico A, Bello L, Pegoraro E, Messina S, Ricci F, Mongini T, Berardinelli A, Masson R, Previtali SC, D'angelo G, Magri F, Comi GP, Politano L, Passamano L, Vita G, Sansone VA, Albamonte E, Panicucci C, Bruno C, Pini A, Bertini E, Patarnello S, Pane M, Mercuri E; italian DMD study group. Coratti G, et al. PLoS One. 2022 Jul 29;17(7):e0271681. doi: 10.1371/journal.pone.0271681. eCollection 2022. PLoS One. 2022. PMID: 35905042 Free PMC article.
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age …
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor …
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.
Panicucci C, Casalini S, Damasio BM, Brolatti N, Pedemonte M, Biolcati Rinaldi A, Morando S, Doglio L, Raffaghello L, Fiorillo C, Zara F, Tasca G, Bruno C. Panicucci C, et al. Brain Dev. 2023 May;45(5):306-313. doi: 10.1016/j.braindev.2023.01.010. Epub 2023 Feb 14. Brain Dev. 2023. PMID: 36797079
Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading to loss of ambulation in the second decade in one patient, and cognitive impairment without detectable brain structural abnormalities. Glutei, paraspinal, and adductor mus …
Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading to loss of ambulation in the second de …
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine.
Panicucci E, Cohen M, Bourg V, Rocher F, Thomas P, Lebrun C. Panicucci E, et al. Mult Scler. 2019 Apr;25(4):618-621. doi: 10.1177/1352458518790379. Epub 2018 Oct 30. Mult Scler. 2019. PMID: 30375922
METHODS: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging (MRI) showed diffuse cortical and subcortical atrophy without active inflammatory lesions. ...
METHODS: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging …
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332
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