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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 2
2012 2
2013 2
2014 3
2015 4
2016 5
2017 4
2018 2
2019 1
2020 1
2021 1
2023 1
2024 1

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29 results

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Page 1
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Among authors: d ambrosio p. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
Genetic counseling in Pompe disease.
Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Taglia A, et al. Among authors: d ambrosio p. Acta Myol. 2011 Dec;30(3):179-81. Acta Myol. 2011. PMID: 22616199 Free PMC article.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Onore ME, Torella A, Musacchia F, D'Ambrosio P, Zanobio M, Del Vecchio Blanco F, Piluso G, Nigro V. Onore ME, et al. Among authors: d ambrosio p. Genes (Basel). 2021 Jan 21;12(2):133. doi: 10.3390/genes12020133. Genes (Basel). 2021. PMID: 33494189 Free PMC article.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA. Fontana P, et al. Among authors: d ambrosio p. Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111183
Cardiac involvement in patients with spinal muscular atrophies.
Palladino A, Passamano L, Taglia A, D'Ambrosio P, Scutifero M, Cecio MR, Picillo E, Viggiano E, Torre V, De Luca F, Nigro G, Politano L. Palladino A, et al. Among authors: d ambrosio p. Acta Myol. 2011 Dec;30(3):175-8. Acta Myol. 2011. PMID: 22616198 Free PMC article.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: d ambrosio p. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
29 results