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323 results

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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Iacomino M, Baldassari S, Tochigi Y, Kośla K, Buffelli F, Torella A, Severino M, Paladini D, Mandarà L, Riva A, Scala M, Balagura G, Accogli A, Nigro V, Minetti C, Fulcheri E, Zara F, Bednarek AK, Striano P, Suzuki H, Salpietro V. Iacomino M, et al. Among authors: nigro v. Front Neurosci. 2020 Jun 11;14:644. doi: 10.3389/fnins.2020.00644. eCollection 2020. Front Neurosci. 2020. PMID: 32581702 Free PMC article.
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: nigro v. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C. Fanin M, et al. Among authors: nigro v. Muscle Nerve. 2015 Aug;52(2):305-6. doi: 10.1002/mus.24539. Epub 2015 Jun 7. Muscle Nerve. 2015. PMID: 25487718 No abstract available.
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V. Savarese M, et al. Among authors: nigro v. Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. Neuromuscul Disord. 2016. PMID: 27017278 Free PMC article.
GYG1 gene mutations in a family with polyglucosan body myopathy.
Fanin M, Torella A, Savarese M, Nigro V, Angelini C. Fanin M, et al. Among authors: nigro v. Neurol Genet. 2015 Sep 24;1(3):e21. doi: 10.1212/NXG.0000000000000021. eCollection 2015 Oct. Neurol Genet. 2015. PMID: 27066558 Free PMC article.
Inflammatory myopathy in a patient with collagen VI mutations.
Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P. Papa R, et al. Among authors: nigro v. Scand J Rheumatol. 2018 Mar;47(2):166-167. doi: 10.1080/03009742.2016.1274423. Epub 2017 Jan 18. Scand J Rheumatol. 2018. PMID: 28097933 No abstract available.
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: nigro v. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: nigro v. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Among authors: nigro v. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
323 results