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Page 1
Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia.
Abdel-Mannan O, D'Argenzio L, Pitt M, D'Arco F, Bhate S, Hacohen Y, Kaliakatsos M. Abdel-Mannan O, et al. Among authors: d argenzio l. Child Neurol Open. 2019 Jun 16;6:2329048X19856778. doi: 10.1177/2329048X19856778. eCollection 2019. Child Neurol Open. 2019. PMID: 31259196 Free PMC article.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Among authors: d argenzio l. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium; Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F. Ullmann U, et al. Among authors: d argenzio l. Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30. Neuromuscul Disord. 2018. PMID: 30131190
Seizure outcome after extratemporal epilepsy surgery in childhood.
D'Argenzio L, Colonnelli MC, Harrison S, Jacques TS, Harkness W, Scott RC, Cross JH. D'Argenzio L, et al. Dev Med Child Neurol. 2012 Nov;54(11):995-1000. doi: 10.1111/j.1469-8749.2012.04381.x. Epub 2012 Jul 22. Dev Med Child Neurol. 2012. PMID: 22816374 Free article.
Cognitive outcome after extratemporal epilepsy surgery in childhood.
D'Argenzio L, Colonnelli MC, Harrison S, Jacques TS, Harkness W, Vargha-Khadem F, Scott RC, Cross JH. D'Argenzio L, et al. Epilepsia. 2011 Nov;52(11):1966-72. doi: 10.1111/j.1528-1167.2011.03272.x. Epilepsia. 2011. PMID: 22032791 Free article.
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.
Silwal A, Sarkozy A, Scoto M, Ridout D, Schmidt A, Laverty A, Henriques M, D'Argenzio L, Main M, Mein R, Manzur AY, Abel F, Al-Ghamdi F, Genetti CA, Ardicli D, Haliloglu G, Topaloglu H, Beggs AH, Muntoni F. Silwal A, et al. Among authors: d argenzio l. Ann Clin Transl Neurol. 2020 Nov;7(11):2288-2296. doi: 10.1002/acn3.51218. Epub 2020 Oct 10. Ann Clin Transl Neurol. 2020. PMID: 33037864 Free PMC article.
Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex.
D'Argenzio L, Koch G, Bombardieri R, Mori F, Moavero R, Centonze D, Curatolo P. D'Argenzio L, et al. Epilepsy Res. 2009 Nov;87(1):102-5. doi: 10.1016/j.eplepsyres.2009.07.009. Epub 2009 Aug 26. Epilepsy Res. 2009. PMID: 19713078
21 results