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264 results

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Page 1
New mutations in TK2 gene associated with mitochondrial DNA depletion.
Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. Galbiati S, et al. Among authors: bonsignore m. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013. Pediatr Neurol. 2006. PMID: 16504786
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM. Simonati A, et al. Among authors: bonsignore m. Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018. Pediatr Neurol. 2009. PMID: 19302939
Chiari I malformation mimicking myasthenia gravis.
Rodolico C, Girlanda P, Nicolosi C, Vita G, Bonsignore M, Tortorella G. Rodolico C, et al. Among authors: bonsignore m. J Neurol Neurosurg Psychiatry. 2003 Mar;74(3):393. doi: 10.1136/jnnp.74.3.393. J Neurol Neurosurg Psychiatry. 2003. PMID: 12588944 Free PMC article. No abstract available.
[Neurobiology of autism: Study of a sample of autistic children].
Germanò E, Gagliano A, Magazù A, Calarese T, Calabrò ME, Bonsignore M, Tortorella G, Calamoneri F. Germanò E, et al. Among authors: bonsignore m. Minerva Pediatr. 2006 Apr;58(2):109-20. Minerva Pediatr. 2006. PMID: 16835571 Italian.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V. Calì F, et al. Among authors: bonsignore m. Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27838393
264 results