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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. Among authors: falace a. 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
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: falace a. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109
Do regulatory regions matter in FOXG1 duplications?
Falace A, Vanni N, Mallamaci A, Striano P, Zara F. Falace A, et al. Eur J Hum Genet. 2013 Apr;21(4):365-6. doi: 10.1038/ejhg.2012.142. Epub 2012 Jul 4. Eur J Hum Genet. 2013. PMID: 22763380 Free PMC article. No abstract available.
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F. Vanni N, et al. Among authors: falace a. Ann Neurol. 2014 Aug;76(2):206-12. doi: 10.1002/ana.24170. Epub 2014 May 20. Ann Neurol. 2014. PMID: 24782409
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: falace a. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
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