Maurizio De Fusco[Author] - Search Results

Year	Number of Results
2002	1
2003	2
2004	1
2005	2
2006	1
2007	1
2008	1
2011	1
2014	1
2016	1
2019	1
2022	1
2023	1
2024	0

1

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Schaeffer C, De Fusco M, Pasqualetto E, Scolari C, Izzi C, Scolari F, Rampoldi L. Schaeffer C, et al. Among authors: de fusco m. Dis Model Mech. 2023 Jun 1;16(6):dmm049963. doi: 10.1242/dmm.049963. Epub 2023 Jun 7. Dis Model Mech. 2023. PMID: 37283036 Free PMC article.

2

A TRAPPC6B splicing variant associates to restless legs syndrome.

Aridon P, De Fusco M, Winkelmann JW, Zucconi M, Arnao V, Ferini-Strambi L, Casari G. Aridon P, et al. Among authors: de fusco m. Parkinsonism Relat Disord. 2016 Oct;31:135-138. doi: 10.1016/j.parkreldis.2016.08.016. Epub 2016 Aug 18. Parkinsonism Relat Disord. 2016. PMID: 27569842

3

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.

Consolato F, De Fusco M, Schaeffer C, Pieruzzi F, Scolari F, Gallieni M, Lanzani C, Feriozzi S, Rampoldi L. Consolato F, et al. Among authors: de fusco m. Mol Genet Metab Rep. 2022 Oct 31;33:100926. doi: 10.1016/j.ymgmr.2022.100926. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36345359 Free PMC article.

4

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.

5

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R. Lüthy K, et al. Among authors: de fusco m. Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175. Brain. 2019. PMID: 31257402

6

Further evidence of genetic heterogeneity in familial essential tremor.

Aridon P, Ragonese P, De Fusco M, Salemi G, Casari G, Savettieri G. Aridon P, et al. Among authors: de fusco m. Parkinsonism Relat Disord. 2008;14(1):15-8. doi: 10.1016/j.parkreldis.2007.05.002. Epub 2007 Aug 20. Parkinsonism Relat Disord. 2008. PMID: 17703985

7

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E. Riant F, et al. Among authors: de fusco m. Hum Mutat. 2005 Sep;26(3):281. doi: 10.1002/humu.9361. Hum Mutat. 2005. PMID: 16088919

8

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.

Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Marconi R, et al. Among authors: de fusco m. Ann Neurol. 2003 Mar;53(3):376-81. doi: 10.1002/ana.10464. Ann Neurol. 2003. PMID: 12601705

9

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. De Fusco M, et al. Nat Genet. 2003 Feb;33(2):192-6. doi: 10.1038/ng1081. Epub 2003 Jan 21. Nat Genet. 2003. PMID: 12539047

10

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP. Striano P, et al. Among authors: de fusco m. Epilepsia. 2004 Feb;45(2):190-2. doi: 10.1111/j.0013-9580.2004.39903.x. Epilepsia. 2004. PMID: 14738428 Free article.

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