Santorelli FM - Search Results

1

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.

Doccini S, Marchese M, Morani F, Gammaldi N, Mero S, Pezzini F, Soliymani R, Santi M, Signore G, Ogi A, Rocchiccioli S, Kanninen KM, Simonati A, Lalowski MM, Santorelli FM. Doccini S, et al. Among authors: santorelli fm. Cells. 2022 Jun 4;11(11):1840. doi: 10.3390/cells11111840. Cells. 2022. PMID: 35681535 Free PMC article.

2

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10862088

3

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

Simonati A, Santorum E, Tessa A, Polo A, Simonetti F, Bernardina BD, Santorelli FM, Rizzuto N. Simonati A, et al. Among authors: santorelli fm. Neuropediatrics. 2000 Aug;31(4):199-201. doi: 10.1055/s-2000-7453. Neuropediatrics. 2000. PMID: 11071145

4

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: santorelli fm. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

5

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM. Bonsignore M, et al. Among authors: santorelli fm. Eur J Paediatr Neurol. 2006 May;10(3):154-6. doi: 10.1016/j.ejpn.2006.04.002. Epub 2006 Jun 8. Eur J Paediatr Neurol. 2006. PMID: 16759889

6

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM. Cannelli N, et al. Among authors: santorelli fm. Neuropediatrics. 2007 Feb;38(1):46-9. doi: 10.1055/s-2007-981449. Neuropediatrics. 2007. PMID: 17607606

7

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Cannelli N, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7. Biochem Biophys Res Commun. 2009. PMID: 19135028

8

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. Aiello C, et al. Among authors: santorelli fm. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532

9

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: santorelli fm. Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018. Pediatr Neurol. 2009. PMID: 19302939

10

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Pezzini F, Gismondi F, Tessa A, Tonin P, Carrozzo R, Mole SE, Santorelli FM, Simonati A. Pezzini F, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2011 Dec 9;416(1-2):159-64. doi: 10.1016/j.bbrc.2011.11.016. Epub 2011 Nov 11. Biochem Biophys Res Commun. 2011. PMID: 22100646

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