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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: mole se. 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
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: mole se. 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
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: mole se. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: mole se. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. Mole SE, et al. Orphanet J Rare Dis. 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. Orphanet J Rare Dis. 2021. PMID: 33882967 Free PMC article.
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, Fitzpatrick L, Thompton CD, McKay TR, Storch S, Medina DL, Mole SE, Fedichev PO, Almeida A, Bolaños JP. Lopez-Fabuel I, et al. Among authors: mole se. Nat Commun. 2022 Jan 27;13(1):536. doi: 10.1038/s41467-022-28191-1. Nat Commun. 2022. PMID: 35087090 Free PMC article.
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ. Faller KM, et al. Among authors: mole se. J Neurosci Res. 2016 Apr;94(4):339-47. doi: 10.1002/jnr.23710. Epub 2016 Jan 13. J Neurosci Res. 2016. PMID: 26762174 Free article.
Neuronal ceroid lipofuscinoses.
Nita DA, Mole SE, Minassian BA. Nita DA, et al. Among authors: mole se. Epileptic Disord. 2016 Sep 1;18(S2):73-88. doi: 10.1684/epd.2016.0844. Epileptic Disord. 2016. PMID: 27629553 Review.
147 results