Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

127 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Among authors: simonati a. 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.
Management of CLN1 Disease: International Clinical Consensus.
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Augustine EF, et al. Among authors: simonati a. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. Pediatr Neurol. 2021. PMID: 34000449 Free article.
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Schulz A, et al. Among authors: simonati a. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602993 Free PMC article.
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A. Nickel M, et al. Among authors: simonati a. Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2. Lancet Child Adolesc Health. 2018. PMID: 30119717 Free PMC article.
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: simonati a. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
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: simonati a. 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
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: simonati a. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532
127 results