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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium. Berkovic SF, et al. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Marchese M, Bernardi S, Ogi A, Licitra R, Silvi G, Mero S, Galatolo D, Gammaldi N, Doccini S, Ratto GM, Rapposelli S, Neuhauss SCF, Zang J, Rocchiccioli S, Michelucci E, Ceccherini E, Santorelli FM. Marchese M, et al. Among authors: santorelli fm. Neurobiol Dis. 2024 May 17;197:106536. doi: 10.1016/j.nbd.2024.106536. Online ahead of print. Neurobiol Dis. 2024. PMID: 38763444 Free article.
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Lopriore P, Vista M, Tessa A, Giuntini M, Caldarazzo Ienco E, Mancuso M, Siciliano G, Santorelli FM, Orsucci D. Lopriore P, et al. Among authors: santorelli fm. J Clin Med. 2024 Apr 19;13(8):2391. doi: 10.3390/jcm13082391. J Clin Med. 2024. PMID: 38673663 Free PMC article. Review.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Traschütz A, Fleszar Z, Hengel H, Klockgether T, Erdlenbruch F, Falkenburger BH, Klopstock T, Öztop-Çakmak Ö, Pedroso JL, Santorelli FM, Schöls L; RFC1 Study Group, PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: santorelli fm. Mov Disord. 2024 Mar 20. doi: 10.1002/mds.29788. Online ahead of print. Mov Disord. 2024. PMID: 38509638
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: santorelli fm. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
585 results