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Page 1
Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques.
Front Pediatr. 2022 Sep 23;10:901338. doi: 10.3389/fped.2022.901338. eCollection 2022.
Front Pediatr. 2022.
PMID: 36210928
Free PMC article.
Review.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F.
Fruscione F, et al. Among authors: sartorelli j.
Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051.
Brain. 2018.
PMID: 29554219
Free PMC article.
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Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F.
Sartorelli J, et al.
Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508.
Genes (Basel). 2024.
PMID: 38674442
Free PMC article.
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CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
Trivisano M, Striano P, Sartorelli J, Giordano L, Traverso M, Accorsi P, Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N.
Trivisano M, et al. Among authors: sartorelli j.
Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7.
Epilepsy Behav. 2015.
PMID: 26262932
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TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A.
Aprile D, et al. Among authors: sartorelli j.
Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11.
Cell Death Differ. 2019.
PMID: 30858606
Free PMC article.
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