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A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P, Ragona F, Mosca I, Vannicola C, Canafoglia L, Solazzi R, Rivolta I, Freri E, Granata T, Messina G, Castellotti B, Gellera C, Soldovieri MV, DiFrancesco JC, Taglialatela M. Ambrosino P, et al. Among authors: difrancesco jc. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation.
Auriel E, Charidimou A, Gurol ME, Ni J, Van Etten ES, Martinez-Ramirez S, Boulouis G, Piazza F, DiFrancesco JC, Frosch MP, Pontes-Neto OV, Shoamanesh A, Reijmer Y, Vashkevich A, Ayres AM, Schwab KM, Viswanathan A, Greenberg SM. Auriel E, et al. Among authors: difrancesco jc. JAMA Neurol. 2016 Feb;73(2):197-202. doi: 10.1001/jamaneurol.2015.4078. JAMA Neurol. 2016. PMID: 26720093
HCN-related channelopathies.
Baruscotti M, Bottelli G, Milanesi R, DiFrancesco JC, DiFrancesco D. Baruscotti M, et al. Among authors: difrancesco d, difrancesco jc. Pflugers Arch. 2010 Jul;460(2):405-15. doi: 10.1007/s00424-010-0810-8. Epub 2010 Mar 8. Pflugers Arch. 2010. PMID: 20213494 Review.
Autoimmune encephalopathy in Graves' disease: remission after total thyroidectomy.
Gelosa G, DiFrancesco JC, Tremolizzo L, Lanzani F, Rota S, Colombo M, Perego P, Massimini D, Marzorati L, Curtò NA, Ferrarese C. Gelosa G, et al. Among authors: difrancesco jc. J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):698-9. doi: 10.1136/jnnp.2008.152413. J Neurol Neurosurg Psychiatry. 2009. PMID: 19448102 No abstract available.
Cerebellar hematoma in a carrier of the A3243G MELAS mutation.
Saracchi E, Tremolizzo L, DiFrancesco JC, Brighina L, Costantino G, Frigeni B, Brioschi M, Piatti ML, Fumagalli L, Marzorati L, Curtò NA, Ferrarese C. Saracchi E, et al. Among authors: difrancesco jc. Neurol Sci. 2011 Apr;32(2):365-6. doi: 10.1007/s10072-011-0493-8. Epub 2011 Feb 16. Neurol Sci. 2011. PMID: 21327397 No abstract available.
Cerebrospinal fluid levels of BAFF and APRIL in untreated multiple sclerosis.
Piazza F, DiFrancesco JC, Fusco ML, Corti D, Pirovano L, Frigeni B, Mattavelli L, Andreoni S, Frigo M, Ferrarese C, Tredici G, Cavaletti G. Piazza F, et al. Among authors: difrancesco jc. J Neuroimmunol. 2010 Mar 30;220(1-2):104-7. doi: 10.1016/j.jneuroim.2010.01.011. Epub 2010 Feb 11. J Neuroimmunol. 2010. PMID: 20149932
84 results