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720 results

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Page 1
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D. Bonzanni M, et al. Among authors: gambardella a. Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012. Epub 2018 Jun 21. Neurobiol Dis. 2018. PMID: 29936235 Free article.
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
Oliveri RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, Patitucci A, Gabriele AL, Tagarelli G, Magariello A, Zappia M, Gambardella A, Federico A, Quattrone A. Oliveri RL, et al. Among authors: gambardella a. Arch Neurol. 2001 Sep;58(9):1418-22. doi: 10.1001/archneur.58.9.1418. Arch Neurol. 2001. PMID: 11559313
GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, Cittadella R, Bonavita S, Andreoli V, LePiane E, Sasanelli F, Di Costanzo A, Zappia M, Tedeschi G, Aguglia U, Quattrone A. Gambardella A, et al. Neurology. 2003 Feb 25;60(4):560-3. doi: 10.1212/01.wnl.0000046520.79877.d8. Neurology. 2003. PMID: 12601092
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy.
Gambardella A, Manna I, Labate A, Chifari R, Serra P, La Russa A, LePiane E, Cittadella R, Andreoli V, Sasanelli F, Zappia M, Aguglia U, Quattrone A. Gambardella A, et al. Epilepsia. 2003 Sep;44(9):1255-6. doi: 10.1046/j.1528-1157.2003.18003.x. Epilepsia. 2003. PMID: 12919401 Free article. No abstract available.
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Cirò Candiano IC, Romeo N, De Marco EV, Ventura P, LePiane E, Zappia M, Aguglia U, Pavone L, Quattrone A. Annesi G, et al. Among authors: gambardella a. Epilepsia. 2003 Sep;44(9):1257-8. doi: 10.1046/j.1528-1157.2003.22503.x. Epilepsia. 2003. PMID: 12919402 Free article. No abstract available.
Temporal lobe epilepsy as a unique manifestation of multiple sclerosis.
Gambardella A, Valentino P, Labate A, Sibilia G, Ruscica F, Colosimo E, Nisticò R, Messina D, Zappia M, Quattrone A. Gambardella A, et al. Can J Neurol Sci. 2003 Aug;30(3):228-32. doi: 10.1017/s031716710000264x. Can J Neurol Sci. 2003. PMID: 12945947
Startle epilepsy complicating aspartylglucosaminuria.
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A. Labate A, et al. Among authors: gambardella a. Brain Dev. 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. Brain Dev. 2004. PMID: 15036433
Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Mantegazza M, et al. Among authors: gambardella a. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. doi: 10.1073/pnas.0506818102. Epub 2005 Dec 2. Proc Natl Acad Sci U S A. 2005. PMID: 16326807 Free PMC article.
720 results