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A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability
2018-01-01 Campostrini, G; Di Francesco, Jc; Castellotti, B; Raffaella Milanesi, R; Gnecchi-Ruscone, T; Bonzanni, M; Bucchi, A; Baruscotti, M; Ferrarese, C; Franceschetti, S; Canafoglia, L; Ragona, F; Freri, E; Gambardella, A; Costa, C; Gellera, C; Granata, T; Barbuti, A; Di, Francesco; Labate, A
A new Italian instrument for the assessment of irritability in patients with epilepsy.
2011-01-01 Piazzini, A; Turner, K; Edefonti, V; Bravi, F; Canevini, Mp; LICE Irritability, Group; Ferraroni, M; Chifari, R; Romeo, A; Viri, M; La Neve, A; Francavilla, T; Lamberti, P; Mecarelli, O; Magaudda, A; Gugliotta, C; Gambardella, A; Labate, A; Ferlazzo, E; Rocchi, R; Pucci, B; Vatti, G; Sicilia, I; Iudice, A; Pelliccia, V.
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chomosome 1
2000-01-01 Gambardella, A; Annesi, G; DE FUSCO, M; Patrignani, A; Aguglia, U; Annesi, F; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Et, Al
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1
2000-01-01 Gambardella, A; Annesi, G; DE FUSCO, M; Patrignani, A; Aguglia, U; Annesi, F; Pasqua, Aa; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Casari, G; Quattrone, A.
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
2015-01-01 Gagliardi, M; Annesi, G; Nicoletti, G; Perrotta, P; Pustorino, G; Iannello, G; Tarantino, P; Gambardella, A; Quattrone, A; Morelli, M
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
2018-01-01 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
A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit
2004-01-01 Annesi, G; Sofia, V; Gambardella, A; Candiano, Ic; Spadafora, P; Annesi, F; Cutuli, N; DE MARCO, Ev; Civitelli, D; Carrideo, S; Tarantino, P; Barone, R; Zappia, M; Quattrone, A.
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
2001-01-01 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
A novel mutation in the notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and MRI spectroscopic analyses
2001-01-01 Oliveri, R. L.; Muglia, M; DE STEFANO, N; Mazzei, R; Labate, A; Conforti, F. L.; Patitucci, A; Gabriele, A. L.; Magariello, A; Zappia, M; Gambardella, A; Federico, A; Quattrone, A
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
2011-01-01 Gabriele, Al; Ruggieri, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Muglia, M; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability | 1-gen-2018 | Campostrini, G; Di Francesco, Jc; Castellotti, B; Raffaella Milanesi, R; Gnecchi-Ruscone, T; Bonzanni, M; Bucchi, A; Baruscotti, M; Ferrarese, C; Franceschetti, S; Canafoglia, L; Ragona, F; Freri, E; Gambardella, A; Costa, C; Gellera, C; Granata, T; Barbuti, A; Di, Francesco; Labate, A | |
| A new Italian instrument for the assessment of irritability in patients with epilepsy. | 1-gen-2011 | Piazzini, A; Turner, K; Edefonti, V; Bravi, F; Canevini, Mp; LICE Irritability, Group; Ferraroni, M; Chifari, R; Romeo, A; Viri, M; La Neve, A; Francavilla, T; Lamberti, P; Mecarelli, O; Magaudda, A; Gugliotta, C; Gambardella, A; Labate, A; Ferlazzo, E; Rocchi, R; Pucci, B; Vatti, G; Sicilia, I; Iudice, A; Pelliccia, V. | |
| A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chomosome 1 | 1-gen-2000 | Gambardella, A; Annesi, G; DE FUSCO, M; Patrignani, A; Aguglia, U; Annesi, F; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Et, Al | |
| A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 | 1-gen-2000 | Gambardella, A; Annesi, G; DE FUSCO, M; Patrignani, A; Aguglia, U; Annesi, F; Pasqua, Aa; Spadafora, P; Oliveri, Rl; Valentino, P; Zappia, M; Ballabio, A; Casari, G; Quattrone, A. | |
| A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. | 1-gen-2015 | Gagliardi, M; Annesi, G; Nicoletti, G; Perrotta, P; Pustorino, G; Iannello, G; Tarantino, P; Gambardella, A; Quattrone, A; Morelli, M | |
| A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability | 1-gen-2018 | 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 | |
| A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit | 1-gen-2004 | Annesi, G; Sofia, V; Gambardella, A; Candiano, Ic; Spadafora, P; Annesi, F; Cutuli, N; DE MARCO, Ev; Civitelli, D; Carrideo, S; Tarantino, P; Barone, R; Zappia, M; Quattrone, A. | |
| 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 | 1-gen-2001 | 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 | |
| A novel mutation in the notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and MRI spectroscopic analyses | 1-gen-2001 | Oliveri, R. L.; Muglia, M; DE STEFANO, N; Mazzei, R; Labate, A; Conforti, F. L.; Patitucci, A; Gabriele, A. L.; Magariello, A; Zappia, M; Gambardella, A; Federico, A; Quattrone, A | |
| A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. | 1-gen-2011 | Gabriele, Al; Ruggieri, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Muglia, M; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A. |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 473
- 1 Contributo su Rivista::1.1 Arti... 473
Data di pubblicazione
- In corso di stampa 1
- 2020 - 2024 99
- 2010 - 2019 203
- 2000 - 2009 104
- 1990 - 1999 65
- 1989 - 1989 1
Rivista
- EPILEPSIA 79
- NEUROLOGY 51
- EPILEPSY & BEHAVIOR 17
- EPILEPSY RESEARCH 17
- NEUROLOGICAL SCIENCES 17
- SEIZURE 15
- BRAIN 14
- ANNALS OF NEUROLOGY 11
- MOVEMENT DISORDERS 10
- EUROPEAN JOURNAL OF NEUROLOGY 9
Keyword
- Humans 14
- Epilepsy 13
- epilepsy 13
- temporal lobe epilepsy 11
- Temporal lobe epilepsy 10
- Adult 9
- Female 9
- MRI 9
- Male 8
- Middle Aged 6
Lingua
- eng 446
- ita 1
- scc 1
Accesso al fulltext
- no fulltext 473