オープン アクセスを義務付けられた論文 - Renzo Guerrini詳細
一般には非公開: 37 件
確認
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
A Suls, SA Mullen, YG Weber, K Verhaert, B Ceulemans, R Guerrini, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
委任: Research Foundation (Flanders)
確認
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
委任: Research Foundation (Flanders), National Institute of Health and Medical …
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Protocadherin 19 mutations in girls with infantile-onset epilepsy
C Marini, D Mei, L Parmeggiani, V Norci, E Calado, A Ferrari, A Moreira, ...
Neurology 75 (7), 646-653, 2010
委任: Fondazione Telethon, Italy
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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
P Striano, YG Weber, MR Toliat, J Schubert, C Leu, R Chaimana, ...
Neurology 78 (8), 557-562, 2012
委任: US National Institutes of Health, German Research Foundation, Fondazione …
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Efficacy and safety of ketamine in refractory status epilepticus in children
A Rosati, M L’Erario, L Ilvento, C Cecchi, T Pisano, L Mirabile, R Guerrini
Neurology 79 (24), 2355-2358, 2012
委任: Fondazione Telethon, Italy
確認
The impact of next-generation sequencing on the diagnosis and treatment of epilepsy in paediatric patients
D Mei, E Parrini, C Marini, R Guerrini
Molecular diagnosis & therapy 21 (4), 357-373, 2017
委任: Government of Italy
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Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo
E Landucci, L Filippi, E Gerace, S Catarzi, R Guerrini, ...
Neuroscience Letters 668, 103-107, 2018
委任: Government of Italy
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Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort
S Funghini, J Thusberg, M Spada, S Gasperini, R Parini, L Ventura, ...
Gene 493 (2), 228-234, 2012
委任: US National Institutes of Health
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
委任: National Health and Medical Research Council, Australia
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Cognitive outcome after epilepsy surgery in children: a controlled longitudinal study
V Sibilia, C Barba, T Metitieri, G Michelini, F Giordano, L Genitori, ...
Epilepsy & Behavior 73, 23-30, 2017
委任: Government of Italy
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Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations
S Barresi, ML Dentici, F Manzoni, E Bellacchio, E Agolini, S Pizzi, A Ciolfi, ...
Pediatric neurology 104, 40-45, 2020
委任: Government of Italy
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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
C Marini, K Hardies, T Pisano, P May, S Weckhuysen, E Cellini, A Suls, ...
American Journal of Medical Genetics Part A 173 (4), 1119-1123, 2017
委任: Research Foundation (Flanders)
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Aminoacylase I deficiency due to ACY1 mRNA exon skipping
L Ferri, S Funghini, A Fioravanti, EG Biondi, G la Marca, R Guerrini, ...
Clinical genetics 86 (4), 367-372, 2014
委任: Government of Italy
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Effects of formalin fixation on tissue optical properties of in-vitro brain samples
S Anand, R Cicchi, F Martelli, F Giordano, AM Buccoliero, R Guerrini, ...
Optical Interactions with Tissue and Cells XXVI 9321, 197-201, 2015
委任: Government of Italy
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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
SD Vecchia, A Tessa, C Dosi, J Baldacci, R Pasquariello, A Antenora, ...
Journal of neurology, 1-14, 2022
委任: Government of Italy
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Do mutations in SCN1B cause Dravet syndrome?
YO Kim, L Dibbens, C Marini, A Suls, N Chemaly, D Mei, JM McMahon, ...
Epilepsy research 103 (1), 97-100, 2013
委任: National Health and Medical Research Council, Australia, Research Foundation …
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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
V Conti, C Marini, S Gana, J Sudi, WB Dobyns, R Guerrini
American journal of medical genetics Part A 155 (4), 892-897, 2011
委任: US National Institutes of Health
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Developmental and epileptic encephalopathies
IE Scheffer, S Zuberi, HC Mefford, R Guerrini, A McTague
Nature Reviews Disease Primers 10 (1), 61, 2024
委任: National Health and Medical Research Council, Australia, National Institute …
確認
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
D Battaglia, D Chieffo, S Lucibello, C Marini, V Sibilia, D Mei, F Darra, ...
Brain and Development 43 (3), 419-430, 2021
委任: European Commission
確認
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
L Ferri, C Cavicchi, A Fiumara, R Parini, R Guerrini, A Morrone
Clinica Chimica Acta 452, 82-86, 2016
委任: Government of Italy
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