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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Published in:
Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
By:
- Henden, Lyndal;
- Freytag, Saskia;
- Afawi, Zaid;
- Baldassari, Sara;
- Berkovic, Samuel;
- Bisulli, Francesca;
- Canafoglia, Laura;
- Casari, Giorgio;
- Crompton, Douglas;
- Depienne, Christel;
- Gecz, Jozef;
- Guerrini, Renzo;
- Helbig, Ingo;
- Hirsch, Edouard;
- Keren, Boris;
- Klein, Karl;
- Labauge, Pierre;
- LeGuern, Eric;
- Licchetta, Laura;
- Mei, Davide
Publication type:
Article
Reciprocal translocations: a trap for cytogenetists?
Published in:
Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x
By:
- Ciccone, Roberto;
- Giorda, Roberto;
- Gregato, Giuliana;
- Guerrini, Renzo;
- Giglio, Sabrina;
- Carrozzo, Romeo;
- Bonaglia, Maria Clara;
- Priolo, Emanuela;
- Laganà, Carmelo;
- Tenconi, Romano;
- Rocchi, Mariano;
- Pramparo, Tiziano;
- Zuffardi, Orsetta;
- Rossi, Elena
Publication type:
Article
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 527, doi. 10.3390/jpm12040527
By:
- Costa, Anna-Maria;
- Lo Barco, Tommaso;
- Spezia, Elisabetta;
- Conti, Valerio;
- Roli, Laura;
- Marini, Lorenza;
- Minghetti, Sara;
- Caramaschi, Elisa;
- Pietrangelo, Laura;
- Pecoraro, Luca;
- D'Achille, Fabio;
- Accorsi, Paola;
- Trenti, Tommaso;
- Melani, Federico;
- Marini, Carla;
- Guerrini, Renzo;
- Darra, Francesca;
- Bergonzini, Patrizia;
- Biagini, Giuseppe
Publication type:
Article
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.
Published in:
2010
By:
- Gasperini, Serena;
- Stagi, Stefano;
- Gasperini, Ugo;
- Guerrini, Renzo;
- la Marca, Giancarlo;
- Donati, Maria
Publication type:
Letter
SARS-CoV-2 infection in a patient with propionic acidemia.
Published in:
2020
By:
- Caciotti, Anna;
- Procopio, Elena;
- Pochiero, Francesca;
- Falliano, Silvia;
- Indolfi, Giuseppe;
- Donati, Maria Alice;
- Ferri, Lorenzo;
- Guerrini, Renzo;
- Morrone, Amelia
Publication type:
case study
Left inferior frontal cortex can compensate the inhibitory functions of right inferior frontal cortex and pre‐supplementary motor area.
Published in:
Journal of Neuropsychology, 2019, v. 13, n. 3, p. 503, doi. 10.1111/jnp.12170
By:
- Gavazzi, Gioele;
- Lenge, Matteo;
- Bartolini, Emanuele;
- Bianchi, Andrea;
- Agovi, Herdis;
- Mugnai, Francesca;
- Guerrini, Renzo;
- Giordano, Flavio;
- Viggiano, Maria Pia;
- Mascalchi, Mario
Publication type:
Article
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Published in:
Annals of Neurology, 2009, v. 66, n. 3, p. 415, doi. 10.1002/ana.21724
By:
- Suls, Arvid;
- Mullen, Saul A.;
- Weber, Yvonne G.;
- Verhaert, Kristien;
- Ceulemans, Berten;
- Guerrini, Renzo;
- Wuttke, Thomas V.;
- Salvo-Vargas, Alberto;
- Deprez, Liesbet;
- Claes, Lieve R. F.;
- Jordanova, Albena;
- Berkovic, Samuel F.;
- Lerche, Holger;
- De Jonghe, Peter;
- Scheffer, Ingrid E.
Publication type:
Article
Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromesURLs and accession numbers for data are listed in the Appendix on page 686.
Published in:
Annals of Neurology, 2005, v. 58, n. 5, p. 680
By:
- Xianhua Piao;
- Bernard S. Chang;
- Adria Bodell;
- Katelyn Woods;
- Bruria BenZeev;
- Meral Topcu;
- Renzo Guerrini;
- Hadassa Goldberg‐Stern;
- Laszlo Sztriha;
- William B. Dobyns;
- A. James Barkovich;
- Christopher A. Walsh
Publication type:
Article
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy.
Published in:
Annals of Neurology, 2004, v. 55, n. 4, p. 550
By:
- Samuel F. Berkovic;
- Sarah E. Heron;
- Lucio Giordano;
- Carla Marini;
- Renzo Guerrini;
- Robert E. Kaplan;
- Antonio Gambardella;
- Ortrud K. Steinlein;
- Bronwyn E. Grinton;
- Joanne T. Dean;
- Laura Bordo;
- Bree L. Hodgson;
- Toshiyuki Yamamoto;
- John C. Mulley;
- Federico Zara;
- Ingrid E. Scheffer
Publication type:
Article
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations.
Published in:
Annals of Neurology, 2003, v. 54, n. 1, p. 30
By:
- Renzo Guerrini;
- Francesca Moro;
- Eva Andermann;
- Elaine Hughes;
- Daniela D'Agostino;
- Romeo Carrozzo;
- Andrea Bernasconi;
- Frances Flinter;
- Lucio Parmeggiani;
- Anna Volzone;
- Elena Parrini;
- Davide Mei;
- Jozef M. Jarosz;
- Robin G. Morris;
- Polly Pratt;
- Gaetano Tortorella;
- François Dubeau;
- Frederick Andermann;
- William B. Dobyns;
- Soma Das
Publication type:
Article
Genetic and neuroradiological heterogeneity of double cortex syndrome.
Published in:
2000
By:
- Gleeson, Joseph G.;
- Luo, Robert F.;
- Grant, P. Ellen;
- Guerrini, Renzo;
- Huttenlocher, Peter R.;
- Berg, Michel J.;
- Ricci, Stefano;
- Cusmai, Raffaella;
- Wheless, James W.;
- Berkovic, Samuel;
- Scheffer, Ingrid;
- Dobyns, William B.;
- Walsh, Christopher A.;
- Gleeson, J G;
- Luo, R F;
- Grant, P E;
- Guerrini, R;
- Huttenlocher, P R;
- Berg, M J;
- Ricci, S
Publication type:
journal article
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Published in:
Annals of Neurology, 2000, v. 47, n. 1, p. 117, doi. 10.1002/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A
By:
- Guerrini, Renzo;
- Shanahan, Jennifer L.;
- Carrozzo, Romeo;
- Bonanni, Paolo;
- Higgs, Douglas R.;
- Gibbons, Richard J.
Publication type:
Article
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
Published in:
1999
By:
- Guerrini, Renzo;
- Bonanni, Paolo;
- Nardocci, Nardo;
- Parmeggiani, Lucio;
- Piccirilli, Massimo;
- De Fusco, Maurizio;
- Aridon, Paolo;
- Ballabio, Andrea;
- Carrozzo, Romeo;
- Casari, Giorgio;
- Guerrini, R;
- Bonanni, P;
- Nardocci, N;
- Parmeggiani, L;
- Piccirilli, M;
- De Fusco, M;
- Aridon, P;
- Ballabio, A;
- Carrozzo, R;
- Casari, G
Publication type:
journal article
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Published in:
1999
By:
- Fogli, Antonella;
- Guerrini, Renzo;
- Moro, Francesca;
- Fernandez-Alvarez, Emilio;
- Odile Livet, Marie;
- Renieri, Alessandra;
- Cioni, Maddalena;
- Pilz, Daniela T.;
- Veggiotti, Pierangelo;
- Rossi, Elena;
- Ballabio, Andrea;
- Carrozzo, Romeo;
- Fogli, A;
- Guerrini, R;
- Moro, F;
- Fernandez-Alvarez, E;
- Livet, M O;
- Renieri, A;
- Cioni, M;
- Pilz, D T
Publication type:
journal article
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Published in:
1999
By:
- Gleeson, Joseph G.;
- Minnerath, Sharon R.;
- Fox, Jeremy W.;
- Allen, Kristina M.;
- Luo, Robert F.;
- Hong, Susan E.;
- Berg, Michael J.;
- Kuzniecky, Ruben;
- Reitnauer, Pamela J.;
- Borgatti, Renato;
- Puche Mira, Alberto;
- Guerrini, Renzo;
- Holmes, Gregory L.;
- Rooney, Cynthia M.;
- Berkovic, Samuel;
- Scheffer, Ingrid;
- Cooper, Edward C.;
- Ricci, Stefano;
- Cusmai, Raffaella;
- Crawford, Thomas O.
Publication type:
journal article
Cortical reflex myoclonus in rett syndrome.
Published in:
Annals of Neurology, 1998, v. 43, n. 4, p. 472, doi. 10.1002/ana.410430410
By:
- Guerrini, Renzo;
- Bonanni, Paolo;
- Parmeggiani, Locio;
- Santucci, Margherita;
- Parmeggiani, Antonia;
- Sartucci, Ferdinando
Publication type:
Article
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
Published in:
1998
By:
- Minassian, Berge A.;
- Delorey, Timothy M.;
- Olsen, Richard W.;
- Philippart, Michel;
- Bronstein, Yuri;
- Zhang, Quanwei;
- Guerrini, Renzo;
- van Ness, Paul;
- Livet, Marie O.;
- Delgado-Escueta, Antonio V.;
- Minassian, B A;
- DeLorey, T M;
- Olsen, R W;
- Philippart, M;
- Bronstein, Y;
- Zhang, Q;
- Guerrini, R;
- Van Ness, P;
- Livet, M O;
- Delgado-Escueta, A V
Publication type:
journal article
Cortical myoclonus in angelman syndrome.
Published in:
Annals of Neurology, 1996, v. 40, n. 1, p. 39, doi. 10.1002/ana.410400109
By:
- Guerrini, Renzo;
- Bonanni, Paolo;
- de Lorey, Timothy M.;
- Serratosa, José M.;
- Moncla, Anne;
- Malzac, Perrine;
- Dravet, Charlotte;
- Igvet, Marie Odile;
- Bureau, Michelle;
- Genton, Pierre;
- Suisse, Georges;
- Thomas, Pierre;
- Sartucci, Ferdinando;
- Simi, Paolo
Publication type:
Article
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0694-6
By:
- Caciotti, Anna;
- Tonin, Rodolfo;
- Mort, Matthew;
- Cooper, David N.;
- Gasperini, Serena;
- Rigoldi, Miriam;
- Parini, Rossella;
- Deodato, Federica;
- Taurisano, Roberta;
- Sibilio, Michelina;
- Parenti, Giancarlo;
- Guerrini, Renzo;
- Morrone, Amelia
Publication type:
Article
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Published in:
Movement Disorders, 2023, v. 38, n. 12, p. 2313, doi. 10.1002/mds.29585
By:
- Galosi, Serena;
- Novelli, Maria;
- Di Rocco, Martina;
- Flex, Elisabetta;
- Messina, Elena;
- Pollini, Luca;
- Parrini, Elena;
- Pisani, Francesco;
- Guerrini, Renzo;
- Leuzzi, Vincenzo;
- Martinelli, Simone
Publication type:
Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
Published in:
Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
By:
- Pérez‐Dueñas, Belén;
- Gorman, Kathleen;
- Marcé‐Grau, Anna;
- Ortigoza‐Escobar, Juan D.;
- Macaya, Alfons;
- Danti, Federica R.;
- Barwick, Katy;
- Papandreou, Apostolos;
- Ng, Joanne;
- Meyer, Esther;
- Mohammad, Shekeeb S.;
- Smith, Martin;
- Muntoni, Francesco;
- Munot, Pinki;
- Uusimaa, Johanna;
- Vieira, Päivi;
- Sheridan, Eammon;
- Guerrini, Renzo;
- Cobben, Jan;
- Yilmaz, Sanem
Publication type:
Article
Trends, outcomes, and complications of surgery for lesional epilepsy in infants and toddlers: A multicenter study.
Published in:
Epilepsia Open, 2024, v. 9, n. 4, p. 1382, doi. 10.1002/epi4.12965
By:
- Barba, Carmen;
- Pelliccia, Veronica;
- Grisotto, Laura;
- De Palma, Luca;
- Nobile, Giulia;
- Gozzo, Francesca;
- Revay, Martina;
- Carfi‐Pavia, Giusy;
- Cossu, Massimo;
- Giordano, Flavio;
- Consales, Alessandro;
- De Benedictis, Alessandro;
- Cavallini, Elena;
- Mion, Cristina;
- Accolla, Claudia;
- Specchio, Nicola;
- Nobili, Lino;
- Guerrini, Renzo;
- Tassi, Laura
Publication type:
Article
Comparative efficacy and safety of stiripentol, cannabidiol and fenfluramine as first‐line add‐on therapies for seizures in Dravet syndrome: A network meta‐analysis.
Published in:
Epilepsia Open, 2024, v. 9, n. 2, p. 689, doi. 10.1002/epi4.12923
By:
- Guerrini, Renzo;
- Chiron, Catherine;
- Vandame, Delphine;
- Linley, Warren;
- Toward, Toby
Publication type:
Article
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Published in:
Epilepsia Open, 2024, v. 9, n. 1, p. 417, doi. 10.1002/epi4.12843
By:
- Panza, Norman;
- Bianchini, Claudia;
- Cetica, Valentina;
- Balestrini, Simona;
- Barba, Carmen;
- Ferrari, Anna Rita;
- Mei, Davide;
- Parmeggiani, Lucio;
- Parrini, Elena;
- Guerrini, Renzo
Publication type:
Article
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program.
Published in:
Epilepsia Open, 2022, v. 7, n. 4, p. 578, doi. 10.1002/epi4.12624
By:
- Guerrini, Renzo;
- Specchio, Nicola;
- Aledo‐Serrano, Ángel;
- Pringsheim, Milka;
- Darra, Francesca;
- Mayer, Thomas;
- Gil‐Nagel, Antonio;
- Polster, Tilman;
- Zuberi, Sameer M.;
- Lothe, Amélie;
- Gammaitoni, Arnold;
- Strzelczyk, Adam
Publication type:
Article
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
Published in:
Epilepsia Open, 2021, v. 6, n. 1, p. 160, doi. 10.1002/epi4.12459
By:
- Baumgartner, Tobias;
- Carreño, Mar;
- Rocamora, Rodrigo;
- Bisulli, Francesca;
- Boni, Antonella;
- Brázdil, Milan;
- Horak, Ondrej;
- Craiu, Dana;
- Pereira, Cristina;
- Guerrini, Renzo;
- San Antonio‐Arce, Victoria;
- Schulze‐Bonhage, Andreas;
- Zuberi, Sameer M.;
- Hallböök, Tove;
- Kalviainen, Reetta;
- Lagae, Lieven;
- Nguyen, Sylvie;
- Quintas, Sofia;
- Franco, Ana;
- Cross, J. Helen
Publication type:
Article
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
Published in:
Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.869842
By:
- Gorini, Francesca;
- Santoro, Michele;
- Pierini, Anna;
- Mezzasalma, Lorena;
- Baldacci, Silvia;
- Bargagli, Elena;
- Boncristiano, Alessandra;
- Brunetto, Maurizia Rossana;
- Cameli, Paolo;
- Cappelli, Francesco;
- Castaman, Giancarlo;
- Coco, Barbara;
- Donati, Maria Alice;
- Guerrini, Renzo;
- Linari, Silvia;
- Murro, Vittoria;
- Olivotto, Iacopo;
- Parronchi, Paola;
- Pochiero, Francesca;
- Rossi, Oliviero
Publication type:
Article
Consensus statements on the information to deliver after a febrile seizure.
Published in:
European Journal of Pediatrics, 2021, v. 180, n. 9, p. 2993, doi. 10.1007/s00431-021-04067-2
By:
- Loussouarn, Anna;
- Devlin, Anita;
- Bast, Thomas;
- Benoist, Grégoire;
- Corrard, François;
- Cross, Helen;
- Ferretti, Alessandro;
- Viguer, Fernando Garcia-Sala;
- Guerrini, Renzo;
- Klepper, Joerg;
- Meissner, Thomas;
- Milh, Mathieu;
- Poltorak, Violeta;
- Raucci, Umberto;
- San Antonio-Arce, Victoria;
- Sie, Adrian;
- Smeyers, Patricia;
- Specchio, Nicola;
- Sutcliffe, Alastair;
- Trauffler, Adeline
Publication type:
Article
Safety and tolerability of antiepileptic drug treatment in children with epilepsy.
Published in:
2012
By:
- Guerrini R;
- Zaccara G;
- la Marca G;
- Rosati A;
- Guerrini, Renzo;
- Zaccara, Gaetano;
- la Marca, Giancarlo;
- Rosati, Anna
Publication type:
journal article
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
Published in:
Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 4, p. 627, doi. 10.1515/cclm-2015-0436
By:
- la Marca, Giancarlo;
- Giocaliere, Elisa;
- Malvagia, Sabrina;
- Villanelli, Fabio;
- Funghini, Silvia;
- Ombrone, Daniela;
- Bona, Maria Della;
- Forni, Giulia;
- Canessa, Clementina;
- Ricci, Silvia;
- Romano, Francesca;
- Guerrini, Renzo;
- Resti, Massimo;
- Azzari, Chiara
Publication type:
Article
Central Precocious Puberty in 48,XXYY Klinefelter Syndrome Variant.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 3, p. 459, doi. 10.1515/jpem.1999.12.3.459
By:
- Bertelloni, Silvano;
- Battini, Roberta;
- Baroncelli, Giampiero I.;
- Guerrini, Renzo;
- Viacava, Paolo;
- Spinelli, Claudio;
- Simi, Paolo
Publication type:
Article
Periventricular nodular heterotopia with overlying polymicrogyria.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2811, doi. 10.1093/brain/awh658
By:
- Gretchen Wieck;
- Richard J. Leventer;
- Waney M. Squier;
- An Jansen;
- Eva Andermann;
- Francois Dubeau;
- Anna Ramazzotti;
- Renzo Guerrini;
- William B. Dobyns
Publication type:
Article
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 11, p. 2507, doi. 10.1093/brain/awf248
By:
- D’Agostino, Maria Daniela;
- Bernasconi, Andrea;
- Das, Soma;
- Bastos, Alexandre;
- Valerio, Rosa M.;
- Palmini, André;
- Costa da Costa, Jaderson;
- Scheffer, Ingrid E.;
- Berkovic, Samuel;
- Guerrini, Renzo;
- Dravet, Charlotte;
- Ono, Jiro;
- Gigli, GianLuigi;
- Federico, Antonio;
- Booth, Fran;
- Bernardi, Bruno;
- Volpi, Lilia;
- Tassinari, Carlo Alberto;
- Guggenheim, Mary Anne;
- Ledbetter, David H.
Publication type:
Article
Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla.
Published in:
Neuroradiology, 2014, v. 56, n. 7, p. 517, doi. 10.1007/s00234-014-1365-8
By:
- Costagli, Mauro;
- Kelley, Douglas;
- Symms, Mark;
- Biagi, Laura;
- Stara, Riccardo;
- Maggioni, Eleonora;
- Tiberi, Gianluigi;
- Barba, Carmen;
- Guerrini, Renzo;
- Cosottini, Mirco;
- Tosetti, Michela
Publication type:
Article
Practitioner Review: Use of antiepileptic drugs in children.
Published in:
Journal of Child Psychology, 2006, v. 47, n. 2, p. 115, doi. 10.1111/j.1469-7610.2005.01458.x
By:
- Guerrini, Renzo;
- Parmeggiani, Lucio
Publication type:
Article
Unilobar surgery for symptomatic epileptic spasms.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 36, doi. 10.1002/acn3.373
By:
- Barba, Carmen;
- Mai, Roberto;
- Grisotto, Laura;
- Gozzo, Francesca;
- Pellacani, Simona;
- Tassi, Laura;
- Francione, Stefano;
- Giordano, Flavio;
- Cardinale, Francesco;
- Guerrini, Renzo
Publication type:
Article
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
Published in:
Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
By:
- Hildebrand, Michael S.;
- Tankard, Rick;
- Gazina, Elena V.;
- Damiano, John A.;
- Lawrence, Kate M.;
- Dahl, Hans‐Henrik M.;
- Regan, Brigid M.;
- Shearer, Aiden Eliot;
- Smith, Richard J. H.;
- Marini, Carla;
- Guerrini, Renzo;
- Labate, Angelo;
- Gambardella, Antonio;
- Tinuper, Paolo;
- Lichetta, Laura;
- Baldassari, Sara;
- Bisulli, Francesca;
- Pippucci, Tommaso;
- Scheffer, Ingrid E.;
- Reid, Christopher A.
Publication type:
Article
Lack of cortical contrast gain control in human photosensitive epilepsy.
Published in:
Nature Neuroscience, 2000, v. 3, n. 3, p. 259, doi. 10.1038/72972
By:
- Porciatti, Vittorio;
- Bonanni, Paolo;
- Fiorentini, Adriana;
- Guerrini, Renzo
Publication type:
Article
Ketamine for Refractory Status Epilepticus: A Systematic Review.
Published in:
2018
By:
- Rosati, Anna;
- De Masi, Salvatore;
- Guerrini, Renzo
Publication type:
journal article
Antiepileptic Drug Treatment in Children with Epilepsy.
Published in:
2015
By:
- Rosati, Anna;
- Masi, Salvatore;
- Guerrini, Renzo;
- De Masi, Salvatore
Publication type:
journal article
Off-Label Prescribing of Antiepileptic Drugs in Pharmacoresistant Epilepsy: A Cross-Sectional Drug Utilization Study of Tertiary Care Centers in Italy.
Published in:
CNS Drugs, 2014, v. 28, n. 10, p. 939, doi. 10.1007/s40263-014-0189-8
By:
- Franco, Valentina;
- Canevini, Maria;
- Capovilla, Giuseppe;
- Sarro, Giovambattista;
- Galimberti, Carlo;
- Gatti, Giuliana;
- Guerrini, Renzo;
- Neve, Angela;
- Rosati, Eleonora;
- Specchio, Luigi;
- Striano, Salvatore;
- Tinuper, Paolo;
- Perucca, Emilio
Publication type:
Article
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50
By:
- Ferri, Lorenzo;
- Donati, Maria A;
- Funghini, Silvia;
- Cavicchi, Catia;
- Pensato, Viviana;
- Gellera, Cinzia;
- Natacci, Federica;
- Spaccini, Luigina;
- Gasperini, Serena;
- Vaz, Frédéric M;
- Cooper, David N;
- Guerrini, Renzo;
- Morrone, Amelia
Publication type:
Article
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 995, doi. 10.1038/ejhg.2012.21
By:
- Guerrini, Renzo;
- Mei, Davide;
- Cordelli, Duccio Maria;
- Pucatti, Daniela;
- Franzoni, Emilio;
- Parrini, Elena
Publication type:
Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
By:
- Paciorkowski, Alex R;
- Thio, Liu Lin;
- Rosenfeld, Jill A;
- Gajecka, Marzena;
- Gurnett, Christina A;
- Kulkarni, Shashikant;
- Chung, Wendy K;
- Marsh, Eric D;
- Gentile, Mattia;
- Reggin, James D;
- Wheless, James W;
- Balasubramanian, Sandhya;
- Kumar, Ravinesh;
- Christian, Susan L;
- Marini, Carla;
- Guerrini, Renzo;
- Maltsev, Natalia;
- Shaffer, Lisa G;
- Dobyns, William B
Publication type:
Article
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
By:
- Filoni, Camilla;
- Caciotti, Anna;
- Carraresi, Laura;
- Donati, Maria Alice;
- Mignani, Renzo;
- Parini, Rossella;
- Filocamo, Mirella;
- Soliani, Fausto;
- Simi, Lisa;
- Guerrini, Renzo;
- Zammarchi, Enrico;
- Morrone, Amelia
Publication type:
Article
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42
By:
- Torniero, Claudia;
- Dalla Bernardina, Bernardo;
- Novara, Francesca;
- Cerini, Roberto;
- Bonaglia, Clara;
- Pramparo, Tiziano;
- Ciccone, Roberto;
- Guerrini, Renzo;
- Zuffardi, Orsetta
Publication type:
Article
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Published in:
2008
By:
- Everett, Kate;
- Chioza, Barry;
- Aicardi, Jean;
- Aschauer, Harald;
- Brouwer, Oebele;
- Callenbach, Petra;
- Covanis, Athanasios;
- Dulac, Olivier;
- Eeg-Olofsson, Orvar;
- Feucht, Martha;
- Friis, Mogens;
- Goutieres, Françoise;
- Guerrini, Renzo;
- Heils, Armin;
- Kjeldsen, Marianne;
- Lehesjoki, Anna-Elina;
- Makoff, Andrew;
- Nabbout, Rima;
- Olsson, Ingrid;
- Sander, Thomas
Publication type:
Erratum
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783
By:
- Everett, Kate V.;
- Chioza, Barry;
- Aicardi, Jean;
- Aschauer, Harald;
- Brouwer, Oebele;
- Callenbach, Petra;
- Covanis, Athanasios;
- Dulac, Olivier;
- Eeg-Olofsson, Orvar;
- Feucht, Martha;
- Friis, Mogens;
- Goutieres, Françoise;
- Guerrini, Renzo;
- Heils, Armin;
- Kjeldsen, Marianne;
- Lehesjoki, Anna-Elina;
- Makoff, Andrew;
- Nabbout, Rima;
- Olsson, Ingrid;
- Sander, Thomas
Publication type:
Article
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730
By:
- Torniero, Claudia;
- Bernardina, Bernardo dalla;
- Novara, Francesca;
- Vetro, Annalisa;
- Ricca, Ivana;
- Darra, Francesca;
- Pramparo, Tiziano;
- Guerrini, Renzo;
- Zuffardi, Orsetta
Publication type:
Article
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01001-1
By:
- Berti, Beatrice;
- Longo, Giovanna;
- Mari, Francesco;
- Doccini, Stefano;
- Piccolo, Ilaria;
- Donati, Maria Alice;
- Moro, Francesca;
- Guerrini, Renzo;
- Santorelli, Filippo M.;
- Petruzzella, Vittoria
Publication type:
Article

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