MINARDI, RAFFAELLA

MINARDI, RAFFAELLA  

DIPARTIMENTO DI MEDICINA SPECIALISTICA, DIAGNOSTICA E SPERIMENTALE (attivo dal 28/10/2011 al 31/12/2022)  

Collaboratori  

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Risultati 1 - 20 di 23 (tempo di esecuzione: 0.054 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep Licchetta L.; Di Giorgi L.; Santucci M.; Taruffi L.; Stipa C.; Minardi R.; Carelli V.; Bisulli F. 2024-01-01 MOLECULAR GENETICS & GENOMIC MEDICINE - 1.01 Articolo in rivista Molec Gen Gen Med - 2023 - Licchetta - Biallelic pathogenic variants of PARS2 cause developmental and epileptic.pdf
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation Giannini, Giulia; Minardi, Raffaella; Barletta, Giorgio; Cani, Ilaria; Cecere, Annagrazia; Baldel...li, Luca; Fiorentino, Alessia; Guaraldi, Pietro; Sambati, Luisa; Capellari, Sabina; Cortelli, Pietro; Carelli, Valerio; Calandra-Buonaura, Giovanna 2024-01-01 JOURNAL OF PARKINSON'S DISEASE - 1.01 Articolo in rivista -
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals Montanucci L.; Lewis-Smith D.; Collins R.L.; Niestroj L.-M.; Parthasarathy S.; Xian J.; Ganesan S....; Macnee M.; Brunger T.; Thomas R.H.; Talkowski M.; Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Goldstein D.B.; Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leech S.L.; Leu C.; Lewis-Smith D.; O'Brien T.J.; Todaro M.; Stamberger H.; Depondti C.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Yiolanda C.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.H.; von Wrede R.; Helbig I.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Lauxmann S.; Bosselmann C.; Kegele J.; Hengsbach C.; Rau S.; Steinhoff B.J.; Schulze-Bonhage A.; Borggrafe I.; Schankin C.J.; Schubert-Bast S.; Schreiber H.; Mayer T.; Korinthenberg R.; Brockmann K.; Wolff M.; Kurlemann G.; Dennig D.; Madeleyn R.; Kalviainen R.; Saarela A.; Timonen O.; Linnankivi T.; Lehesjoki A.-E.; Rheims S.; Lesca G.; Ryvlin P.; Maillard L.; Valton L.; Derambure P.; Bartolomei F.; Hirsch E.; Michel V.; Chassoux F.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.H.W.; Baker M.D.; Fonferko-Shadrach B.; Lawthom C.; Anderson J.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Kwan P.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Delanty N.; Doherty C.P.; Shukralla A.; El-Naggar H.; Widdess-Walsh P.; Barisic N.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Ragona F.; Zara F.; Iacomino M.; Riva A.; Madia F.; Vari M.S.; Salpietro V.; Scala M.; Mancardi M.M.; Lino N.; Amadori E.; Giacomini T.; Bisulli F.; Pippucci T.; Licchetta L.; Minardi R.; Tinuper P.; Muccioli L.; Mostacci B.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Barba C.; Hirose S.; Ishii A.; Suzuki T.; Inoue Y.; Yamakawa K.; Beydoun A.; Nasreddine W.; Khoueiry-Zgheib N.; Tumiene B.; Utkus A.; Sadleir L.G.; King C.; Caglayan S.H.; Arslan M.; Yapici Z.; Topaloglu P.; Kara B.; Yis U.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Tsai M.-H.; Ho C.-J.; Lin C.-H.; Lin K.-L.; Chou I.-J.; Poduri A.; Shiedley B.R.; Shain C.; Noebels J.L.; Goldman A.; Busch R.M.; Jehi L.; Najm I.M.; Lal D.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Dlugos D.J.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Greenberg D.A.; Ellis C.A.; Goldberg E.; Helbig K.L.; Cosico M.; Vaidiswaran P.; Fitch E.; Newton C.R.J.C.; Kariuki S.M.; Wagner R.G.; Owusu-Agyei S.; Cole A.J.; McGraw C.M.; Siena S.A.; Davis L.; Hucks D.; Faucon A.; Wu D.; Abou-Khalil B.W.; Haas K.; Taneja R.S.; Helbig I.; Leu C.; Lal D.; Epi25 Collaborative 2023-01-01 NATURE COMMUNICATIONS - 1.01 Articolo in rivista s41467-023-39539-6.pdf39539.zip
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou-Khalil, Oluyomi M. Adesoji, Zaid Afawi, ...Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, Grazia Annesi, Pauls Auce, Andreja Avbersek, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Carmen Barba, Karen Barboza,Fabrice Bartolomei, Thomas Bast, Larry Baum, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Albert J. Becker33, Felicitas Becker34, Caitlin A. Bennett, Bianca Berghuis36, Samuel F. Berkovic ✉, Ahmad Beydoun37,
Claudia Bianchini23, Francesca Bisulli, Ilan Blatt8,40, Dheeraj R. Bobbili41, Ingo Borggraefe42,43, Christian Bosselmann44,
Vera Braatz17,22, Jonathan P. Bradfield45,46, Knut Brockmann47, Lawrence C. Brody48, Russell J. Buono45,49,50, Robyn M. Busch51,52,53,
Hande Caglayan54, Ellen Campbell55, Laura Canafoglia56, Christina Canavati57, Gregory D. Cascino58, Barbara Castellotti59,
Claudia B. Catarino17, Gianpiero L. Cavalleri2,3 ✉, Felecia Cerrato60, Francine Chassoux61, Stacey S. Cherny28,62,
Ching-Lung Cheung63, Krishna Chinthapalli17, I-Jun Chou64, Seo-Kyung Chung65,66, Claire Churchhouse4,5,60, Peggy O. Clark67,
Andrew J. Cole68, Alastair Compston69, Antonietta Coppola70, Mahgenn Cosico71,72, Patrick Cossette73, John J. Craig74,
Caroline Cusick60, Mark J. Daly4,5,60,75, Lea K. Davis76,77,78,79, Gerrit-Jan de Haan80, Norman Delanty2,3,81, Chantal Depondt82,
Philippe Derambure83, Orrin Devinsky84, Lidia Di Vito38, Dennis J. Dlugos71, Viola Doccini23, Colin P. Doherty3,85,
Hany El-Naggar2,3,81, Christian E. Elger30, Colin A. Ellis86, Johan G. Eriksson87, Annika Faucon88, Yen-Chen A. Feng4,5,60,89,90,
Lisa Ferguson52, Thomas N. Ferraro49,91, Lorenzo Ferri, Martha Feucht92, Mark Fitzgerald71,72,86, Beata Fonferko-Shadrach21,
Francesco Fortunato93, Silvana Franceschetti94, Andre Franke95, Jacqueline A. French96, Elena Freri97, Monica Gagliardi98,
Antonio Gambardella93, Eric B. Geller99, Tania Giangregorio38, Leif Gjerstad100, Tracy Glauser67, Ethan Goldberg71,72,
Alicia Goldman101, Tiziana Granata97, David A. Greenberg102, Renzo Guerrini23, Namrata Gupta5, Kevin F. Haas6,
Hakon Hakonarson45,103, Kerstin Hallmann30,104, Emadeldin Hassanin41,105, Manu Hegde106, Erin L. Heinzen107,108,
Ingo Helbig71,72,86,95,109,110, Christian Hengsbach44, Henrike O. Heyne5,75,111,112, Shinichi Hirose113, Edouard Hirsch114,
Helle Hjalgrim115,116, Daniel P. Howrigan4,5,60, Donald Hucks76,79, Po-Cheng Hung64, Michele Iacomino10, Lukas L. Imbach117,
Yushi Inoue118, Atsushi Ishii119, Jennifer Jamnadas-Khoda17,120, Lara Jehi52,53, Michael R. Johnson121, Reetta Kälviäinen122,123,
Yoichiro Kamatani124, Moien Kanaan57, Masahiro Kanai125,126, Anne-Mari Kantanen122, Bülent Kara127, Symon M. Kariuki128,129,130,
Dalia Kasperavičiūte17, Dorothee Kasteleijn-Nolst Trenite1, Mitsuhiro Kato131, Josua Kegele44, Yeşim Kesim31,
Nathalie Khoueiry-Zgheib132, Chontelle King133, Heidi E. Kirsch106, Karl M. Klein134,135,136,137, Gerhard Kluger138,139,
Susanne Knake134,137, Robert C. Knowlton106, Bobby P. C. Koeleman1 ✉, Amos D. Korczyn8, Andreas Koupparis140,
Ioanna Kousiappa140, Roland Krause41, Martin Krenn141, Heinz Krestel135,137,142,143, Ilona Krey144, Wolfram S. Kunz30,145,
Mitja I. Kurki4,5,60,75, Gerhard Kurlemann146, Ruben Kuzniecky147, Patrick Kwan11,12,148, Angelo Labate149, Austin Lacey2,3,81,
Dennis Lal51,52,60, Zied Landoulsi41, Yu-Lung Lau150, Stephen Lauxmann44, Stephanie L. Leech35, Anna-Elina Lehesjoki151,
Johannes R. Lemke144, Holger Lerche44, Gaetan Lesca152, Costin Leu17,51,60, Naomi Lewin71,72, David Lewis-Smith71,110,153,154,
Gloria H.-Y. Li63,155, Qingqin S. Li156, Laura Licchetta, Kuang-Lin Lin64, Dick Lindhout1,80, Tarja Linnankivi157,158,159,
Iscia Lopes-Cendes160, Daniel H. Lowenstein106, Colin H. T. Lui161, Francesca Madia10, Sigurdur Magnusson162,
Anthony G. Marson163, Patrick May41, Christopher M. McGraw68, Davide Mei23, James L. Mills164, Raffaella Minardi, Nasir Mirza163,
Rikke S. Møller115,116, Anne M. Molloy165, Martino Montomoli23, Barbara Mostacci, Lorenzo Muccioli, Hiltrud Muhle109,
Karen Müller-Schlüter166, Imad M. Najm52,53, Wassim Nasreddine37, Benjamin M. Neale4,5,60, Bernd Neubauer167,
Charles R. J. C. Newton128,129,130, Markus M. Nöthen168, Michael Nothnagel7,169, Peter Nürnberg7, Terence J. O’Brien11,12,
Yukinori Okada126,170, Elías Ólafsson171, Karen L. Oliver18,19,35, Çiğdem Özkara172, Aarno Palotie4,5,60,75, Faith Pangilinan48,
Savvas S. Papacostas140, Elena Parrini23, Carlos N. Pato173, Michele T. Pato173, Manuela Pendziwiat95,109, Slavé Petrovski11,174,
William O. Pickrell21,175, Rebecca Pinsky176, Tommaso Pippucci, Annapurna Poduri176, Federica Pondrelli, Rob H. W. Powell175,
Michael Privitera178, Annika Rademacher109, Rodney Radtke179, Francesca Ragona97, Sarah Rau44, Mark I. Rees66,180,
Brigid M. Regan35, Philipp S. Reif134,135,137, Sylvain Rhelms181,182, Antonella Riva9,10, Felix Rosenow134,135,137, Philippe Ryvlin183,
Anni Saarela122,123, Lynette G. Sadleir133, Josemir W. Sander17,22,80, Thomas Sander7,184, Marcello Scala9,10, Theresa Scattergood185,
Steven C. Schachter186, Christoph J. Schankin142,187, Ingrid E. Scheffer35,188, Bettina Schmitz184, Susanne Schoch33,
Susanne Schubert-Bast135,137, Andreas Schulze-Bonhage189, Paolo Scudieri9,10, Pak Sham28, Beth R. Sheidley176, Jerry J. Shih190,
Graeme J. Sills191, Sanjay M. Sisodiya17,22, Michael C. Smith192, Philip E. Smith193, Anja C. M. Sonsma1, Doug Speed194,195,
Michael R. Sperling196, Hreinn Stefansson162, Kári Stefansson162, Bernhard J. Steinhoff26,27, Ulrich Stephani109,
William C. Stewart197,198, Carlotta Stipa38, Pasquale Striano9,10, Hans Stroink199, Adam Strzelczyk134,135,137, Rainer Surges30,
Toshimitsu Suzuki200,201, K. Meng Tan11, R. S. Taneja6, George A. Tanteles140, Erik Taubøll100, Liu Lin Thio202, G. Neil Thomas203,
Rhys H. Thomas153,154, Oskari Timonen123, Paolo Tinuper, Marian Todaro11,12, Pınar Topaloğlu204, Rossana Tozzi205,
Meng-Han Tsai206, Birute Tumiene207,208, Dilsad Turkdogan209, Unnur Unnsteinsdóttir162, Algirdas Utkus208, Priya Vaidiswaran71,72,
Luc Valton210, Andreas van Baalen109, Annalisa Vetro23, Eileen P. G. Vining211, Frank Visscher212, Sophie von Brauchitsch135,137,
Randi von Wrede30, Ryan G. Wagner213, Yvonne G. Weber44,214, Sarah Weckhuysen215,216,217, Judith Weisenberg202, Michael Weller218,
Peter Widdess-Walsh2,3,81, Markus Wolff219, Stefan Wolking214, David Wu88, Kazuhiro Yamakawa200,201, Wanling Yang150,
Zuhal Yapıcı204, Emrah Yücesan220, Sara Zagaglia17,22, Felix Zahnert134, Federico Zara9,10, Wei Zhou4,5,60, Fritz Zimprich141,
Gábor Zsurka30,145 & Quratulain Zulfiqar Ali14
2023-01-01 NATURE GENETICS - 1.01 Articolo in rivista -
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data Pondrelli F.; Minardi R.; Muccioli L.; Zenesini C.; Vignatelli L.; Licchetta L.; Mostacci B.; Tin...uper P.; Vander Kooi C.W.; Gentry M.S.; Bisulli F. 2023-01-01 ORPHANET JOURNAL OF RARE DISEASES - 1.01 Articolo in rivista s13023-023-02880-6.pdf2880.zip
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy Licchetta, Laura; Minardi, Raffaella; Muccioli, Lorenzo; Gramegna, Laura Ludovica; Manners, David... Neil; Tonon, Caterina; Bisulli, Francesca; Tinuper, Paolo 2022-01-01 NEUROLOGY. GENETICS - 1.01 Articolo in rivista December 2022; 8 (6).pdf
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency Cani I.; Pondrelli F.; Licchetta L.; Minardi R.; Giangregorio T.; Mostacci B.; Muccioli L.; Di Vi...to L.; Fetta A.; Barba C.; Castioni C.A.; Bordugo A.; Tinuper P.; Bisulli F. 2022-01-01 EPILEPSIA OPEN - 1.01 Articolo in rivista Epilepsia Open - 2022 - Cani - Epilepsy and inborn errors of metabolism in adults The diagnostic odyssey of a young woman.pdfsupplementary materials.zip
Epilepsy With Auditory Features: From Etiology to Treatment Furia A.; Licchetta L.; Muccioli L.; Ferri L.; Mostacci B.; Mazzoni S.; Menghi V.; Minardi R.; Ti...nuper P.; Bisulli F. 2022-01-01 FRONTIERS IN NEUROLOGY - 1.01 Articolo in rivista fneur-12-807939.pdf
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant De Bernardi M.L.; Di Stazio A.; Romano A.; Minardi R.; Bisulli F.; Licchetta L.; Aiello S.; Carel...li V.; Brunetti-Pierri N.; Cappuccio G.; Terrone G. 2022-01-01 EUROPEAN JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts Percetti, Marco; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; Carelli, Valerio; Val...ente, Enza Maria; Di Fonzo, Alessio 2022-01-01 MOVEMENT DISORDERS - 1.04 Replica / breve intervento (e simili) -
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants Schwarz N.; Seiffert S.; Pendziwiat M.; Rademacher A.V.; Brunger T.; Hedrich U.B.S.; Augustijn P....B.; Baier H.; Bayat A.; Bisulli F.; Buono R.J.; Bruria B.Z.; Doyle M.G.; Guerrini R.; Heimer G.; Iacomino M.; Kearney H.; Klein K.M.; Kousiappa I.; Kunz W.S.; Lerche H.; Licchetta L.; Lohmann E.; Minardi R.; McDonald M.; Montgomery S.; Mulahasanovic L.; Oegema R.; Ortal B.; Papacostas S.S.; Ragona F.; Granata T.; Reif P.S.; Rosenow F.; Rothschild A.; Scudieri P.; Striano P.; Tinuper P.; Tanteles G.A.; Vetro A.; Zahnert F.; Goldberg E.M.; Zara F.; Lal D.; May P.; Muhle H.; Helbig I.; Weber Y. 2022-01-01 NEUROLOGY - 1.01 Articolo in rivista e2046.full (1).pdf
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La ...Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo 2022-01-01 MOVEMENT DISORDERS - 1.01 Articolo in rivista Movement Disorders - 2022 - Percetti - TWNK in Parkinson s Disease A Movement Disorder and Mitochondrial Disease Center.pdfMDS-37-1938-s001.pdf
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy Licchetta L.; Ferri L.; La Morgia C.; Zenesini C.; Caporali L.; Lucia Valentino M.; Minardi R.; F...ulitano D.; Di Vito L.; Mostacci B.; Alvisi L.; Avoni P.; Liguori R.; Tinuper P.; Bisulli F.; Carelli V. 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista Ann Clin Transl Neurol - 2021 - Licchetta - Epilepsy in MT‐ATP6 ‐ related mils NARP correlation of elettroclinical.pdfACN3-8-704-s001.docx
Epilepsy with auditory features: Contribution of known genes in 112 patients Bisulli F.; Rinaldi C.; Pippucci T.; Minardi R.; Baldassari S.; Zenesini C.; Mostacci B.; Fanella... M.; Avoni P.; Menghi V.; Caporali L.; Muccioli L.; Tinuper P.; Licchetta L. 2021-01-01 SEIZURE - 1.01 Articolo in rivista -
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Ab...bott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leu C.; Leech S.L.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Christou Y.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.M.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.; von Wrede R.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Lauxmann S.; Bosselmann C.; Kegele J.; Hengsbach C.; Rau S.; Steinhoff B.J.; Schulze-Bonhage A.; Borggrafe I.; Schankin C.J.; Schubert-Bast S.; Schreiber H.; Mayer T.; Korinthenberg R.; Brockmann K.; Wolff M.; Dennig D.; Madeleyn R.; Kalviainen R.; Saarela A.; Timonen O.; Linnankivi T.; Lehesjoki A.-E.; Rheims S.; Lesca G.; Ryvlin P.; Maillard L.; Valton L.; Derambure P.; Bartolomei F.; Hirsch E.; Michel V.; Chassoux F.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Baker M.D.; Fonferko-Shadrach B.; Lawthom C.; Anderson J.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Delanty N.; Doherty C.P.; Shukralla A.; El-Naggar H.; Widdess-Walsh P.; Barisic N.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Ragona F.; Zara F.; Iacomino M.; Riva A.; Madia F.; Vari M.S.; Salpietro V.; Scala M.; Mancardi M.M.; Nobili L.; Amadori E.; Giacomini T.; Bisulli F.; Pippucci T.; Licchetta L.; Minardi R.; Tinuper P.; Muccioli L.; Mostacci B.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Barba C.; Hirose S.; Ishii A.; Suzuki T.; Inoue Y.; Yamakawa K.; Beydoun A.; Nasreddine W.; Khoueiry Zgheib N.; Tumiene B.; Utkus A.; Sadleir L.G.; King C.; Caglayan S.H.; Arslan M.; Yapici Z.; Topaloglu P.; Kara B.; Yis U.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Tsai M.-H.; Ho C.-J.; Lin C.-H.; Lin K.-L.; Chou I.-J.; Poduri A.; Shiedley B.R.; Shain C.; Noebels J.L.; Goldman A.; Busch R.M.; Jehi L.; Najm I.M.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Greenberg D.A.; Ellis C.A.; Goldberg E.; Helbig K.L.; Cosico M.; Vaidiswaran P.; Fitch E.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; Goldstein D.B. 2021-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L....; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F. 2020-01-01 MOLECULAR DIAGNOSIS & THERAPY - 1.01 Articolo in rivista -
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation Michelucci R.; Dazzo E.; Volpi L.; Pasini E.; Riguzzi P.; Minardi R.; Marliani A.F.; Tappata M.; ...Bisulli F.; Tassinari C.A.; Nobile C. 2020-01-01 EPILEPTIC DISORDERS - 1.01 Articolo in rivista Epileptic Disorders - 2020 - Michelucci - Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin.pdf
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene Mastrangelo V.; Minardi R.; Baroni M.C.; Severi G.; Ambrosini E.; Toni F.; Alvisi L.; Licchetta L....; Bisulli F.; Tinuper P.; Mostacci B. 2020-01-01 SEIZURE - 1.04 Replica / breve intervento (e simili) -
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families Mantovani V.; Bin S.; Graziano C.; Capelli I.; Minardi R.; Aiello V.; Ambrosini E.; Cristalli C.P....; Mattiaccio A.; Pariali M.; De Fanti S.; Faletra F.; Grosso E.; Cantone R.; Mancini E.; Mencarelli F.; Pasini A.; Wischmeijer A.; Sciascia N.; Seri M.; La Manna G. 2020-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Mantovani V et al_Front Genet 2020.pdf
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late Minardi R.; Licchetta L.; Baroni M.C.; Pippucci T.; Stipa C.; Mostacci B.; Severi G.; Toni F.; Be...rgonzini L.; Carelli V.; Seri M.; Tinuper P.; Bisulli F. 2020-01-01 CLINICAL GENETICS - 1.01 Articolo in rivista Clinical Genetics - 2020 - Minardi - Whole‐exome sequencing in adult patients with developmental and epileptic.pdfcge13823-sup-0003-tables2.docxcge13823-sup-0004-tables3.docxcge13823-sup-0005-supinfo.docx