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P

Pamela Magini

irccs azienda ospedaliero - universitaria di bologna
H指数:28
被引数:2,774

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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
BRAIN
IF11.7
2022-07-0411
OAAI
Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A.; Bennett, Mark F.; Damiano, John A.; Zsurka, Gabor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stephanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.; Kunz, Wolfram S.; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0119
OAAI
Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
HUMAN GENETICS
IF3.6
2020-06-0210
PREAI
Palombo, Flavia; Graziano, Claudio; Al Wardy, Nadia; Nouri, Nayereh; Marconi, Caterina; Magini, Pamela; Severi, Giulia; La Morgia, Chiara; Cantalupo, Gaetano; Cordelli, Duccio Maria; Gangarossa, Simone; Al Kindi, Mohammed Nasser; Al Khabouri, Mazin; Salehi, Mansoor; Giorgio, Elisa; Brusco, Alfredo; Pisani, Francesco; Romeo, Giovanni; Carelli, Valerio; Pippucci, Tommaso; Seri, Marco
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

SSBP1突变导致复杂的视神经萎缩疾病的mtDNA耗竭

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2019-11-1864
OA
Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A.; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E.; Copeland, William C.; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-10-0145
OAAI
Magini, Pamela; Smits, Daphne J.; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H.; Dremmen, Marjolein; de Wit, Marie Claire Y.; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W.; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J.; Seri, Marco; Jansen, Anna C.; Stottmann, Rolf W.; Hufnagel, Robert B.; Hopkin, Robert J.; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S.; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G.; Zaki, Maha S.; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Bertoli-Avella, Aida; Mirzaa, Ghayda M.; Dobyns, William B.; Pippucci, Tommaso; Fornerod, Maarten; Mancini, Grazia M. S.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders
HUMAN GENETICS
IF3.6
2019-02-2629
OAAI
Negri, Gloria; Magini, Pamela; Milani, Donatella; Crippa, Milena; Biamino, Elisa; Piccione, Maria; Sotgiu, Stefano; Perria, Chiara; Vitiello, Giuseppina; Frontali, Marina; Boni, Antonella; Di Fede, Elisabetta; Gandini, Maria Chiara; Colombo, Elisa Adele; Bamshad, Michael J.; Nickerson, Deborah A.; Smith, Joshua D.; Loddo, Italia; Finelli, Palma; Seri, Marco; Pippucci, Tommaso; Larizza, Lidia; Gervasini, Cristina
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-10-01139
OAAI
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; McLaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

从全基因缺失到EP300-Positive rubinstein-taybi患者的点突变: 对突变谱和特殊临床特征的新见解

HUMAN MUTATION
IF3.7
2015-11-0439
OAAI
Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
EMBO MOLECULAR MEDICINE
IF8.3
2015-04-1343
OAAI
Pippucci, Tommaso; Maresca, Alessandra; Magini, Pamela; Cenacchi, Giovanna; Donadio, Vincenzo; Palombo, Flavia; Papa, Valentina; Incensi, Alex; Gasparre, Giuseppe; Valentino, Maria Lucia; Preziuso, Carmela; Pisano, Annalinda; Ragno, Michele; Liguori, Rocco; Giordano, Carla; Tonon, Caterina; Lodi, Raffaele; Parmeggiani, Antonia; Carelli, Valerio; Seri, Marco
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients (vol 6, pg 795, 2014)
EMBO MOLECULAR MEDICINE
IF8.3
2014-12-031
OAAI
Bonora, Elena; Graziano, Claudio; Minopoli, Fiorella; Bacchelli, Elena; Magini, Pamela; Diquigiovanni, Chiara; Lomartire, Silvia; Bianco, Francesca; Vargiolu, Manuela; Parchi, Piero; Marasco, Elena; Mantovani, Vilma; Rampoldi, Luca; Trudu, Matteo; Parmeggiani, Antonia; Battaglia, Agatino; Mazzone, Luigi; Tortora, Giada; Maestrini, Elena; Seri, Marco; Romeo, Giovanni
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2014-08-2074
OAAI
Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Luedecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut

研究方向

暂未获取到该数据
M
Marco Seri
H 指数:58论文数:353被引数:1.2万
T
Tommaso Pippucci
H 指数:42论文数:171被引数:5,655
C
Claudio Graziano
H 指数:30论文数:156被引数:2,616
F
Francesca Bisulli
H 指数:52论文数:388被引数:1.1万
F
Flavia Palombo
H 指数:18论文数:67被引数:1,508
P
Paolo Tinuper
H 指数:63论文数:540被引数:1.7万
L
Laura Licchetta
H 指数:34论文数:185被引数:5,447
P
Piero Parchi
H 指数:84论文数:411被引数:2.3万
E
Elena Bonora
H 指数:35论文数:158被引数:4,068
F
Francesca Novara
H 指数:37论文数:102被引数:5,504