Works matching AU Scala, Marcello

Results: 63
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    Spinal involvement in pediatric familial cavernous malformation syndrome.

    Published in:
    Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
    By:
    • Geraldo, Ana Filipa;
    • Luis, Aysha;
    • Alves, Cesar Augusto P. F.;
    • Tortora, Domenico;
    • Guimarães, Joana;
    • Reimão, Sofia;
    • Pavanello, Marco;
    • de Marco, Patrizia;
    • Scala, Marcello;
    • Capra, Valeria;
    • Rossi, Andrea;
    • Schwartz, Erin Simon;
    • Mankad, Kshitij;
    • Severino, Mariasavina
    Publication type:
    Article
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    Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
    By:
    • Chelleri, Cristina;
    • Brolatti, Noemi;
    • De Marco, Patrizia;
    • Ognibene, Marzia;
    • Diana, Maria Cristina;
    • Madia, Francesca;
    • Duca, Marco Di;
    • Santangelo, Andrea;
    • Capra, Valeria;
    • Striano, Pasquale;
    • Zara, Federico;
    • Scala, Marcello
    Publication type:
    Article
    6

    Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
    By:
    • Romano, Ferruccio;
    • Haanpää, Maria K.;
    • Pomianowski, Pawel;
    • Peraino, Amanda Rose;
    • Pollard, John R.;
    • Di Feo, Maria Francesca;
    • Traverso, Monica;
    • Severino, Mariasavina;
    • Derchi, Maria;
    • Henzen, Edoardo;
    • Zara, Federico;
    • Faravelli, Francesca;
    • Capra, Valeria;
    • Scala, Marcello
    Publication type:
    Article
    7

    Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.

    Published in:
    Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00644
    By:
    • Iacomino, Michele;
    • Baldassari, Simona;
    • Tochigi, Yuki;
    • Kośla, Katarzyna;
    • Buffelli, Francesca;
    • Torella, Annalaura;
    • Severino, Mariasavina;
    • Paladini, Dario;
    • Mandarà, Luana;
    • Riva, Antonella;
    • Scala, Marcello;
    • Balagura, Ganna;
    • Accogli, Andrea;
    • Nigro, Vincenzo;
    • Minetti, Carlo;
    • Fulcheri, Ezio;
    • Zara, Federico;
    • Bednarek, Andrzej K.;
    • Striano, Pasquale;
    • Suzuki, Hiroetsu
    Publication type:
    Article
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    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
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    Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.

    Published in:
    Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00860-1
    By:
    • Amadori, Elisabetta;
    • Scala, Marcello;
    • Cereda, Giulia Sofia;
    • Vari, Maria Stella;
    • Marchese, Francesca;
    • Di Pisa, Veronica;
    • Mancardi, Maria Margherita;
    • Giacomini, Thea;
    • Siri, Laura;
    • Vercellino, Fabiana;
    • Serino, Domenico;
    • Orsini, Alessandro;
    • Bonuccelli, Alice;
    • Bagnasco, Irene;
    • Papa, Amanda;
    • Minetti, Carlo;
    • Cordelli, Duccio Maria;
    • Striano, Pasquale
    Publication type:
    Article
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    Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
    By:
    • Salian, Smrithi;
    • Scala, Marcello;
    • Nguyen, Thi Tuyet Mai;
    • Severino, Mariasavina;
    • Accogli, Andrea;
    • Amadori, Elisabetta;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Hudson, Beth;
    • Boothe, Megan;
    • Hurst, Anna;
    • Ben‐Omran, Tawfeg;
    • Larsen, Martin J.;
    • Fagerberg, Christina R.;
    • Sperling, Lene;
    • Miceikaite, Ieva;
    • Herissant, Lucas;
    • Doco‐Fenzy, Martine;
    • Jennesson, Mélanie;
    • Nigro, Vincenzo
    Publication type:
    Article
    18

    Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

    Published in:
    Frontiers in Molecular Neuroscience, 2024, p. 01, doi. 10.3389/fnmol.2024.1222935
    By:
    • Efthymiou, Stephanie;
    • Han, Wenyan;
    • Ilyas, Muhammad;
    • Jun Li;
    • Yichao Yu;
    • Scala, Marcello;
    • Malintan, Nancy T.;
    • Vavouraki, Nikoleta;
    • Mankad, Kshitij;
    • Maroofian, Reza;
    • Rocca, Clarissa;
    • Salpietro, Vincenzo;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Palculict, Timothy Blake;
    • Hong Li;
    • Guojun Zhang;
    • Zafar, Faisal;
    • Rana, Nuzhat;
    • Noriko Takashima
    Publication type:
    Article
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    Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.

    Published in:
    Expert Review of Neurotherapeutics, 2020, v. 20, n. 3, p. 251, doi. 10.1080/14737175.2020.1713101
    By:
    • Scala, Marcello;
    • Bianchi, Amedeo;
    • Bisulli, Francesca;
    • Coppola, Antonietta;
    • Elia, Maurizio;
    • Trivisano, Marina;
    • Pruna, Dario;
    • Pippucci, Tommaso;
    • Canafoglia, Laura;
    • Lattanzi, Simona;
    • Franceschetti, Silvana;
    • Nobile, Carlo;
    • Gambardella, Antonio;
    • Michelucci, Roberto;
    • Zara, Federico;
    • Striano, Pasquale
    Publication type:
    Article
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    Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
    By:
    • Allen, James P;
    • Garber, Kathryn B;
    • Perszyk, Riley;
    • Khayat, Cara T;
    • Kell, Steven A;
    • Kaneko, Maki;
    • Quindipan, Catherine;
    • Saitta, Sulagna;
    • Ladda, Roger L;
    • Hewson, Stacy;
    • Inbar-Feigenberg, Michal;
    • Prasad, Chitra;
    • Prasad, Asuri N;
    • Olewiler, Leah;
    • Mu, Weiyi;
    • Rosenthal, Liana S;
    • Scala, Marcello;
    • Striano, Pasquale;
    • Zara, Federico;
    • McCullock, Tyler W
    Publication type:
    Article
    23

    Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

    Published in:
    Genes, 2022, v. 13, n. 2, p. 276, doi. 10.3390/genes13020276
    By:
    • Orsini, Alessandro;
    • Santangelo, Andrea;
    • Bravin, Francesca;
    • Bonuccelli, Alice;
    • Peroni, Diego;
    • Battini, Roberta;
    • Foiadelli, Thomas;
    • Bertini, Veronica;
    • Valetto, Angelo;
    • Iacomino, Michele;
    • Nigro, Vincenzo;
    • Torella, Anna Laura;
    • Scala, Marcello;
    • Capra, Valeria;
    • Vari, Maria Stella;
    • Fetta, Anna;
    • Di Pisa, Veronica;
    • Montanari, Francesca;
    • Epifanio, Roberta;
    • Bonanni, Paolo
    Publication type:
    Article
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    Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4471, doi. 10.3390/ijms22094471
    By:
    • Riva, Antonella;
    • Gambadauro, Antonella;
    • Dipasquale, Valeria;
    • Casto, Celeste;
    • Ceravolo, Maria Domenica;
    • Accogli, Andrea;
    • Scala, Marcello;
    • Ceravolo, Giorgia;
    • Iacomino, Michele;
    • Zara, Federico;
    • Striano, Pasquale;
    • Cuppari, Caterina;
    • Di Rosa, Gabriella;
    • Cutrupi, Maria Concetta;
    • Salpietro, Vincenzo;
    • Chimenz, Roberto;
    • Żarnowski, Tomasz
    Publication type:
    Article
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    Temporal‐parietal‐occipital epilepsy in GEFS+ associated with SCN1A mutation.

    Published in:
    Epileptic Disorders, 2021, v. 23, n. 2, p. 397, doi. 10.1684/epd.2021.1266
    By:
    • Riva, Antonella;
    • Coppola, Antonietta;
    • Balagura, Ganna;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Marchese, Francesca;
    • Amadori, Elisabetta;
    • Lattanzi, Simona;
    • Meo, Roberta;
    • Striano, Salvatore;
    • Salpietro, Vincenzo;
    • Zara, Federico;
    • Minetti, Carlo;
    • Striano, Pasquale;
    • Bilo, Leonilda
    Publication type:
    Article
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    Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2
    By:
    • Accogli, Andrea;
    • Shakya, Saurabh;
    • Yang, Taewoo;
    • Insinna, Christine;
    • Kim, Soo Yeon;
    • Bell, David;
    • Butov, Kirill R.;
    • Severino, Mariasavina;
    • Niceta, Marcello;
    • Scala, Marcello;
    • Lee, Hyun Sik;
    • Yoo, Taekyeong;
    • Stauffer, Jimmy;
    • Zhao, Huijie;
    • Fiorillo, Chiara;
    • Pedemonte, Marina;
    • Diana, Maria C.;
    • Baldassari, Simona;
    • Zakharova, Viktoria;
    • Shcherbina, Anna
    Publication type:
    Article
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    Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

    Published in:
    Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
    By:
    • Ognibene, Marzia;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Schiavetti, Irene;
    • Madia, Francesca;
    • Traverso, Monica;
    • Guerrisi, Sara;
    • Di Duca, Marco;
    • Caroli, Francesco;
    • Baldassari, Simona;
    • Tappino, Barbara;
    • Romano, Ferruccio;
    • Uva, Paolo;
    • Vozzi, Diego;
    • Chelleri, Cristina;
    • Piatelli, Gianluca;
    • Diana, Maria Cristina;
    • Zara, Federico;
    • Capra, Valeria;
    • Pavanello, Marco
    Publication type:
    Article
    36

    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

    Published in:
    Cancers, 2021, v. 13, n. 8, p. 1879, doi. 10.3390/cancers13081879
    By:
    • Scala, Marcello;
    • Schiavetti, Irene;
    • Madia, Francesca;
    • Chelleri, Cristina;
    • Piccolo, Gianluca;
    • Accogli, Andrea;
    • Riva, Antonella;
    • Salpietro, Vincenzo;
    • Bocciardi, Renata;
    • Morcaldi, Guido;
    • Di Duca, Marco;
    • Caroli, Francesco;
    • Verrico, Antonio;
    • Milanaccio, Claudia;
    • Viglizzo, Gianmaria;
    • Traverso, Monica;
    • Baldassari, Simona;
    • Scudieri, Paolo;
    • Iacomino, Michele;
    • Piatelli, Gianluca
    Publication type:
    Article
    37

    Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
    By:
    • Kolvenbach, Caroline M.;
    • van der Ven, Amelie T.;
    • Kause, Franziska;
    • Shril, Shirlee;
    • Scala, Marcello;
    • Connaughton, Dervla M.;
    • Mann, Nina;
    • Nakayama, Makiko;
    • Dai, Rufeng;
    • Kitzler, Thomas M.;
    • Schneider, Ronen;
    • Schierbaum, Luca;
    • Schneider, Sophia;
    • Accogli, Andrea;
    • Torella, Annalaura;
    • Piatelli, Gianluca;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Hoppe, Bernd;
    • Märzheuser, Stefanie
    Publication type:
    Article
    38

    Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
    By:
    • Serey‐Gaut, Margaux;
    • Scala, Marcello;
    • Reversade, Bruno;
    • Ruaud, Lyse;
    • Cabrol, Christelle;
    • Musacchia, Francesco;
    • Torella, Annalaura;
    • Accogli, Andrea;
    • Escande‐Beillard, Nathalie;
    • Langlais, Jean;
    • Piatelli, Gianluca;
    • Consales, Alessandro;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Van Maldergem, Lionel
    Publication type:
    Article
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    Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
    By:
    • Efthymiou, Stephanie;
    • Scala, Marcello;
    • Nagaraj, Vini;
    • Ochenkowska, Katarzyna;
    • Komdeur, Fenne L;
    • Liang, Robin A;
    • Abdel-Hamid, Mohamed S;
    • Sultan, Tipu;
    • Barøy, Tuva;
    • Ghelue, Marijke Van;
    • Vona, Barbara;
    • Maroofian, Reza;
    • Zafar, Faisal;
    • Alkuraya, Fowzan S;
    • Zaki, Maha S;
    • Severino, Mariasavina;
    • Duru, Kingsley C;
    • Tryon, Robert C;
    • Brauteset, Lin Vigdis;
    • Ansari, Morad
    Publication type:
    Article
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    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

    Published in:
    2022
    By:
    • Scala, Marcello;
    • Nishikawa, Masashi;
    • Ito, Hidenori;
    • Tabata, Hidenori;
    • Khan, Tayyaba;
    • Accogli, Andrea;
    • Davids, Laura;
    • Ruiz, Anna;
    • Chiurazzi, Pietro;
    • Cericola, Gabriella;
    • Schulte, Björn;
    • Monaghan, Kristin G;
    • Begtrup, Amber;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Denommé-Pichon, Anne Sophie;
    • Vitobello, Antonio;
    • Racine, Caroline;
    • Mancardi, Maria Margherita;
    • Kiss, Courtney
    Publication type:
    journal article
    44

    mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

    Published in:
    2022
    By:
    • Calhoun, Jeffrey D;
    • Aziz, Miriam C;
    • Happ, Hannah C;
    • Gunti, Jonathan;
    • Gleason, Colleen;
    • Mohamed, Najma;
    • Zeng, Kristy;
    • Hiller, Meredith;
    • Bryant, Emily;
    • Mithal, Divakar S;
    • Bellinski, Irena;
    • Kinsley, Lisa;
    • Grimmel, Mona;
    • Schwaibold, Eva M C;
    • Smith-Hicks, Constance;
    • Chassevent, Anna;
    • Scala, Marcello;
    • Accogli, Andrea;
    • Torella, Annalaura;
    • Striano, Pasquale
    Publication type:
    journal article
    45

    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

    Published in:
    2020
    By:
    • Neuray, Caroline;
    • Maroofian, Reza;
    • Scala, Marcello;
    • Sultan, Tipu;
    • Pai, Gurpur S;
    • Mojarrad, Majid;
    • Khashab, Heba El;
    • deHoll, Leigh;
    • Yue, Wyatt;
    • Alsaif, Hessa S;
    • Zanetti, Maria N;
    • Bello, Oscar;
    • Person, Richard;
    • Eslahi, Atieh;
    • Khazaei, Zaynab;
    • Feizabadi, Masoumeh H;
    • Efthymiou, Stephanie;
    • Group, SYNaPS Study;
    • El-Bassyouni, Hala T;
    • Soliman, Doaa R
    Publication type:
    journal article
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    Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

    Published in:
    Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab183
    By:
    • Maroofian, Reza;
    • Gubas, Andrea;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Hundallah, Khalid;
    • Severino, Mariasavina;
    • Abdel-Hamid, Mohamed S.;
    • Rosenfeld, Jill A.;
    • Ebrahimi-Fakhari, Darius;
    • Ali, Zahir;
    • Rahim, Fazal;
    • Houlden, Henry;
    • Tooze, Sharon A.;
    • Alsaleh, Norah S.;
    • Zaki, Maha S.
    Publication type:
    Article