Works by Scala, Marcello

Results: 63

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Published in:

Epileptic Disorders, 2023, v. 25, n. 6, p. 874, doi. 10.1002/epd2.20141

By:

Boeri, Silvia;
Scala, Marcello;
Madia, Francesca;
Perucco, Francesca;
Vozzi, Diego;
Capra, Valeria;
Zara, Federico;
Nobili, Lino;
Mancardi, Maria Margherita

Publication type:

Article

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

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.

Published in:

Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5

By:

Scala, Marcello;
Zonneveld-Huijssoon, Evelien;
Brienza, Marianna;
Mecarelli, Oriano;
van der Hout, Annemarie H.;
Zambrelli, Elena;
Turner, Katherine;
Zara, Federico;
Peron, Angela;
Vignoli, Aglaia;
Striano, Pasquale

Publication type:

Article

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Published in:

Neurogenetics, 2019, v. 20, n. 3, p. 165, doi. 10.1007/s10048-019-00582-5

By:

Scala, Marcello;
Brigati, Giorgia;
Fiorillo, Chiara;
Nesti, Claudia;
Rubegni, Anna;
Pedemonte, Marina;
Bruno, Claudio;
Severino, Mariasavina;
Derchi, Maria;
Minetti, Carlo;
Santorelli, F. M.

Publication type:

Article

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 8, p. 1003, doi. 10.1002/pd.6596

By:

Biancotto, Giulia;
Rosti, Giulia;
Madia, Francesca;
Capra, Valeria;
Scala, Marcello;
Aleo, Elena;
Paladini, Dario

Publication type:

Article

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Published in:

Human Mutation, 2023, p. 1, doi. 10.1155/2023/3160653

By:

Chelleri, Cristina;
Scala, Marcello;
De Marco, Patrizia;
Guerriero, Vittorio;
Ognibene, Marzia;
Madia, Francesca;
Guerrisi, Sara;
Di Duca, Marco;
Torre, Michele;
Tamburro, Serena;
Scudieri, Paolo;
Piccolo, Gianluca;
Mattioli, Girolamo;
Buffelli, Francesca;
Uva, Paolo;
Vozzi, Diego;
Fulcheri, Ezio;
Striano, Pasquale;
Diana, Maria Cristina;
Zara, Federico

Publication type:

Article

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414

By:

Scala, Marcello;
Drouot, Nathalie;
MacLennan, Suzanna C.;
Wessels, Marja W.;
Krygier, Magdalena;
Pavinato, Lisa;
Telegrafi, Aida;
de Man, Stella A.;
van Slegtenhorst, Marjon;
Iacomino, Michele;
Madia, Francesca;
Scudieri, Paolo;
Uva, Paolo;
Giacomini, Thea;
Nobile, Giulia;
Mancardi, Maria Margherita;
Balagura, Ganna;
Galloni, Giovanni Battista;
Verrotti, Alberto;
Umair, Muhammad

Publication type:

Article

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326

By:

Scala, Marcello;
Wortmann, Saskia B.;
Kaya, Namik;
Stellingwerff, Menno D.;
Pistorio, Angela;
Glamuzina, Emma;
van Karnebeek, Clara D.;
Skrypnyk, Cristina;
Iwanicka‐Pronicka, Katarzyna;
Piekutowska‐Abramczuk, Dorota;
Ciara, Elżbieta;
Tort, Frederic;
Sheidley, Beth;
Poduri, Annapurna;
Jayakar, Parul;
Jayakar, Anuj;
Upadia, Jariya;
Walano, Nicolette;
Haack, Tobias B.;
Prokisch, Holger

Publication type:

Article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015

By:

Carvill, Gemma L.;
Helbig, Katherine L.;
Myers, Candace T.;
Scala, Marcello;
Huether, Robert;
Lewis, Sara;
Kruer, Tyler N.;
Guida, Brandon S.;
Bakhtiari, Somayeh;
Sebe, Joy;
Tang, Sha;
Stickney, Heather;
Oktay, Sehribani Ulusoy;
Bhandiwad, Ashwin A.;
Ramsey, Keri;
Narayanan, Vinodh;
Feyma, Timothy;
Rohena, Luis O.;
Accogli, Andrea;
Severino, Mariasavina

Publication type:

Article

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870

By:

Shaheen, Ranad;
Mark, Paul;
Prevost, Christopher T.;
AlKindi, Adila;
Alhag, Ahmad;
Estwani, Fatima;
Al‐Sheddi, Tarfa;
Alobeid, Eman;
Alenazi, Mona M.;
Ewida, Nour;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Bryant, Emily M.;
Spinelli, Egidio;
Millichap, John;
Barnett, Sarah S.;
Kearney, Hutton M.;
Accogli, Andrea;
Scala, Marcello

Publication type:

Article

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

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Published in:

2019

By:

Scala, Marcello;
Morana, Giovanni;
Sementa, Angela R.;
Merla, Giuseppe;
Piatelli, Gianluca;
Capra, Valeria;
Pavanello, Marco

Publication type:

Case Study

Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome.

Published in:

2021

By:

Fiaschi, Pietro;
Scala, Marcello;
Piatelli, Gianluca;
Tortora, Domenico;
Secci, Francesca;
Cama, Armando;
Pavanello, Marco

Publication type:

Literature Review

Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.

Published in:

Child's Nervous System, 2024, v. 40, n. 6, p. 1731, doi. 10.1007/s00381-024-06304-z

By:

Morello, Alberto;
Scala, Marcello;
Schiavetti, Irene;
Diana, Maria Cristina;
Severino, Mariasavina;
Tortora, Domenico;
Piatelli, Gianluca;
Pavanello, Marco

Publication type:

Article

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

Published in:

Child's Nervous System, 2018, v. 34, n. 7, p. 1311, doi. 10.1007/s00381-018-3833-7

By:

Scala, Marcello;
Capra, Valeria;
Ravegnani, Marcello;
Pavanello, Marco;
Fiaschi, Pietro;
Garrè, Maria Luisa;
Tortora, Domenico

Publication type:

Article

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

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

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

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

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

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

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

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534

By:

Accogli, Andrea;
Scala, Marcello;
Calcagno, Annalisa;
Castello, Raffaele;
Torella, Annalaura;
Musacchia, Francesco;
Allegri, Anna M. E.;
Mancardi, Maria M.;
Maghnie, Mohamad;
Severino, Mariasavina;
Nigro, Vincenzo;
Capra, Valeria

Publication type:

Article

A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593

By:

Scala, Marcello;
Accogli, Andrea;
De Grandis, Elisa;
Allegri, Anna;
Bagowski, Christoph P.;
Shoukier, Moneef;
Maghnie, Mohamad;
Capra, Valeria

Publication type:

Article

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

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323

By:

Scala, Marcello;
Grandis, Elisa De;
Nobile, Giulia;
Iacomino, Michele;
Madia, Francesca;
Capra, Valeria;
Nobili, Lino;
Zara, Federico;
Striano, Pasquale

Publication type:

Article

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

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

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

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

Published in:

2020

By:

Scala, Marcello;
Mojarrad, Majid;
Riazuddin, Saima;
Brigatti, Karlla W;
Ammous, Zineb;
Cohen, Julie S;
Hosny, Heba;
Usmani, Muhammad A;
Shahzad, Mohsin;
Riazuddin, Sheikh;
Stanley, Valentina;
Eslahi, Atiye;
Person, Richard E;
Elbendary, Hasnaa M;
Comi, Anne M;
Poskitt, Laura;
Salpietro, Vincenzo;
Genomics, Queen Square;
Rosenfeld, Jill A;
Williams, Katie B

Publication type:

Letter

‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22.

Published in:

Journal of Genetics, 2019, v. 98, n. 2, p. N.PAG, doi. 10.1007/s12041-019-1107-0

By:

Tassano, Elisa;
Ronchetto, Patrizia;
Calcagno, Annalisa;
Fiorio, Patrizia;
Gimelli, Giorgio;
Capra, Valeria;
Scala, Marcello

Publication type:

Article

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.869002

By:

Scala, Marcello;
Grasso, Eleonora A.;
Di Cara, Giuseppe;
Riva, Antonella;
Striano, Pasquale;
Verrotti, Alberto

Publication type:

Article

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Published in:

Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552

By:

Romano, Ferruccio;
Amadori, Elisabetta;
Madia, Francesca;
Severino, Mariasavina;
Capra, Valeria;
Rizzo, Renata;
Barone, Rita;
Corradi, Beatrice;
Maragliano, Luca;
Shams Nosrati, Mohammad Sadegh;
Falace, Antonio;
Striano, Pasquale;
Zara, Federico;
Scala, Marcello

Publication type:

Article

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome.

Published in:

2025

By:

Dainelli, Alice;
Nosrati, Mohammad Sadegh Shams;
Romano, Ferruccio;
Vercellino, Fabiana;
Mancardi, Maria Margherita;
Torella, Annalaura;
Nigro, Vincenzo;
Capra, Valeria;
Zara, Federico;
Scala, Marcello

Publication type:

Case Study

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1669

By:

Romanisio, Giulia;
Chelleri, Cristina;
Scala, Marcello;
Piccolo, Gianluca;
Carlini, Barbara;
Gatti, Laura;
Capra, Valeria;
Zara, Federico;
Bersano, Anna;
Pavanello, Marco;
De Marco, Patrizia;
Diana, Maria Cristina

Publication type:

Article

Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?

Published in:

Cancers, 2025, v. 17, n. 9, p. 1490, doi. 10.3390/cancers17091490

By:

Santangelo, Andrea;
Chelleri, Cristina;
Tomasino, Marco;
Pasquinucci, Mattia;
Cappozzo, Francesca;
Striano, Pasquale;
Diana, Maria Cristina;
Scala, Marcello

Publication type:

Article

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

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

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 95, doi. 10.1515/jpem-2018-0272

By:

Scala, Marcello;
Accogli, Andrea;
Allegri, Anna Maria Elsa;
Tassano, Elisa;
Severino, Mariasavina;
Morana, Giovanni;
Maghnie, Mohamad;
Capra, Valeria

Publication type:

Article

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

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.

Published in:

Epilepsia Open, 2023, v. 8, n. 4, p. 1314, doi. 10.1002/epi4.12798

By:

Dainelli, Alice;
Iacomino, Michele;
Rossato, Sara;
Bugin, Samuela;
Traverso, Monica;
Severino, Mariasavina;
Gustincich, Stefano;
Capra, Valeria;
Di Duca, Marco;
Zara, Federico;
Scala, Marcello;
Striano, Pasquale

Publication type:

Article

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1430657

By:

Romano, Ferruccio;
De Marco, Patrizia;
Amico, Giulia;
Mallamaci, Marisa;
Pavanello, Marco;
Piatelli, Gianluca;
Scala, Marcello;
Zara, Federico;
Faravelli, Francesca;
Severino, Mariasavina;
Tortora, Domenico;
Pasetti, Francesco;
Castellan, Lucio;
Buratti, Silvia;
Capra, Valeria

Publication type:

Article

The p.R66W Variant in RAC3 Causes Severe Fetopathy Through Variant-Specific Mechanisms.

Published in:

Cells (2073-4409), 2024, v. 13, n. 23, p. 2032, doi. 10.3390/cells13232032

By:

Sugawara, Ryota;
Ito, Hidenori;
Tabata, Hidenori;
Ueda, Hiroshi;
Scala, Marcello;
Nagata, Koh-ichi

Publication type:

Article

V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.

Published in:

Cells (2073-4409), 2024, v. 13, n. 17, p. 1441, doi. 10.3390/cells13171441

By:

Falace, Antonio;
Volpedo, Greta;
Scala, Marcello;
Zara, Federico;
Striano, Pasquale;
Fassio, Anna

Publication type:

Article

Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.

Published in:

Cells (2073-4409), 2021, v. 10, n. 12, p. 3395, doi. 10.3390/cells10123395

By:

Scala, Marcello;
Nishikawa, Masashi;
Nagata, Koh-ichi;
Striano, Pasquale

Publication type:

Article

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

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

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

Published in:

Birth Defects Research, 2025, v. 117, n. 2, p. 1, doi. 10.1002/bdr2.2446

By:

Romano, Ferruccio;
Cerminara, Maria;
De Marco, Patrizia;
Iacomino, Michele;
Di Duca, Marco;
Tortora, Domenico;
Pavanello, Marco;
Piatelli, Gianluca;
Scala, Marcello;
Zara, Federico;
Puliti, Aldamaria;
Capra, Valeria

Publication type:

Article

Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

Published in:

Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113

By:

Romano, Ferruccio;
Madia, Francesca;
De Marco, Patrizia;
Ognibene, Marzia;
Guerrisi, Sara;
Scala, Marcello;
Iacomino, Michele;
Baldassari, Simona;
Vercellino, Nadia;
Manunza, Francesca;
Tallone, Ramona;
Pavanello, Marco;
Piatelli, Gianluca;
Garaventa, Alberto;
Zara, Federico;
Capra, Valeria

Publication type:

Article

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.

Published in:

Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058

By:

Romano, Ferruccio;
Falco, Mariateresa;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Lonardo, Fortunato;
Torella, Annalaura;
Digilio, Maria Cristina;
Dentici, Maria Lisa;
Alfieri, Paolo;
Agolini, Emanuele;
Novelli, Antonio;
Garavelli, Livia;
Accogli, Andrea;
Striano, Pasquale;
Scarano, Gioacchino;
Nigro, Vincenzo;
Scala, Marcello;
Capra, Valeria

Publication type:

Article