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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Published in:
2017
By:
- Romaniello, Romina;
- Arrigoni, Filippo;
- Panzeri, Elena;
- Poretti, Andrea;
- Micalizzi, Alessia;
- Citterio, Andrea;
- Bedeschi, Maria;
- Berardinelli, Angela;
- Cusmai, Raffaella;
- D'Arrigo, Stefano;
- Ferraris, Alessandro;
- Hackenberg, Annette;
- Kuechler, Alma;
- Mancardi, Margherita;
- Nuovo, Sara;
- Oehl-Jaschkowitz, Barbara;
- Rossi, Andrea;
- Signorini, Sabrina;
- Tüttelmann, Frank;
- Wahl, Dagmar
Publication type:
journal article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Published in:
2017
By:
- Romaniello, Romina;
- Arrigoni, Filippo;
- Panzeri, Elena;
- Poretti, Andrea;
- Micalizzi, Alessia;
- Citterio, Andrea;
- Bedeschi, Maria;
- Berardinelli, Angela;
- Cusmai, Raffaella;
- D'Arrigo, Stefano;
- Ferraris, Alessandro;
- Hackenberg, Annette;
- Kuechler, Alma;
- Mancardi, Margherita;
- Nuovo, Sara;
- Oehl-Jaschkowitz, Barbara;
- Rossi, Andrea;
- Signorini, Sabrina;
- Tüttelmann, Frank;
- Wahl, Dagmar
Publication type:
journal article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
By:
- Romani, Marta;
- Micalizzi, Alessia;
- Kraoua, Ichraf;
- Dotti, Maria Teresa;
- Cavallin, Mara;
- Sztriha, László;
- Ruta, Rosario;
- Mancini, Francesca;
- Mazza, Tommaso;
- Castellana, Stefano;
- Hanene, Benrhouma;
- Carluccio, Maria Alessandra;
- Darra, Francesca;
- Máté, Adrienn;
- Zimmermann, Alíz;
- Gouider-Khouja, Neziha;
- Valente, Enza Maria
Publication type:
Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Published in:
2014
By:
- Romani, Marta;
- Micalizzi, Alessia;
- Kraoua, Ichraf;
- Dotti, Maria Teresa;
- Cavallin, Mara;
- Sztriha, László;
- Ruta, Rosario;
- Mancini, Francesca;
- Mazza, Tommaso;
- Castellana, Stefano;
- Hanene, Benrhouma;
- Carluccio, Maria Alessandra;
- Darra, Francesca;
- Máté, Adrienn;
- Zimmermann, Alíz;
- Gouider-Khouja, Neziha;
- Valente, Enza Maria
Publication type:
Case Study
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Published in:
2022
By:
- Bainbridge, Matthew N;
- Mazumder, Aloran;
- Ogasawara, Daisuke;
- Jamra, Rami Abou;
- Bernard, Geneviève;
- Bertini, Enrico;
- Burglen, Lydie;
- Cope, Heidi;
- Crawford, Ali;
- Derksen, Alexa;
- Dure, Leon;
- Gantz, Emily;
- Koch-Hogrebe, Margarete;
- Hurst, Anna C E;
- Mahida, Sonal;
- Marshall, Paige;
- Micalizzi, Alessia;
- Novelli, Antonio;
- Peng, Hongfan;
- Medicine, Rady Children's Institute for Genomic
Publication type:
journal article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Published in:
2019
By:
- Mori, Roberta De;
- Severino, Mariasavina;
- Mancardi, Maria Margherita;
- Anello, Danila;
- Tardivo, Silvia;
- Biagini, Tommaso;
- Capra, Valeria;
- Casella, Antonella;
- Cereda, Cristina;
- Copeland, Brett R;
- Gagliardi, Stella;
- Gamucci, Alessandra;
- Ginevrino, Monia;
- Illi, Barbara;
- Lorefice, Elisa;
- Musaev, Damir;
- Stanley, Valentina;
- Micalizzi, Alessia;
- Gleeson, Joseph G;
- Mazza, Tommaso
Publication type:
journal article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Published in:
Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
By:
- Nuovo, Sara;
- Fuiano, Laura;
- Micalizzi, Alessia;
- Battini, Roberta;
- Bertini, Enrico;
- Borgatti, Renato;
- Caridi, Gianluca;
- D'Arrigo, Stefano;
- Fazzi, Elisa;
- Fischetto, Rita;
- Ghiggeri, Gian Marco;
- Giordano, Lucio;
- Leuzzi, Vincenzo;
- Romaniello, Romina;
- Signorini, Sabrina;
- Stringini, Gilda;
- Zanni, Ginevra;
- Romani, Marta;
- Valente, Enza Maria;
- Emma, Francesco
Publication type:
Article
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Published in:
Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3
By:
- Romani, Marta;
- Mancini, Francesca;
- Micalizzi, Alessia;
- Poretti, Andrea;
- Miccinilli, Elide;
- Accorsi, Patrizia;
- Avola, Emanuela;
- Bertini, Enrico;
- Borgatti, Renato;
- Romaniello, Romina;
- Ceylaner, Serdar;
- Coppola, Giangennaro;
- D'Arrigo, Stefano;
- Giordano, Lucio;
- Janecke, Andreas;
- Lituania, Mario;
- Ludwig, Kathrin;
- Martorell, Loreto;
- Mazza, Tommaso;
- Odent, Sylvie
Publication type:
Article
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Published in:
Molecular Biology Reports, 2020, v. 47, n. 1, p. 711, doi. 10.1007/s11033-019-05109-7
By:
- Ginevrino, Monia;
- Battini, Roberta;
- Nuovo, Sara;
- Simonati, Alessandro;
- Micalizzi, Alessia;
- Contaldo, Ilaria;
- Serpieri, Valentina;
- Valente, Enza Maria
Publication type:
Article
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
By:
- Flex, Elisabetta;
- Albadri, Shahad;
- Radio, Francesca Clementina;
- Cecchetti, Serena;
- Lauri, Antonella;
- Priolo, Manuela;
- Kissopoulos, Marta;
- Carpentieri, Giovanna;
- Fasano, Giulia;
- Venditti, Martina;
- Magliocca, Valentina;
- Bellacchio, Emanuele;
- Welch, Carrie L;
- Colombo, Paolo C;
- Kochav, Stephanie M;
- Chang, Richard;
- Barrick, Rebekah;
- Trivisano, Marina;
- Micalizzi, Alessia;
- Borghi, Rossella
Publication type:
Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Published in:
Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
By:
- Sinibaldi, Lorenzo;
- Garone, Giacomo;
- Mandarino, Alessandra;
- Iarossi, Giancarlo;
- Chioma, Laura;
- Dentici, Maria Lisa;
- Merla, Giuseppe;
- Agolini, Emanuele;
- Micalizzi, Alessia;
- Mancini, Cecilia;
- Niceta, Marcello;
- Macchiaiolo, Marina;
- Diodato, Daria;
- Onesimo, Roberta;
- Blandino, Rita;
- Delogu, Angelica Bibiana;
- De Rosa, Gabriella;
- Trevisan, Valentina;
- Iademarco, Mariella;
- Zampino, Giuseppe
Publication type:
Article
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1417873
By:
- Bersani, Iliana;
- Ronci, Sara;
- Savarese, Immacolata;
- Piersigilli, Fiammetta;
- Micalizzi, Alessia;
- Maddaloni, Chiara;
- Dotta, Andrea;
- Braguglia, Annabella;
- Longo, Daniela;
- Campi, Francesca
Publication type:
Article
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1417873
By:
- Bersani, Iliana;
- Ronci, Sara;
- Savarese, Immacolata;
- Piersigilli, Fiammetta;
- Micalizzi, Alessia;
- Maddaloni, Chiara;
- Dotta, Andrea;
- Braguglia, Annabella;
- Longo, Daniela;
- Campi, Francesca
Publication type:
Article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Published in:
Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
By:
- Calcagni, Giulio;
- Ferrigno, Federica;
- Franceschini, Alessio;
- Dentici, Maria Lisa;
- Capolino, Rossella;
- Sinibaldi, Lorenzo;
- Minotti, Chiara;
- Micalizzi, Alessia;
- Alesi, Viola;
- Novelli, Antonio;
- Baban, Anwar;
- Parlapiano, Giovanni;
- Coviello, Domenico;
- Versacci, Paolo;
- Putotto, Carolina;
- Chinali, Marcello;
- Drago, Fabrizio;
- Bartuli, Andrea;
- Marino, Bruno;
- Digilio, Maria Cristina
Publication type:
Article
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.
Published in:
Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
By:
- Nuovo, Sara;
- Baglioni, Valentina;
- De Mori, Roberta;
- Tardivo, Silvia;
- Caputi, Caterina;
- Ginevrino, Monia;
- Micalizzi, Alessia;
- Masuelli, Laura;
- Federici, Giulia;
- Casella, Antonella;
- Lorefice, Elisa;
- Anello, Danila;
- Tolve, Manuela;
- Farini, Donatella;
- Bertini, Enrico;
- Zanni, Ginevra;
- Travaglini, Lorena;
- Vasco, Gessica;
- Sette, Claudio;
- Carducci, Carla
Publication type:
Article
A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
By:
- Thomas, Sophie;
- Wright, Kevin J.;
- Corre, Stéphanie Le;
- Micalizzi, Alessia;
- Romani, Marta;
- Abhyankar, Avinash;
- Saada, Julien;
- Perrault, Isabelle;
- Amiel, Jeanne;
- Litzler, Julie;
- Filhol, Emilie;
- Elkhartoufi, Nadia;
- Kwong, Mandy;
- Casanova, Jean‐Laurent;
- Boddaert, Nathalie;
- Baehr, Wolfgang;
- Lyonnet, Stanislas;
- Munnich, Arnold;
- Burglen, Lydie;
- Chassaing, Nicolas
Publication type:
Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Published in:
Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
By:
- Contrò, Gianluca;
- Micalizzi, Alessia;
- Giangiobbe, Sara;
- Caraffi, Stefano Giuseppe;
- Zuntini, Roberta;
- Rosato, Simonetta;
- Pollazzon, Marzia;
- Terracciano, Alessandra;
- Napoli, Manuela;
- Rizzi, Susanna;
- Salerno, Grazia Gabriella;
- Radio, Francesca Clementina;
- Niceta, Marcello;
- Parrini, Elena;
- Fusco, Carlo;
- Gargano, Giancarlo;
- Guerrini, Renzo;
- Tartaglia, Marco;
- Novelli, Antonio;
- Zuffardi, Orsetta
Publication type:
Article
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.
Published in:
2016
By:
- Mormina, Enricomaria;
- Briguglio, Marilena;
- Morabito, Rosa;
- Arrigo, Alessandro;
- Marino, Silvia;
- Di Rosa, Gabriella;
- Micalizzi, Alessia;
- Valente, Enza;
- Salpietro, Vincenzo;
- Vinci, Sergio;
- Longo, Marcello;
- Granata, Francesca;
- Valente, Enza Maria;
- Vinci, Sergio Lucio
Publication type:
journal article
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
Published in:
Neurogenetics, 2016, v. 17, n. 3, p. 191, doi. 10.1007/s10048-016-0488-y
By:
- Micalizzi, Alessia;
- Moroni, Isabella;
- Ginevrino, Monia;
- Biagini, Tommaso;
- Mazza, Tommaso;
- Romani, Marta;
- Valente, Enza
Publication type:
Article

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