20122019

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2019

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M. & 30 others, Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Rosti, V., Bracaglia, C., Palma, P., Finocchi, A., Locatelli, F., Cancrini, C., Aiuti, A., De Benedetti, F. & Tartaglia, M., Dec 2 2019, In : Journal of Experimental Medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M. & 30 others, Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Rosti, V., Bracaglia, C., Palma, P., Finocchi, A., Locatelli, F., Cancrini, C., Aiuti, A., De Benedetti, F. & Tartaglia, M., Dec 2 2019, In : The Journal of experimental medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

Open Access

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

Guarnotta, V., Niceta, M., Bono, M., Marchese, S., Fabiano, C., Indelicato, S., Di Gaudio, F., Garofalo, P. & Giordano, C., Dec 2 2019, In : Journal of Steroid Biochemistry and Molecular Biology. 198, p. 105554

Research output: Contribution to journalArticle

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

Carli, D., Giorgio, E., Pantaleoni, F., Bruselles, A., Barresi, S., Riberi, E., Licciardi, F., Gazzin, A., Baldassarre, G., Pizzi, S., Niceta, M., Radio, F. C., Molinatto, C., Montin, D., Calvo, P. L., Ciolfi, A., Fleischer, N., Ferrero, G. B., Brusco, A. & Tartaglia, M., Mar 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Skeletal abnormalities are common features in Aymé-Gripp syndrome

Niceta, M., Barbuti, D., Gupta, N., Ruggiero, C., Tizzano, E. F., Graul-Neumann, L., Barresi, S., Nishimura, G., Valenzuela, I., López-Grondona, F., Fernandez-Alvarez, P., Leoni, C., Zweier, C., Tzschach, A., Stellacci, E., Del Fattore, A., Dallapiccola, B., Zampino, G. & Tartaglia, M., 2019, In : Clinical Genetics. 97, 2, p. 362-369 8 p.

Research output: Contribution to journalArticle

2018

A Child with Diminished Linear Growth and Waddling Gait

Tamaro, G., Pederiva, F., Dibello, D., Gregori, M., Carbone, M., Pantaleoni, F., Dentici, M. L., Niceta, M. & Barbi, E., Oct 2018, In : Journal of Pediatrics. 201, p. 297-297.e1

Research output: Contribution to journalArticle

A Child with Diminished Linear Growth and Waddling Gait

Tamaro, G., Pederiva, F., Dibello, D., Gregori, M., Carbone, M., Pantaleoni, F., Dentici, M. L., Niceta, M. & Barbi, E., Oct 1 2018, In : Journal of Pediatrics. 201, p. 297-297.e1

Research output: Contribution to journalArticle

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, I., Aiello, C., Simons, C., Stone, R. T., Niceta, M., Elmaleh, M., Abuawad, M., Doummar, D., Bruselles, A., Wolf, N. I., Travaglini, L., Boespflug-Tanguy, O., Tartaglia, M., Vanderver, A., Rodriguez, D. & Bertini, E., Jan 1 2017, In : Brain. 140, 10, p. 2550-2556 7 p.

Research output: Contribution to journalArticle

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M. & Digilio, M. C., Apr 25 2017, In : Clinical Genetics. 93, 2, p. 401-407 7 p.

Research output: Contribution to journalArticle

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Baylor-Hopkins Center for Mendelian Genomics, Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 815-823 9 p.

Research output: Contribution to journalArticle

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 89

Research output: Contribution to journalArticle

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

2016

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi-Vici, C., Christodoulou, J. & 2 others, Bertini, E. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Diodato, D., Di Nottia, M., Lucarelli, B., Sorrentino, F., Piemonte, F., Francisci, S., Tartaglia, M., Valente, E. M., Dionisi Vici, C., Christodoulou, J. & 2 others, Bertini, E. S. & Carrozzo, R., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Flex, E., Niceta, M., Cecchetti, S., Thiffault, I., Au, M. G., Capuano, A., Piermarini, E., Ivanova, A. A., Francis, J. W., Chillemi, G., Chandramouli, B., Carpentieri, G., Haaxma, C. A., Ciolfi, A., Pizzi, S., Douglas, G. V., Levine, K., Sferra, A., Dentici, M. L., Pfundt, R. R. & 11 others, Le Pichon, J. B., Farrow, E., Baas, F., Piemonte, F., Dallapiccola, B., Graham, J. M., Saunders, C. J., Bertini, E., Kahn, R. A., Koolen, D. A. & Tartaglia, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 962-973 12 p.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M. L. E., Santoro, M., Bentivoglio, A., Bertini, E. S., Piemonte, F., Carrozzo, R. & Silvestri, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A. R., Bertini, E., Piemonte, F., Carrozzo, R. & Silvestri, G., Oct 6 2016, In : Clinical Genetics.

Research output: Contribution to journalArticle

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency

Dionisi-Vici, C., Shteyer, E., Niceta, M., Rizzo, C., Pode-Shakked, B., Chillemi, G., Bruselles, A., Semeraro, M., Barel, O., Eyal, E., Kol, N., Haberman, Y., Lahad, A., Diomedi-Camassei, F., Marek-Yagel, D., Rechavi, G., Tartaglia, M. & Anikster, Y., Jul 1 2016, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-7 7 p.

Research output: Contribution to journalArticle

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E. S., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., Van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 others, Kurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., Van Der Knaap, M. S. & Bertini, E., Mar 1 2016, In : Brain. 139, 3, p. 782-794 13 p.

Research output: Contribution to journalArticle

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: Further delineation of a new chaperone-mediated tubulinopathy

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., Carvalho, K. S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben-Zeev, B., Bar-Yosef, O., Marek-Yagel, D., Bertini, E., Duker, A. L., Anikster, Y., Tartaglia, M. & Raas-Rothschild, A., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Barresi, S., Niceta, M., Alfieri, P., Brankovich, V., Piccini, G., Bruselles, A., Barone, M. R., Cusmai, R., Tartaglia, M., Bertini, E. & Zanni, G., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Torraco, A., Ardissone, A., Invernizzi, F., Rizza, T., Fiermonte, G., Niceta, M., Zanetti, N., Martinelli, D., Vozza, A., Verrigni, D., Di Nottia, M., Lamantea, E., Diodato, D., Tartaglia, M., Dionisi-Vici, C., Moroni, I., Farina, L., Bertini, E., Ghezzi, D. & Carrozzo, R., Oct 26 2016, (Accepted/In press) In : Journal of Neurology. p. 1-10 10 p.

Research output: Contribution to journalArticle

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Sferra, A., Baillat, G., Rizza, T., Barresi, S., Flex, E., Tasca, G., D'Amico, A., Bellacchio, E., Ciolfi, A., Caputo, V., Cecchetti, S., Torella, A., Zanni, G., Diodato, D., Piermarini, E., Niceta, M., Coppola, A., Tedeschi, E., Martinelli, D., Dionisi-Vici, C. & 6 others, Nigro, V., Dallapiccola, B., Compagnucci, C., Tartaglia, M., Haase, G. & Bertini, E., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 974-983 10 p.

Research output: Contribution to journalArticle

2015

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., Prudente, S., Fiorenza, M. T., Boitani, C., Philip, N., Niyazov, D., Leoni, C., Nakane, T., Keppler-Noreuil, K. & 11 others, Braddock, S. R., Gillessen-Kaesbach, G., Palleschi, A., Campeau, P. M., Lee, B. H. L., Pouponnot, C., Stella, L., Bocchinfuso, G., Katsanis, N., Sol-Church, K. & Tartaglia, M., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 816-825 10 p.

Research output: Contribution to journalArticle

2014

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A. & Bertini, E., 2014, In : Journal of Neurology. 261, 5, p. 870-876 7 p.

Research output: Contribution to journalArticle

2012

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies myhre syndrome

Caputo, V., Cianetti, L., Niceta, M., Carta, C., Ciolfi, A., Bocchinfuso, G., Carrani, E., Dentici, M. L., Biamino, E., Belligni, E., Garavelli, L., Boccone, L., Melis, D., Andria, G., Gelb, B. D., Stella, L., Silengo, M., Dallapiccola, B. & Tartaglia, M., Jan 13 2012, In : American Journal of Human Genetics. 90, 1, p. 161-169 9 p.

Research output: Contribution to journalArticle