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Research Output 2012 2019

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 : The Journal of experimental medicine. 216, 12, p. 2778-2799 22 p.

Research output: Contribution to journalArticle

Open Access
Hemophagocytic Lymphohistiocytosis
Inflammation
Mutation
Survival
Exanthema
Hypoventilation
Hypothalamus
Obesity
Antibodies
Cerebrospinal Fluid
Dimerization
Transcriptional Activation
Developmental Disabilities
Energy Transfer
Brain
Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

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

Genetic Association Studies
Neuroblastoma
Phenotype
Liver
Exome
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

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia
2017
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides

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

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia

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

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia

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

Exome
Myelin Sheath
Neuroimaging
Mutation
Nonsense Codon

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

Haploinsufficiency
Mutation
Exome
Polydactyly
Phenotype
Mutation
Intellectual Disability
Exome
Microcephaly
Spectrum Analysis

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

Fibronectins
Mutation
Scoliosis
Mutant Proteins
Coxa Vara

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

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy

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

Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy
Mosaicism
Collagen
Mutation
Muscular Diseases
Phenotype
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

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

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

Sideroblastic Anemia
Lactic Acidosis
Phenotype
Mutation
Cardiomyopathies

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

Brain Diseases
Tubulin
Microtubules
Mutation
Polymerization

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

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

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

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

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

Oxidative Stress
Biological Phenomena
Spinal Muscular Atrophy
Mutation
Parkinsonian Disorders

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

Glycerolphosphate Dehydrogenase
Hypertriglyceridemia
Hepatomegaly
Mutation
Liver

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

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

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

Leukoencephalopathies
Mutation
Electron Transport Complex III
Magnetic Resonance Imaging
Brain Diseases

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

Microcephaly
Tubulin
Seizures
Microtubules
Atrophy

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

Inositol 1,4,5-Trisphosphate Receptors
Ataxia
Mutation
Exome
Muscle Hypotonia

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

Phenotype
Mutation
Glycine Decarboxylase Complex H-Protein
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Ketoglutarate Dehydrogenase Complex

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

Spinal Muscular Atrophy
Brain Diseases
Tubulin
Microtubules
Fibroblasts
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

Deafness
Down Syndrome
Intellectual Disability
Cataract
Seizures
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

Congenital Structural Myopathies
Mutation
Muscle Weakness
Slow-Twitch Muscle Fibers
Exome
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

Tumor Suppressor Genes
Gastrointestinal Neoplasms
Mutation
Exome
Bone Morphogenetic Proteins