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Research Output 2004 2019

2019

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Feb 11 2019, In : Cerebellum.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia
Nuclear Pore
Exome
Nuclear Envelope

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

Open Access
Phenotype
Jaw
Brain
Zebrafish
SKP Cullin F-Box Protein Ligases

Heme and sensory neuropathy: insights from novel mutations in the heme exporter FLVCR1

Bertino, F., Firestone, K., Bellacchio, E., Jackson, K. E., Asamoah, A., Hersh, J., Fiorito, V., Destefanis, F., Gonser, R., Tucker, M. E., Altruda, F., Tolosano, E. & Chiabrando, D., Aug 10 2019, In : Pain.

Research output: Contribution to journalArticle

Feline Leukemia Virus
Hereditary Sensory and Autonomic Neuropathies
Heme
Mutation
Nociception
Cerebellar Ataxia
Spinocerebellar Degenerations
Spectrin
Ataxia
Spinocerebellar Ataxias
2018
Candidiasis
Pakistan
Regulator Genes
Mutation
Cell Nucleus Active Transport

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B. D., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P. E., Enrico, B., Pronicka, E., Ghezzi, D. & 2 others, Taylor, R. W. & Diodato, D., Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Molecular Biology
Oxidative Phosphorylation
Valine-tRNA Ligase
Epilepsia Partialis Continua

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Kinesin
Microtubules
Spindle Apparatus
Tubulin
Cell Division

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Motta, M., Fidan, M., Bellacchio, E., Pantaleoni, F., Schneider-Heieck, K., Coppola, S., Borck, G., Salviati, L., Zenker, M., Cirstea, I. C. & Tartaglia, M., Nov 27 2018, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Noonan Syndrome
Mutation
Ubiquitination
Proteins
Genes

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Vona, B., Maroofian, R., Bellacchio, E., Najafi, M., Thompson, K., Alahmad, A., He, L., Ahangari, N., Rad, A., Shahrokhzadeh, S., Bahena, P., Mittag, F., Traub, F., Movaffagh, J., Amiri, N., Doosti, M., Boostani, R., Shirzadeh, E., Haaf, T., Diodato, D. & 3 others, Schmidts, M., Taylor, R. W. & Karimiani, E. G., Nov 12 2018, In : BMC Medical Genetics. 19, 1, p. 196 16 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Cataract
Phenotype
Leigh Disease
Exome

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Callea, F., Giovannoni, I., Francalanci, P., Boldrini, R., Faa, G., Medicina, D., Nobili, V., Desmet, V. J., Ishak, K., Seyama, K. & Bellacchio, E., May 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 79 9 p.

Research output: Contribution to journalArticle

alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin
Inclusion Bodies
Isoelectric Focusing
Calcium
Addison Disease
Precocious Puberty
Mutation
Genes
Steroid 11-beta-Hydroxylase

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype

Gentile, M., Agolini, E., Cocciadiferro, D., Ficarella, R., Ponzi, E., Bellacchio, E., Antonucci, M. F. & Novelli, A., Oct 4 2018, In : Clinical Genetics.

Research output: Contribution to journalArticle

Phenotype
Seizures
Congenital Disorders of Glycosylation
Multiple Hereditary Exostoses
Megalencephaly

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

Nicita, F., Tasca, G., Nardella, M., Bellacchio, E., Camponeschi, I., Vasco, G., Schirinzi, T., Bertini, E. & Zanni, G., Aug 2018, In : Cerebellum. 17, 4, p. 499-503 5 p.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Ataxia
Mutation
Inwardly Rectifying Potassium Channel
Deafness

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

Radio, F. C., Di Meglio, L., Agolini, E., Bellacchio, E., Rinelli, M., Toscano, P., Boldrini, R., Novelli, A., Di Meglio, A. & Dallapiccola, B., May 2018, In : Molecular genetics & genomic medicine. 6, 3, p. 446-451 6 p.

Research output: Contribution to journalArticle

Hydranencephaly
Hydrocephalus
Mutation
Heme
Pterygium

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C. E., Carrero, D., Bertola, D., Al-Gazali, L., Alders, M., Altmüller, J., Arboleda, G., Beleggia, F., Bruselles, A., Ciolfi, A., Gillessen-Kaesbach, G., Krieg, T., Mohammed, S., Müller, C., Novelli, A., Ortega, J. & 8 others, Sandoval, A., Velasco, G., Yigit, G., Arboleda, H., Lopez-Otin, C., Wollnik, B., Tartaglia, M. & Hennekam, R. C., Oct 15 2018, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Congenital Generalized Lipodystrophy
Progeria
Exome
RNA Polymerase III
Phenotype

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

Rinelli, M., Bellacchio, E., Berardinelli, F., Pascolini, G., Grammatico, P., Sgura, A., Iori, A. P., Quattrocchi, L., Novelli, A., Majore, S. & Agolini, E., Jul 6 2018, In : Annals of Hematology. 3 p.

Research output: Contribution to journalArticle

2017

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

Callea, M., Eric Willoughby, C., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Mar 2017, In : Investigacion Clinica. 58, 1, p. 70-8 9 p.

Research output: Contribution to journalArticle

Marfan Syndrome
Eye Manifestations
Phenotype
Mutation
Connective Tissue Diseases
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage

Callea, F., Giovannoni, I., Sari, S., Aksu, A. U., Esendagly, G., Dalgic, B., Boldrini, R., Akyol, G., Francalanci, P. & Bellacchio, E., Aug 1 2017, In : Pathology. 49, 5, p. 534-537 4 p.

Research output: Contribution to journalLetter

Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

Callea, M., Cammarata-Scalisi, F., Willoughby, C. E., Giglio, S. R., Sani, D. I., Bargiacchi, S., Traficante, G., Bellacchio, E., Tadini, G., Yavuz, I., Galeotti, A. & Clarich, G., 2017, In : Archivos Argentinos de Pediatria. 115, 1, p. e34-e38

Research output: Contribution to journalArticle

Estudio clínico y molecular en una familia con displasia cleidocraneal

Translated title of the contribution: Clinical and molecular study in a family with cleidocranial dysplasiaCallea, M., Fattori, F., Bertini, E. S., Yavuz, I., Bellacchio, E., Avendaño, A., Araque, D., Lacruz-Rengel, M. A., Da Silva, G. & Cammarata-Scalisi, F., Jan 1 2017, In : Archivos Argentinos de Pediatria. 115, 6, p. e440-e444

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Clavicle
Tooth Abnormalities
Developmental Bone Disease
Inheritance Patterns

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Translated title of the contribution: Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasiaCallea, M., Cammarata-Scalisi, F., Willoughby, C. E., Giglio, S. R., Sani, D. I., Bargiacchi, S., Traficante, G., Bellacchio, E., Tadini, G., Yavuz, I., Galeotti, A. & Clarich, G., Feb 1 2017, In : Archivos Argentinos de Pediatria. 115, 1, p. e34-e38

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 3
Anhidrotic Ectodermal Dysplasia 1
Mutation
Hypotrichosis
Hypohidrosis

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Translated title of the contribution: Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasiaCallea, M., Cammarata-Scalisi, F., Willoughby, C. E., Giglio, S. R., Sani, I., Bargiacchi, S., Traficante, G., Bellacchio, E., Tadini, G., Yavuz, I., Galeotti, A. & Clarich, G., Feb 1 2017, In : Archivos Argentinos de Pediatria. 115, 1, p. e34-e38

Research output: Contribution to journalArticle

Anhidrotic Ectodermal Dysplasia 3
Anhidrotic Ectodermal Dysplasia 1
Mutation
Hypotrichosis
Hypohidrosis

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Agolini, E., Dentici, M. L., Bellacchio, E., Alesi, V., Radio, F. C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M. C. & Novelli, A., Sep 13 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Protein-Arginine N-Methyltransferases
Brachydactyly
Intellectual Disability
Mutation
Arginine

Fibrinogen gamma chain mutations provoke fibrinogen and apolipoprotein B plasma deficiency and liver storage

Callea, F., Giovannoni, I., Sari, S., Gulda, E., Dalgic, B., Akyol, G., Sogo, T., Al-Hussaini, A., Maggiore, G., Bartuli, A., Boldrini, R., Francalanci, P. & Bellacchio, E., Dec 15 2017, In : International Journal of Molecular Sciences. 18, 12, 2717.

Research output: Contribution to journalArticle

Hypobetalipoproteinemia, Familial, Apolipoprotein B
fibrinogen
Apolipoproteins B
mutations
liver

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Dentici, M. L., Barresi, S., Nardella, M., Bellacchio, E., Alfieri, P., Bruselles, A., Pantaleoni, F., Danieli, A., Iarossi, G., Cappa, M., Bertini, E., Tartaglia, M. & Zanni, G., Sep 10 2017, In : Gene. 628, p. 141-145 5 p.

Research output: Contribution to journalArticle

Iris
Missense Mutation
Ataxia
Cerebellar Ataxia
Mutation
Iris
Missense Mutation
Ataxia
Cerebellar Ataxia
Mutation

Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo

Translated title of the contribution: A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotypeCallea, M., Willoughby, C. E., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Jan 1 2017, In : Investigacion Clinica (Venezuela). 58, 1, p. 70-78 9 p.

Research output: Contribution to journalArticle

Marfan Syndrome
Phenotype
Mutation
Eye Manifestations
Genes

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Piano Mortari, E., Folgiero, V., Marcellini, V., Romania, P., Bellacchio, E., D'Alicandro, V., Bocci, C., Carrozzo, R., Martinelli, D., Petrini, S., Axiotis, E., Farroni, C., Locatelli, F., Schara, U., Pilz, D. T., Jungbluth, H., Dionisi-Vici, C. & Carsetti, R., Dec 1 2017, In : Autophagy. p. 1-16 16 p.

Research output: Contribution to journalArticle

Autophagy
Adaptive Immunity
Innate Immunity
Nucleic Acids
B-Lymphocytes

Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex

Cammarata-Scalisi, F., Vidales Moreno, C., Stock, F., Avendaño, A., Araque, D., Lacruz-Rengel, M. A., Diociaiuti, A., Bellacchio, E. & Callea, M., Dec 19 2017, In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

2016

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

Callea, M., Bellacchio, E., Fattori, F., Bertini, E., Callea, F. & Cammarata-Scalisi, F., 2016, In : Leukemia and Lymphoma. 57, 9, p. 2189-2191 3 p.

Research output: Contribution to journalArticle

Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease

A novel INDEL mutation in the EDA gene resulting in a distinct X-linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

Callea, M., Nieminen, P., Willoughby, C. E., Clarich, G., Yavuz, I., Vinciguerra, A., Di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G. & Bellacchio, E., Feb 1 2016, In : Journal of the European Academy of Dermatology and Venereology. 30, 2, p. 341-343 3 p.

Research output: Contribution to journalArticle

A novel INDEL mutation in the EDA gene resulting in a distinct X-linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

Callea, M., Nieminen, P., Willoughby, C. E., Clarich, G., Yavuz, I., Vinciguerra, A., di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G. & Bellacchio, E., Feb 1 2016, In : Journal of the European Academy of Dermatology and Venereology. 30, 2, p. 341-343 3 p.

Research output: Contribution to journalArticle

A novel INDEL mutation in the EDA gene resulting in a distinct X-linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

Callea, M., Nieminen, P., Willoughby, C. E., Clarich, G., Yavuz, I., Vinciguerra, A., di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G. & Bellacchio, E., Feb 1 2016, In : Journal of the European Academy of Dermatology and Venereology. 30, 2, p. 341-343 3 p.

Research output: Contribution to journalArticle

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene

Cammarata-Scalisi, F., Natsuga, K., Toyonaga, E., Nishie, W., Shimizu, H., Avendaño, A., Araque, D., Da Silva, G., Bellacchio, E. & Callea, M., 2016, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene

Cammarata-Scalisi, F., Natsuga, K., Toyonaga, E., Nishie, W., Shimizu, H., Avendaño, A., Araque, D., Da Silva, G., Bellacchio, E. & Callea, M., 2016, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

Missense Mutation
Ataxia
Migraine Disorders
Cerebellar Diseases
Mutation