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Research Output 1990 2019

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2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Premature Aging
Cell Aging
Histones
Chromatin
DNA Packaging

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Noonan Syndrome
Hypertrophic Cardiomyopathy
Mutation
Phosphatidylinositol 3-Kinases
Codon

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Mutation
Genes
Nucleotides
Exome

A new bioavailable fenretinide formulation with antiproliferative, antimetabolic, and cytotoxic effects on solid tumors

Orienti, I., Francescangeli, F., De Angelis, M. L., Fecchi, K., Bongiorno-Borbone, L., Signore, M., Peschiaroli, A., Boe, A., Bruselles, A., Costantino, A., Eramo, A., Salvati, V., Sette, G., Contavalli, P., Zolla, L., Oki, T., Kitamura, T., Spada, M., Giuliani, A., Baiocchi, M. & 5 others, La Torre, F., Melino, G., Tartaglia, M., De Maria, R. & Zeuner, A., Jul 23 2019, In : Cell death & disease. 10, 7, p. 529

Research output: Contribution to journalArticle

Fenretinide
Biological Availability
Neoplasms
Biological Phenomena
Lipids

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

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

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

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: A GENFI study

GENetic Frontotemporal dementia Initiative (GENFI) , 2019, In : Brain. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Mitogen-Activated Protein Kinases
Mutation
Noonan Syndrome
Mutant Proteins

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
Exome
Cost-Benefit Analysis
diagnostic
costs
Sick Role

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
Dimerization
Transcriptional Activation
Developmental Disabilities
Energy Transfer
Brain

Education modulates brain maintenance in presymptomatic frontotemporal dementia

Genetic FTD Initiative, GENFI, Gazzina, S., Grassi, M., Premi, E., Cosseddu, M., Alberici, A., Archetti, S., Gasparotti, R., Van Swieten, J., Galimberti, D., Sanchez-Valle, R., Laforce, R. J., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J. B., Vandenberghe, R., Finger, E. & 14 others, Tagliavini, F., De Mendonça, A., Santana, I., Butler, C. R., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Sorbi, S., Padovani, A., Rohrer, J. D. & Borroni, B., 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1124-1130 7 p.

Research output: Contribution to journalArticle

Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), Rittman, T., Borchert, R., Jones, S., van Swieten, J., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce R., J., Finger, E., Mendonça, A., Sorbi, S., Rohrer, J. D. & Rowe, J. B., 2019, In : Neurobiology of Aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Assunto, A., Ferrara, U., De Luca, A., Pivonello, C., Lombardo, L., Piscitelli, A., Tortora, C., Pinna, V., Daniele, P., Pivonello, R., Russo, M. G., Limongelli, G., Colao, A., Tartaglia, M., Strisciuglio, P. & Melis, D., Nov 15 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 261.

Research output: Contribution to journalArticle

Neurofibromatosis 1
Protein Isoforms
Messenger RNA
RNA Isoforms
Phenotype

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

No metagenomic evidence of tumorigenic viruses in cancers from a selected cohort of immunosuppressed subjects

Passaro, N., Casagrande, A., Chiara, M., Fosso, B., Manzari, C., D’Erchia, A. M., Iesari, S., Pisani, F., Famulari, A., Tulissi, P., Mastrosimone, S., Maresca, M. C., Mercante, G., Spriano, G., Corrado, G., Vizza, E., Garbuglia, A. R., Capobianchi, M. R., Mottini, C., Cenci, A. & 4 others, Tartaglia, M., Costa, A. N., Pesole, G. & Crescenzi, M., Dec 24 2019, In : Scientific Reports. 9, 1, p. 1-8 8 p., 19815.

Research output: Contribution to journalArticle

Open Access
Metagenomics
Viruses
Computational Biology
Metagenome
Neoplasms

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

Grassi, L., Alfonsi, R., Francescangeli, F., Signore, M., De Angelis, M. L., Addario, A., Costantini, M., Flex, E., Ciolfi, A., Pizzi, S., Bruselles, A., Pallocca, M., Simone, G., Haoui, M., Falchi, M., Milella, M., Sentinelli, S., Di Matteo, P., Stellacci, E., Gallucci, M. & 4 others, Muto, G., Tartaglia, M., De Maria, R. & Bonci, D., Feb 27 2019, In : Cell death & disease. 10, 3, p. 201

Research output: Contribution to journalArticle

Organoids
Regenerative Medicine
Kidney
Kidney Neoplasms
Neoplasms

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

Leoni, C., Triumbari, E. K. A., Vollono, C., Onesimo, R., Podagrosi, M., Giorgio, V., Kuczynska, E., Veltri, S., Tartaglia, M. & Zampino, G., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 940-947 8 p.

Research output: Contribution to journalArticle

Pain
Chronic Pain
Acute Pain
Costello Syndrome
Noonan Syndrome
LEOPARD Syndrome
Hypertrophic Cardiomyopathy
Noonan Syndrome
Pediatrics
Mutation

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Open Access
Neurofibromatosis 1
Pulmonary Valve Stenosis
Heart Diseases
Mutation
Odds Ratio
Neuroepithelial Neoplasms
DNA Fingerprinting
DNA Methylation
Meningioma
Central Nervous System Neoplasms
STAT1 Transcription Factor
Phenotype
Mutation
Chronic Mucocutaneous Candidiasis
Exome

The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint

Premi, E., Calhoun, V. D., Diano, M., Gazzina, S., Cosseddu, M., Alberici, A., Archetti, S., Paternicò, D., Gasparotti, R., van Swieten, J., Galimberti, D., Sanchez-Valle, R., Laforce R., J., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J., Vandenberghe, R. & 17 others, Finger, E., Tagliavini, F., de Mendonça, A., Santana, I., Butler, C., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Cappa, S., Sorbi, S., Padovani, A., Rohrer, J. D., Borroni, B. & Genetic FTD Initiative, GENFI., 2019, In : NeuroImage. 189, p. 645-654 10 p.

Research output: Contribution to journalArticle

Ventricular volume expansion in presymptomatic genetic frontotemporal dementia

Genetic FTD Initiative, GENFI, Tavares, T. P., Mitchell, D. G. V., Coleman, K., Shoesmith, C., Bartha, R., Cash, D. M., Moore, K. M., van Swieten, J., Borroni, B., Galimberti, D., Tartaglia, M. C., Rowe, J., Graff, C., Tagliavini, F., Frisoni, G., Cappa, S., Laforce R., J., de Mendonça, A., Sorbi, S. & 4 others, Wallstrom, G., Masellis, M., Rohrer, J. D. & Finger, E. C., 2019, In : Neurology. 93, 18, p. e1699-e1706

Research output: Contribution to journalArticle

2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 61 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L., Rogaeva, E. & International FTD-Genomics Consortium (IFGC), 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

Age of Onset
DNA Methylation
HLA-DRB1 Chains
Alleles
Single Nucleotide Polymorphism

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Grant, A. R., Cushman, B. J., Cavé, H., Dillon, M. W., Gelb, B. D., Gripp, K. W., Lee, J. A., Mason-Suares, H., Rauen, K. A., Tartaglia, M., Vincent, L. M. & Zenker, M., Nov 2018, In : Human Mutation. 39, 11, p. 1485-1493 9 p.

Research output: Contribution to journalArticle

Genes
Costello Syndrome
LEOPARD Syndrome
Noonan Syndrome
Research Personnel

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

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

Research output: Contribution to journalArticle

Cerebellum
Exome
Autophagy
Zebrafish
Neurodegenerative Diseases

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M. & Rauch, A., Jul 2018, In : Human Mutation. 39, 7, p. 959-964 6 p.

Research output: Contribution to journalArticle

Zinc Fingers
Mutation
Megalencephaly
Amino Acid Substitution
Protein C

Colorectal cancer spheroid biobanks: multi-level approaches to drug sensitivity studies

De Angelis, M. L., Bruselles, A., Francescangeli, F., Pucilli, F., Vitale, S., Zeuner, A., Tartaglia, M. & Baiocchi, M., Dec 2018, In : Cell Biology and Toxicology. 34, 6, p. 459-469 11 p.

Research output: Contribution to journalArticle

Epidermal Growth Factor Receptor
Colorectal Neoplasms
Stem cells
Neoplastic Stem Cells
Pharmaceutical Preparations

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

Distinct neuroanatomical correlates of neuropsychiatric symptoms in the three main forms of genetic frontotemporal dementia in the GENFI Cohort

Sellami, L., Bocchetta, M., Masellis, M., Cash, D. M., Dick, K. M., Van Swieten, J., Borroni, B., Galimberti, D., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G., Finger, E., De Mendonça, A., Sorbi, S., Warren, J. D., Rohrer, J. D. & Laforce R., J., 2018, In : Journal of Alzheimer's Disease. 65, 1, p. 147-163 17 p.

Research output: Contribution to journalArticle

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 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

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins
Rubinstein-Taybi Syndrome
Phenotype
Mutation
Nose
Exome

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 1 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Bauer, C. K., Calligari, P., Radio, F. C., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Claps Sepulveda, D. J., Pro, S., Battini, R., Zampino, G., Digilio, M. C. & 4 others, Bocchinfuso, G., Dallapiccola, B., Stella, L. & Tartaglia, M., Oct 4 2018, In : American Journal of Human Genetics. 103, 4, p. 621-630 10 p.

Research output: Contribution to journalArticle

Arachidonic Acid
Mutation
Gingival Overgrowth
Missense Mutation
Molecular Dynamics Simulation
Mutation
Motor Skills
Linguistics
Kabuki syndrome
Patient Selection

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism

Manti, F., Nardecchia, F., Barresi, S., Venditti, M., Pizzi, S., Hamdan, F. F., Blau, N., Burlina, A., Tartaglia, M. & Leuzzi, V., Oct 11 2018, In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

Clathrin
Biogenic Amines
Parkinsonian Disorders
Intellectual Disability
Neurotransmitter Agents

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Cash, D. M., Bocchetta, M., Thomas, D. L., Dick, K. M., van Swieten, J. C., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. B., Graff, C., Tagliavini, F., Frisoni, G. B., Laforce R., J., Finger, E., de Mendonça, A., Sorbi, S., Rossor, M. N., Ourselin, S. & Rohrer, J. D., 2018, In : Neurobiology of Aging. 62, p. 191-196 6 p.

Research output: Contribution to journalArticle