• 10246 Citations
  • 47 h-Index
1990 …2019
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Research Output 1990 2019

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

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
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

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

Copy number variants in autism spectrum disorders

Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A. & Tartaglia, M., Feb 20 2019, In : Progress in Neuro-Psychopharmacology and Biological Psychiatry. 92, p. 421-427 7 p.

Research output: Contribution to journalReview article

Genomic Structural Variation
Comparative Genomic Hybridization
Human Genome
Single Nucleotide Polymorphism
Autism Spectrum Disorder

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
Dimerization
Transcriptional Activation
Developmental Disabilities
Energy Transfer
Brain
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), 2019, In : Neurobiology of Aging. 77, p. 169-177 9 p.

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

Genetic Association Studies
Neuroblastoma
Phenotype
Liver
Exome

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
Epilepsy
Seizures
Phenotype
Microcephaly
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
Neuroepithelial Neoplasms
DNA Fingerprinting
DNA Methylation
Meningioma
Central Nervous System Neoplasms

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

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

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., May 3 2018, In : Clinical Genetics.

Research output: Contribution to journalReview article

Signal Transduction
Polydactyly
Inborn Genetic Diseases
Congenital Heart Defects
Cilia
2 Citations (Scopus)

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

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Calcagni, G., Adorisio, R., Martinelli, S., Grutter, G., Baban, A., Versacci, P., Digilio, M. C., Drago, F., Gelb, B. D., Tartaglia, M. & Marino, B., Apr 2018, In : Heart Failure Clinics. 14, 2, p. 225-235 11 p.

Research output: Contribution to journalReview article

Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation

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
1 Citation (Scopus)

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

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

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
2 Citations (Scopus)

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

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

Jiskoot, L. C., Bocchetta, M., Nicholas, J. M., Cash, D. M., Thomas, D., Modat, M., Ourselin, S., Rombouts, S. A. R. B., Dopper, E. G. P., Meeter, L. H., Panman, J. L., van Minkelen, R., van der Ende, E. L., Donker Kaat, L., Pijnenburg, Y. A. L., Borroni, B., Galimberti, D., Masellis, M., Tartaglia, M. C., Rowe, J. & 11 others, Graff, C., Tagliavini, F., Frisoni, G. B., Laforce R., J., Finger, E., de Mendonça, A., Sorbi, S., Papma, J. M., van Swieten, J. C., Rohrer, J. D. & (GENFI), T. G. F. D. I., 2018, In : Annals of Clinical and Translational Neurology. 5, 9, p. 1025-1036 12 p.

Research output: Contribution to journalArticle

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