1988 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2020

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

Accogli, A., Severino, M., Riva, A., Madia, F., Balagura, G., Iacomino, M., Carlini, B., Baldassari, S., Giacomini, T., Croci, C., Pisciotta, L., Messana, T., Boni, A., Russo, A., Bilo, L., Tonziello, R., Coppola, A., Filla, A., Mecarelli, O., Casalone, R. & 19 others, Pisani, F., Falsaperla, R., Marino, S., Parisi, P., Ferretti, A., Elia, M., Luchetti, A., Milani, D., Vanadia, F., Silvestri, L., Rebessi, E., Parente, E., Vatti, G., Mancardi, M. M., Nobili, L., Capra, V., Salpietro, V., Striano, P. & Zara, F., Aug 2020, In : Seizure. 80, p. 145-152 8 p.

Research output: Contribution to journalArticle

2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., 2019, In : European Journal of Paediatric Neurology. 23, 4, p. 657-661 5 p.

Research output: Contribution to journalArticle

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, (10), p. 2965-78

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142 , (10), p. 2965-78 14 p.

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

Shaheen, R., Mark, P., Prevost, C. T., AlKindi, A., Alhag, A., Estwani, F., Al-Sheddi, T., Alobeid, E., Alenazi, M. M., Ewida, N., Ibrahim, N., Hashem, M., Abdulwahab, F., Bryant, E. M., Spinelli, E., Millichap, J., Barnett, S. S., Kearney, H. M., Accogli, A., Scala, M. & 4 others, Capra, V., Nigro, V., Fu, D. & Alkuraya, F. S., Nov 2019, In : Human Mutation. 40, 11, p. 2108-2120 13 p.

Research output: Contribution to journalArticle

Chiari malformation type I: what information from the genetics?

Capra, V., Iacomino, M., Accogli, A., Pavanello, M., Zara, F., Cama, A. & De Marco, P., Oct 2019, In : Child's Nervous System. 35, 10, p. 1665-1671 7 p.

Research output: Contribution to journalArticle

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

Accogli, A., Scala, M., Calcagno, A., Napoli, F., Di Iorgi, N., Arrigo, S., Mancardi, M. M., Prato, G., Pisciotta, L., Nagel, M., Severino, M. & Capra, V., Mar 2019, In : European Journal of Medical Genetics. 62, 3, p. 198-203 6 p.

Research output: Contribution to journalArticle

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

Uccella, S., Accogli, A., Tortora, D., Mancardi, M. M., Nobili, L., Berloco, B., Morana, G., Striano, P., Capra, V., Srour, M., Saint-Martine, C., Rossi, A. & Severino, M., May 2019, In : Journal of Neurology. 266, 5, p. 1167-1181 15 p.

Research output: Contribution to journalArticle

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22

Tassano, E., Ronchetto, P., Calcagno, A., Fiorio, P., Gimelli, G., Capra, V. & Scala, M., Jun 2019, In : Journal of Genetics. 98, 2

Research output: Contribution to journalArticle

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results

GEN-O-MA study group, Mar 2019, In : Neurol. Sci.. 40, 3, p. 561-570 10 p.

Research output: Contribution to journalArticle

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

on behalf of GEN-O-MA study group, Jan 1 2019, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

Intraspinal Inclusion Tumor After Myelomeningocele Repair: A Long-Term Single-Center Experience

Fiaschi, P., Piatelli, G., Cama, A., Capra, V., Consales, A., Ravegnani, M. & Pavanello, M., Feb 2019, In : World Neurosurg.. 122, p. e1338-e1344

Research output: Contribution to journalArticle

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation

Cataldi, M., Nobili, L., Zara, F., Combi, R., Prato, G., Giacomini, T., Capra, V., De Marco, P., Ferini-Strambi, L. & Mancardi, M. M., Apr 2019, In : Seizure. 67, p. 57-60 4 p.

Research output: Contribution to journalArticle

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Wang, M., Marco, P. D., Capra, V. & Kibar, Z., Oct 4 2019, In : Cells. 8, 10

Research output: Contribution to journalReview article

Whole exome sequencing identifies novel predisposing genes in neural tube defects

Lemay, P., De Marco, P., Traverso, M., Merello, E., Dionne-Laporte, A., Spiegelman, D., Henrion, É., Diallo, O., Audibert, F., Michaud, J. L., Cama, A., Rouleau, G. A., Kibar, Z. & Capra, V., Jan 2019, In : Molecular genetics & genomic medicine. 7, 1, p. e00467

Research output: Contribution to journalArticle

2018

A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions

Scala, M., Accogli, A., De Grandis, E., Allegri, A., Bagowski, C. P., Shoukier, M., Maghnie, M. & Capra, V., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 663-667 5 p.

Research output: Contribution to journalArticle

Clinical Manifestations and Metabolic Outcomes of Seven Adults with Silver-Russell Syndrome

Patti, G., Giaccardi, M., Capra, V., Napoli, F., Cangemi, G., Notarnicola, S., Guzzetti, S., Russo, S., Maghnie, M. & Di Iorgi, N., Jun 1 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 6, p. 2225-2233 9 p.

Research output: Contribution to journalArticle

Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome

Patti, G., Giaccardi, M., Capra, V., Napoli, F., Cangemi, G., Notarnicola, S., Guzzetti, S., Russo, S., Maghnie, M. & Di Iorgi, N., Jun 1 2018, In : The Journal of clinical endocrinology and metabolism. 103, 6, p. 2225-2233 9 p.

Research output: Contribution to journalArticle

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

Pisciotta, L., Capra, V., Accogli, A., Giacomini, T., Prato, G., Tavares, P., Pinto-Basto, J., Morana, G. & Mancardi, M. M., Jun 1 2018, In : Neuropediatrics. 49, 3, p. 217-221 5 p.

Research output: Contribution to journalArticle

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Undiagnosed Diseases Network, Dec 3 2018, In : EMBO Journal. 37, 23

Research output: Contribution to journalArticle

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

Telethon Undiagnosed Diseases Program, Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2835-2840 6 p.

Research output: Contribution to journalArticle

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Imperatore, V., Pinto, A. M., Gelli, E., Trevisson, E., Morbidoni, V., Frullanti, E., Hadjistilianou, T., De Francesco, S., Toti, P., Gusson, E., Roversi, G., Accogli, A., Capra, V., Mencarelli, M. A., Renieri, A. & Ariani, F., 2018, In : European Journal of Human Genetics. 26, 7, p. 1026-1037 12 p.

Research output: Contribution to journalArticle

2017

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

Merello, E., Tattini, L., Magi, A., Accogli, A., Piatelli, G., Pavanello, M., Tortora, D., Cama, A., Kibar, Z., Capra, V. & De Marco, P., Aug 2017, In : European Journal of Human Genetics. 25, 8, p. 952-959 8 p.

Research output: Contribution to journalArticle

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience

Santoro, C., Di Rocco, F., Kossorotoff, M., Zerah, M., Boddaert, N., Calmon, R., Vidaud, D., Cirillo, M., Cinalli, G., Mirone, G., Giugliano, T., Piluso, G., D'Amico, A., Capra, V., Pavanello, M., Cama, A., Nobili, B., Lyonnet, S. & Perrotta, S., Jun 2017, In : American Journal of Medical Genetics, Part A. 173, 6, p. 1521-1530 10 p.

Research output: Contribution to journalArticle

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature

Tortora, D., Severino, M., Accogli, A., Martinetti, C., Vercellino, N., Capra, V., Rossi, A. & Pavanello, M., Dec 2017, In : World Neurosurgery. 108, p. 291-302 12 p.

Research output: Contribution to journalReview article

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

Severino, M., Righini, A., Tortora, D., Pinelli, L., Parazzini, C., Morana, G., Accorsi, P., Capra, V., Paladini, D. & Rossi, A., Aug 2017, In : American Journal of Neuroradiology. 38, 8, p. 1643-1646 4 p.

Research output: Contribution to journalArticle

Rare deleterious variants in GRHL3 are associated with human spina bifida

Lemay, P., De Marco, P., Emond, A., Spiegelman, D., Dionne-Laporte, A., Laurent, S., Merello, E., Accogli, A., Rouleau, G. A., Capra, V. & Kibar, Z., Jun 2017, In : Human Mutation. 38, 6, p. 716-724 9 p.

Research output: Contribution to journalArticle

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization

Kharfallah, F., Guyot, M. C., El Hassan, A. R., Allache, R., Merello, E., De Marco, P., Di Cristo, G., Capra, V. & Kibar, Z., Jun 15 2017, In : Human Molecular Genetics. 26, 12, p. 2307-2320 14 p.

Research output: Contribution to journalArticle

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

Severino, M., Tortora, D., Toselli, B., Uccella, S., Traverso, M., Morana, G., Capra, V., Veneselli, E., Fato, M. M. & Rossi, A., Mar 2017, In : American Journal of Neuroradiology. 38, 3, p. 639-647 9 p.

Research output: Contribution to journalArticle

2016

Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2

Fiorillo, C., Moro, F., Brisca, G., Accogli, A., Trucco, F., Trovato, R., Pedemonte, M., Severino, M., Catala, M., Capra, V., Santorelli, F. M., Bruno, C., Rossi, A. & Minetti, C., Apr 1 2016, In : European Journal of Neurology. 23, 4, p. e19-e21

Research output: Contribution to journalArticle

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma

Mascelli, S., Nozza, P., Sak, K., Joost, K., Cama, A., Capra, V., Garrè, M. L. & Raso, A., Jan 1 2016, In : Pediatric Blood and Cancer. 63, 1, p. 179 1 p.

Research output: Contribution to journalArticle

Erratum to: Genetic Screening of Pediatric Cavernous Malformations

Merello, E., Pavanello, M., Consales, A., Mascelli, S., Raso, A., Accogli, A., Cama, A., Capra, V. & de Marco, P., Nov 3 2016, (Accepted/In press) In : Journal of Molecular Neuroscience. p. 1 1 p.

Research output: Contribution to journalArticle

Genetic Screening of Pediatric Cavernous Malformations

Merello, E., Pavanello, M., Consales, A., Mascelli, S., Raso, A., Accogli, A., Cama, A., Valeria, C. & De Marco, P., Oct 1 2016, In : Journal of Molecular Neuroscience. 60, 2, p. 232-238 7 p.

Research output: Contribution to journalArticle