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Research Output 1988 2019

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., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Brain Diseases
Circadian Rhythm
Sleep
Crying
Inborn Genetic Diseases

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

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 : a journal of neurology. 142 , (10), p. 2965-78 14 p.

Research output: Contribution to journalArticle

Globus Pallidus
Homeobox Genes
Putamen
Basal Ganglia
Mutation

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. 2965-2978 14 p.

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
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

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

Research output: Contribution to journalArticle

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

Uridine
Transfer RNA
Anticodon
Alleles
Lissencephaly

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

Arnold-Chiari Malformation
Occipital Bone
Foramen Magnum
Genes
Exome

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

Brain Diseases
Mutation
Brain
Intellectual Disability
Epilepsy

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

Agenesis of Corpus Callosum
Malformations of Cortical Development
Cysts
Phenotype
Aicardi Syndrome

'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

Hearing Loss
Mothers
Genomic Segmental Duplications
Consanguinity
Dyslexia
Pituitary Gland
Haploinsufficiency
Phenotype
Comparative Genomic Hybridization
Neurogenesis

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

Moyamoya Disease
Age of Onset
Neuroimaging
Italy
Phenotype

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

Age of Onset
Neuroimaging
Italy
Phenotype
Disease Susceptibility

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

Meningomyelocele
Neoplasms
Neurologic Examination
Neurosurgery
Medical Records

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

Brain Neoplasms
Intellectual Disability
Agenesis of Corpus Callosum
Exome
Malformations of Cortical Development

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

Cell Polarity
Neural Tube Defects
Defects
Neural Tube
Live Birth

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

Exome
Neural Tube Defects
Genes
Neural Tube
Parturition
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

Mutation
Arthrogryposis
Muscle Development
Bone Development
Contracture

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

Silver-Russell Syndrome
Silver
Fats
Extremities
Glucose

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

Silver-Russell Syndrome
Silver
Fats
Extremities
Glucose

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

Brain Diseases
Phenotype
Mutation
Extremities
Ectodermal Dysplasia

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

Tubulin
Neurons
Purkinje Cells
Motor Neurons
Post Translational Protein Processing

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

Hydrocephalus
Intellectual Disability
Agenesis of Corpus Callosum
Microcephaly
Mutation

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

Moyamoya Disease
Therapeutics
Cerebrovascular Disorders
Inborn Genetic Diseases
Costello Syndrome
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

Arnold-Chiari Malformation
Exome
Pedigree
Occipital Bone
Genes

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 Disease
Neurofibromatosis 1
Neurofibromatoses
Cerebral Infarction
Neuroimaging

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

Moyamoya Disease
Eye Abnormalities
Hemangioma
Natural History
Neurocutaneous Syndromes

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

Butterflies
Fetus
Hydrocephalus
Mesencephalon
Diencephalon

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

Spinal Dysraphism
Transcriptional Activation
Neural Tube
Neural Tube Defects
Luciferases

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

Neural Tube Defects
Cell Polarity
Mutation
Madin Darby Canine Kidney Cells
Missense Mutation

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

Agenesis of Corpus Callosum
Corpus Callosum
Connectome
Brain Fornix
Parietal Lobe
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

Mesencephalon
Pons
Brain
Pyramidal Tracts
Muscle Spasticity
Mesencephalon
Pons
Brain
Pyramidal Tracts
Muscle Spasticity

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

Central Nervous System Cavernous Hemangioma
Genetic Testing
Pediatrics
Mutation
Messenger RNA
Spinal Cord Vascular Diseases
Spinal Cord Injuries
Hemorrhage
Wounds and Injuries
Neurologic Manifestations

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits

Tassano, E., Accogli, A., Pavanello, M., Bruno, C., Capra, V., Gimelli, G. & Cuoco, C., Jan 1 2016, In : European Journal of Medical Genetics. 59, 1, p. 20-25 6 p.

Research output: Contribution to journalArticle

Genes
Phenotype
Craniosynostoses
Chromosome Deletion
Epigenomics

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

Accogli, A., Pavanello, M., Accorsi, P., De Marco, P., Merello, E., Pacetti, M., Nozza, P., Fiorillo, C., Pinelli, L., Cama, A., Rossi, A., Catala, M. & Capra, V., 2016, (Accepted/In press) In : Birth Defects Research Part A - Clinical and Molecular Teratology.

Research output: Contribution to journalArticle

Lipoma
Ribs
Neural Tube Defects
Phenotype
Cauda Equina