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Research Output 2017 2020

2020

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access
Complementary RNA
Mutation
Zebrafish
Sensation Disorders
Exome
2019

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Jul 12 2019, In : Nature Communications. 10, 1, p. 3094

Research output: Contribution to journalArticle

AMPA Receptors
mutations
disabilities
Brain Diseases
disorders

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

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

Schulz, H., Ruppert, A-K., Zara, F., Madia, F., Iacomino, M., S Vari, M., Balagura, G., Minetti, C., Striano, P., Bianchi, A., Marini, C., Guerrini, R., Weber, Y. G., Becker, F., Lerche, H., Kapser, C., Schankin, C. J., Kunz, W. S., Møller, R. S., Oliver, K. L. & 11 others, Bellows, S. T., Mullen, S. A., Berkovic, S. F., Scheffer, I. E., Caglayan, H., Ozbek, U., Hoffmann, P., Schramm, S., Tsortouktzidis, D., Becker, A. J. & Sander, T., May 2019, In : Epilepsia. 60, 5, p. e31-e36

Research output: Contribution to journalArticle

Juvenile Myoclonic Epilepsy
Leukocytes
Methylation
Proteins
Generalized Epilepsy
Mutation
Muscles
Distal Myopathies
Biopsy
Ubiquitin-Protein Ligases

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Striano, P., Zara, F., Iacomino, M., Madia, F., Mancardi, M. M. & Salpietro, V., Aug 1 2019, In : American Journal of Human Genetics. 105, 2, p. 267-282 16 p.

Research output: Contribution to journalArticle

Exome
Epilepsy
Generalized Epilepsy
Partial Epilepsy
Genes
2018

Inflammatory myopathy in a patient with collagen VI mutations

Papa, R., Fiorillo, C., Malattia, C., Minoia, F., Caorsi, R., Assereto, S., Iacomino, M., Savarese, M., Nigro, V., Bruno, C., Minetti, C. & Picco, P., Mar 4 2018, In : Scandinavian Journal of Rheumatology. 47, 2, p. 166-167 2 p.

Research output: Contribution to journalLetter

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

Iacomino, M., Fiorillo, C., Torella, A., Severino, M., Broda, P., Romano, C., Falsaperla, R., Pozzolini, G., Minetti, C., Striano, P., Nigro, V. & Zara, F., May 1 2018, In : European Journal of Paediatric Neurology. 22, 3, p. 541-543 3 p.

Research output: Contribution to journalArticle

Motor Neurons
Mutation
Exome
Phenotype
Spinal Muscular Atrophy
2017

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Niturad, C. E., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M. & 20 others, Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S. A., Nürnberg, P., van Gassen, K. L. I., Lerche, H., Zara, F., Maljevic, S., Leshinsky-Silver, E. & EuroEPINOMICS Consortium, Nov 1 2017, In : Brain : a journal of neurology. 140, 11, p. 2879-2894 16 p.

Research output: Contribution to journalArticle

Brain Diseases
Epilepsy
Genes
Mutation
GABA-A Receptors

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Niturad, C. E., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M. & 19 others, Rzoca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S. A., Nürnberg, P., Van Gassen, K. L. I., Lerche, H., Zara, F., Maljevic, S. & Leshinsky-Silver, E., Nov 1 2017, In : Brain. 140, 11, p. 2879-2894 16 p.

Research output: Contribution to journalArticle

Brain Diseases
Epilepsy
Genes
Mutation
GABA-A Receptors