Articles with public access mandates - Michele IacominoLearn more
Not available anywhere: 7
Chiari malformation type I: what information from the genetics?
V Capra, M Iacomino, A Accogli, M Pavanello, F Zara, A Cama, ...
Child's Nervous System 35, 1665-1671, 2019
Mandates: Government of Italy
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
G Balagura, A Riva, F Marchese, M Iacomino, F Madia, T Giacomini, ...
European Journal of Paediatric Neurology 28, 193-197, 2020
Mandates: Government of Italy
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation
M Iacomino, C Fiorillo, A Torella, M Severino, P Broda, C Romano, ...
european journal of paediatric neurology 22 (3), 541-543, 2018
Mandates: Government of Italy
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation
A Riva, A Coppola, G Balagura, M Scala, M Iacomino, F Marchese, ...
Epileptic Disorders, 397-401, 2021
Mandates: Government of Italy
Novel biallelic variants expand the phenotype of NAA20‐related syndrome
G D'Onofrio, C Cuccurullo, SK Larsen, M Severino, A D'Amico, K Brønstad, ...
Clinical Genetics 104 (3), 371-376, 2023
Mandates: Research Council of Norway
Atypical presentation of aromatic L-amino acid decarboxylase deficiency with developmental epileptic encephalopathy
F Marchese, E Faedo, MS Vari, P Bergonzini, M Iacomino, A Guerra, ...
Journal of Pediatric Epilepsy 10 (03), 124-127, 2021
Mandates: Government of Italy
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
A Riva, M Iacomino, C Piccardo, L Franceschetti, R Franchini, A Baroni, ...
Biochemical and Biophysical Research Communications 673, 131-136, 2023
Mandates: Government of Italy
Available somewhere: 52
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
Mandates: US National Institutes of Health, Health Research Board, Ireland, UK Medical …
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
Mandates: US National Institutes of Health, UK Medical Research Council, National …
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
Mandates: US National Institutes of Health, National Natural Science Foundation of …
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
Mandates: National Health and Medical Research Council, Australia, National Institute …
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ...
The Lancet Neurology 17 (8), 699-708, 2018
Mandates: German Research Foundation, Academy of Finland, Science Foundation Ireland …
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
Mandates: US National Institutes of Health, Academy of Finland, UK Medical Research …
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
HCA Lammertse, AA van Berkel, M Iacomino, RF Toonen, P Striano, ...
Brain 143 (2), 441-451, 2020
Mandates: European Commission, Government of Italy
New trends and most promising therapeutic strategies for epilepsy treatment
A Riva, A Golda, G Balagura, E Amadori, MS Vari, G Piccolo, M Iacomino, ...
Frontiers in neurology 12, 753753, 2021
Mandates: Government of Italy
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
CE Niturad, D Lev, VM Kalscheuer, A Charzewska, J Schubert, ...
Brain 140 (11), 2879-2894, 2017
Mandates: US National Institutes of Health, German Research Foundation, Federal …
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
Mandates: US National Institutes of Health, UK Medical Research Council
The L467F-F508del complex allele hampers pharmacological rescue of mutant CFTR by elexacaftor/tezacaftor/ivacaftor in cystic fibrosis patients: the value of the ex vivo nasal …
E Sondo, F Cresta, C Pastorino, V Tomati, V Capurro, E Pesce, M Lena, ...
International Journal of Molecular Sciences 23 (6), 3175, 2022
Mandates: Government of Italy
Genotype-phenotype correlations in neurofibromatosis type 1: a single-center cohort study
M Scala, I Schiavetti, F Madia, C Chelleri, G Piccolo, A Accogli, A Riva, ...
Cancers 13 (8), 1879, 2021
Mandates: Government of Italy
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ...
Brain 144 (5), 1422-1434, 2021
Mandates: US Department of Defense, US National Institutes of Health, Research …
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