Stefania Magri

ScholarGPS® ID: 17666051047854

Affiliation

Istituto di Ricovero e Cura a Carattere Scientifico, Italy

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Mutation | Epilepsy | Nervous System

Metrics Summary

Publication Count

Predicted Citations

424

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes (journal article) Castellotti, Barbara \| Canafoglia, Laura \| Freri, Elena \| Tappatà, Maria \| Messina, Giuliana \| Magri, Stefania \| DiFrancesco, Jacopo C. \| Fanella, Martina \| Di Bonaventura, Carlo \| Morano, Alessandra \| ... \| Michelucci, Roberto Epilepsia Open, volume 8, issue 2, pages 645-650 (2023). 10.1002/epi4.12697 Cited by (4) \| Cite \| Source
Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia (journal article) Nanetti, Lorenzo \| Magri, Stefania \| Fichera, Mario \| Castaldo, Anna \| Nigri, Anna \| Pinardi, Chiara \| Mongelli, Alessia \| Sarro, Lidia \| Pareyson, Davide \| Grisoli, Marina \| ... \| Taroni, Franco Movement Disorders, volume 38, issue 4, pages 665-675 (2023). 10.1002/mds.29352 Cited by (8) \| Cite \| Source
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene (journal article) Santangelo, Serena \| Bossolasco, Patrizia \| Magri, Stefania \| Colombrita, Claudia \| Invernizzi, Sabrina \| Gellera, Cinzia \| Nanetti, Lorenzo \| Di Bella, Daniela \| Silani, Vincenzo \| Taroni, Franco \| Ratti, Antonia Stem Cell Research, volume 66 (2023). 10.1016/j.scr.2022.103008 Cited by (1) \| Cite \| Source
3-Methylglutaconic Aciduria Type I (journal article) Benzoni, Chiara \| Magri, Stefania \| Moscatelli, Marco \| Fenu, Silvia \| Caccia, Claudio \| Taroni, Franco \| Salsano, Ettore \| Di Bella, Daniela Neurology Genetics, volume 8, issue 5 (2022). 10.1212/NXG.0000000000200023 Cite \| Source
DNAJB2 ‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening (journal article) Saveri, Paola \| Magri, Stefania \| Maderna, Emanuela \| Balistreri, Francesca \| Lombardi, Raffaella \| Ciano, Claudia \| Moda, Fabio \| Garavaglia, Barbara \| Reale, Chiara \| Lauria Pinter, Giuseppe \| ... \| Pisciotta, Chiara European Journal of Neurology, volume 29, issue 7, pages 2056-2065 (2022). 10.1111/ene.15326 Cited by (6) \| Cite \| Source
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature (journal article) Nanetti, Lorenzo \| Di Bella, Daniela \| Magri, Stefania \| Fichera, Mario \| Sarto, Elisa \| Castaldo, Anna \| Mongelli, Alessia \| Baratta, Silvia \| Fenu, Silvia \| Moscatelli, Marco \| ... \| Taroni, Franco Frontiers in Neurology, volume 12 (2022). 10.3389/fneur.2021.793547 Cited by (7) \| Cite \| Source
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 (journal article) Magri, Stefania \| Nanetti, Lorenzo \| Gellera, Cinzia \| Sarto, Elisa \| Rizzo, Elena \| Mongelli, Alessia \| Ricci, Benedetta \| Fancellu, Roberto \| Sambati, Luisa \| Cortelli, Pietro \| ... \| Taroni, Franco Genetics in Medicine, volume 24, issue 1, pages 29-40 (2022). 10.1016/j.gim.2021.08.003 Cited by (30) \| Cite \| Source
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype (journal article) Gatti, Marta \| Magri, Stefania \| Di Bella, Daniela \| Sarto, Elisa \| Taroni, Franco \| Mariotti, Caterina \| Nanetti, Lorenzo Neurological Sciences, volume 42, issue 11, pages 4741-4745 (2021). 10.1007/s10072-021-05463-0 Cited by (4) \| Cite \| Source
Paroxysmal tonic upgaze in a child with SCN8A‐related encephalopathy∗ (journal article) Solazzi, Roberta \| Castellotti, Barbara \| Canafoglia, Laura \| Messina, Giuliana \| Magri, Stefania \| Freri, Elena \| Ragona, Francesca \| Franceschetti, Silvana \| Di Francesco, Jacopo C. \| Gellera, Cinzia \| Granata, Tiziana Epileptic Disorders, volume 23, issue 4, pages 643-647 (2021). 10.1684/epd.2021.1305 Cited by (2) \| Cite \| Source
Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations (journal article) Abati, Elena \| Magri, Stefania \| Meneri, Megi \| Manenti, Giulia \| Velardo, Daniele \| Balistreri, Francesca \| Pisciotta, Chiara \| Saveri, Paola \| Bresolin, Nereo \| Comi, Giacomo Pietro \| ... \| Corti, Stefania Annals of Clinical and Translational Neurology, volume 8, issue 5, pages 1158-1164 (2021). 10.1002/acn3.51364 Cited by (5) \| Cite \| Source
Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol (journal article) Freri, Elena \| Castellotti, Barbara \| Canafoglia, Laura \| Ragona, Francesca \| Solazzi, Roberta \| Vannicola, Chiara \| Magri, Stefania \| Messina, Giuliana \| D'Arrigo, Stefano \| Gellera, Cinzia \| ... \| Granata, Tiziana Seizure, volume 88 (2021). 10.1016/j.seizure.2021.04.012 Cited by (4) \| Cite \| Source
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children (journal article) Ciaccio, Claudia \| Pantaleoni, Chiara \| Taroni, Franco \| Di Bella, Daniela \| Magri, Stefania \| Lamantea, Eleonora \| Ghezzi, Daniele \| Valente, Enza Maria \| Nigro, Vincenzo \| D’Arrigo, Stefano Applied Sciences, volume 11, issue 5, pages 2333- (2021). 10.3390/app11052333 Cite \| Source
Hypomyelinating leukodystrophies in adults: Clinical and genetic features (journal article) Di Bella, Daniela \| Magri, Stefania \| Benzoni, Chiara \| Farina, Laura \| Maccagnano, Carmelo \| Sarto, Elisa \| Moscatelli, Marco \| Baratta, Silvia \| Ciano, Claudia \| Piacentini, Sylvie H. M. J. \| ... \| Salsano, Ettore European Journal of Neurology, volume 28, issue 3, pages 934-944 (2021). 10.1111/ene.14646 Cited by (15) \| Cite \| Source
Missing the pathological expansion in Huntington disease: de novo c. 51C >G variant on the expanded allele causing intrafamilial allele dropout (journal article) Magri, Stefania \| Nanetti, Lorenzo \| Mongelli, Alessia \| Rizzo, Elena \| Taroni, Franco \| Mariotti, Caterina \| Gellera, Cinzia American Journal of Medical Genetics Part A, volume 185, issue 2, pages 397-400 (2021). 10.1002/ajmg.a.61973 Cited by (1) \| Cite \| Source
Expanding the phenotypic spectrum of TRIM2 ‐associated Charcot‐Marie‐Tooth disease (journal article) Magri, Stefania \| Danti, Federica Rachele \| Balistreri, Francesca \| Baratta, Silvia \| Ciano, Claudia \| Pagliano, Emanuela \| Taroni, Franco \| Moroni, Isabella Journal of the Peripheral Nervous System, volume 25, issue 4, pages 429-432 (2020). 10.1111/jns.12410 Cited by (4) \| Cite \| Source
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene (journal article) Matricardi, Sara \| De Liso, Paola \| Freri, Elena \| Costa, Paola \| Castellotti, Barbara \| Magri, Stefania \| Gellera, Cinzia \| Granata, Tiziana \| Musante, Luciana \| Lesca, Gaetan \| ... \| Marini, Carla Epilepsia, volume 61, issue 11, pages 2474-2485 (2020). 10.1111/epi.16699 Cited by (29) \| Cite \| Source
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population (journal article) Mongelli, Alessia \| Magri, Stefania \| Salvatore, Elena \| Rizzo, Elena \| De Rosa, Anna \| Fico, Tommasina \| Gatti, Marta \| Gellera, Cinzia \| Taroni, Franco \| Mariotti, Caterina \| Nanetti, Lorenzo Neurological Sciences, volume 41, issue 6, pages 1475-1482 (2020). 10.1007/s10072-019-04233-3 Cited by (8) \| Cite \| Source
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation (journal article) Saveri, Paola \| De Luca, Maria \| Nisi, Veronica \| Pisciotta, Chiara \| Romano, Roberta \| Piscosquito, Giuseppe \| Reilly, Mary M. \| Polke, James M. \| Cavallaro, Tiziana \| Fabrizi, Gian Maria \| ... \| Bucci, Cecilia Cells, volume 9, issue 4, pages 1028- (2020). 10.3390/cells9041028 Cited by (20) \| Cite \| Source
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms (journal article) Pensato, Viviana \| Magri, Stefania \| Dalla Bella, Eleonora \| Tannorella, Pierpaola \| Bersano, Enrica \| Sorarù, Gianni \| Gatti, Marta \| Ticozzi, Nicola \| Taroni, Franco \| Lauria, Giuseppe \| ... \| Gellera, Cinzia Journal of Clinical Medicine, volume 9, issue 2, pages 412- (2020). 10.3390/jcm9020412 Cited by (24) \| Cite \| Source
Numerical Modelling for Environmental Impact Assessment of Sediment Dispersion in Port Areas (book chapter) In 30th European Symposium on Computer Aided Process Engineering Magrì, Stefania \| De Gaetano, Patrizia \| Feola, Alessandra \| Lisi, Iolanda \| Salmeri, Andrea \| Venti, Francesco \| Pedroncini, Andrea Elsevier (2020) 10.1016/B978-0-12-823377-1.50057-4 Cited by (1) \| Cite \| Source