Enza Maria Valente

ScholarGPS® ID: 78867402183823

Affiliation

University of Pavia, Pavia, Italy

Affiliation History

Field

Life Sciences

Discipline

Molecular and Cell Biology

Top Specialties

Metrics Summary

Publication Count

270

Predicted Citations

19,150

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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Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy (journal article) Gana, Simone \| Valente, Enza Maria Developmental Medicine & Child Neurology, volume 66, issue 7, pages 834-835 (2024). 10.1111/dmcn.15887 Cite \| Source
ACOX1 gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy (journal article) Filippi, Corinna \| Brunetti, Sara \| Plumari, Massimo \| Valente, Enza Maria \| Accorsi, Patrizia \| Fazzi, Elisa Maria American Journal of Medical Genetics Part A (2024). 10.1002/ajmg.a.63796 Cite \| Source
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract (journal article) Lecca, Mauro \| Mauri, Lucia \| Gana, Simone \| Del Longo, Alessandra \| Morelli, Federica \| Nicotra, Roberta \| Plumari, Massimo \| Galli, Jessica \| Sirchia, Fabio \| Valente, Enza Maria \| ... \| Errichiello, Edoardo Clinical Genetics (2024). 10.1111/cge.14568 Cite \| Source
Cerebellar heterotopia in an 11‐year‐old child with KDM6B ‐related neurodevelopmental disorder: A case report and review of the literature (journal article) Politano, Davide \| D'Abrusco, Fulvio \| Pasca, Ludovica \| Ferraro, Francesca \| Gana, Simone \| Garau, Jessica \| Zanaboni, Martina Paola \| Rognone, Elisa \| Pichiecchio, Anna \| Borgatti, Renato \| ... \| Romaniello, Romina American Journal of Medical Genetics Part A, volume 194, issue 6 (2024). 10.1002/ajmg.a.63555 Cite \| Source
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report (journal article) Imarisio, Alberto \| Pilotto, Andrea \| Lupini, Alessandro \| Biasiotto, Giorgio \| Zanella, Isabella \| Currò, Riccardo \| Vegezzi, Elisa \| Cortese, Andrea \| Palmieri, Ilaria \| Valente, Enza Maria \| Padovani, Alessandro Parkinsonism & Related Disorders, volume 123 (2024). 10.1016/j.parkreldis.2024.106943 Cite \| Source
Functional Study of SNCA p. V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase (journal article) Avenali, Micol \| Cerri, Silvia \| Palmieri, Ilaria \| Ongari, Gerardo \| Stiuso, Rita \| Buongarzone, Gabriele \| Tassorelli, Cristina \| Biagini, Tommaso \| Valente, Marialuisa \| Cereda, Cristina \| ... \| Valente, Enza Maria Movement Disorders, volume 39, issue 6, pages 1060-1065 (2024). 10.1002/mds.29736 Cite \| Source
LZTFL1 , a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? (journal article) Gana, Simone \| Di Biagio, Marta \| Carraro, Laura \| Rossetto, Gloria \| Scarpelli, Laura \| Scognamillo, Ilaria \| Valente, Enza Maria \| Signorini, Sabrina American Journal of Medical Genetics Part A (2024). 10.1002/ajmg.a.63723 Cite \| Source
Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar Malformations (journal article) Butti, Niccolò \| Biffi, Emilia \| Romaniello, Romina \| Finisguerra, Alessandra \| Valente, Enza Maria \| Strazzer, Sandra \| Borgatti, Renato \| Urgesi, Cosimo Journal of Autism and Developmental Disorders (2024). 10.1007/s10803-024-06349-8 Cited by (1) \| Cite \| Source
MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease (journal article) De Santis, Tiziana \| Politi, Letterio S. \| Valente, Enza Maria \| Albanese, Alberto Annals of Neurology, volume 95, issue 5, pages 1009-1010 (2024). 10.1002/ana.26853 Cited by (1) \| Cite \| Source
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro (journal article) De Mori, Roberta \| Tardivo, Silvia \| Pollara, Lidia \| Giliani, Silvia Clara \| Ali, Eltahir \| Giordano, Lucio \| Leuzzi, Vincenzo \| Fischetto, Rita \| Gener, Blanca \| Diprima, Santo \| ... \| Valente, Enza Maria Cell and Tissue Research, volume 396, issue 2, pages 255-267 (2024). 10.1007/s00441-024-03876-9 Cite \| Source
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus (journal article) Orsi, A. \| Serpieri, V. \| Mazzotta, C. \| Ramusino, M. Cotta \| Rossi, E. \| Cerri, S. \| Valente, E.M. Stem Cell Research, volume 76 (2024). 10.1016/j.scr.2024.103332 Cite \| Source
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease (journal article) Papagiannakis, Nikolaos \| Liu, Hui \| Koros, Christos \| Simitsi, Athina‐Maria \| Stamelou, Maria \| Maniati, Matina \| Buena‐Atienza, Elena \| Kartanou, Chrysoula \| Karadima, Georgia \| Makrythanasis, Periklis \| ... \| Stefanis, Leonidas Movement Disorders, volume 39, issue 4, pages 715-722 (2024). 10.1002/mds.29739 Cite \| Source
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates (journal article) Ravaglia, Sabrina \| Gana, Simone \| Valente, Enza Maria Pediatric Research (2024). 10.1038/s41390-024-03149-9 Cite \| Source
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease (journal article) Imarisio, Alberto \| Yahyavi, Isar \| Avenali, Micol \| Di Maio, Anna \| Buongarzone, Gabriele \| Galandra, Caterina \| Picascia, Marta \| Filosa, Asia \| Gasparri, Clara \| Monti, Maria Cristina \| ... \| Usiello, Alessandro Neurobiology of Disease, volume 192 (2024). 10.1016/j.nbd.2024.106413 Cited by (1) \| Cite \| Source
Visual function in children with Joubert syndrome (journal article) Morelli, Federica \| Toni, Federico \| Saligari, Elena \| D'Abrusco, Fulvio \| Serpieri, Valentina \| Ballante, Elena \| Ruberto, Giulio \| Borgatti, Renato \| Valente, Enza Maria \| Signorini, Sabrina Developmental Medicine & Child Neurology, volume 66, issue 3, pages 379-388 (2024). 10.1111/dmcn.15732 Cited by (1) \| Cite \| Source
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome (journal article) Carrara, Adelaide \| Mangiarotti, Camilla \| Pasca, Ludovica \| Politano, Davide \| Abrusco, Fulvio D.’ \| Barbero, Veronica Carmen \| Carpani, Adriana \| Borgatti, Renato \| Pichiecchio, Anna \| Valente, Enza Maria \| Romaniello, Romina The Cerebellum (2024). 10.1007/s12311-024-01661-6 Cite \| Source
Impaired Mitochondrial Respiration in REM ‐Sleep Behavior Disorder: A Biomarker of Parkinson's Disease? (journal article) Ongari, Gerardo \| Ghezzi, Cristina \| Di Martino, Deborah \| Pisani, Antonio \| Terzaghi, Michele \| Avenali, Micol \| Valente, Enza Maria \| Cerri, Silvia \| Blandini, Fabio Movement Disorders, volume 39, issue 2, pages 294-304 (2024). 10.1002/mds.29643 Cite \| Source
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements (journal article) Prato, Adriana \| Cirnigliaro, Lara \| Maugeri, Federica \| Luca, Antonina \| Giuliano, Loretta \| Vitiello, Giuseppina \| Errichiello, Edoardo \| Valente, Enza Maria \| Del Giudice, Ennio \| Mostile, Giovanni \| ... \| Barone, Rita Journal of Clinical Medicine, volume 13, issue 4, pages 1109- (2024). 10.3390/jcm13041109 Cite \| Source
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene (journal article) Mazzotta, C. \| Serpieri, V. \| Orsi, A. \| Cavan, S. \| Rossi, E. \| Stanzial, F. \| Valente, E.M. Stem Cell Research, volume 74 (2024). 10.1016/j.scr.2023.103267 Cite \| Source
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother (journal article) Minniti, Maria Letizia \| Kalantari, Silvia \| Pasca, Ludovica \| Bruno, Samantha \| Arceri, Sebastiano \| Novello, Elisa \| Giorgio, Elisa \| Rizzo, Vittoria \| Borgatti, Renato \| Valente, Enza Maria \| ... \| Sirchia, Fabio American Journal of Medical Genetics Part A, volume 194, issue 1, pages 82-87 (2024). 10.1002/ajmg.a.63413 Cite \| Source