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Enza Maria Valente

Affiliations: 
Neurogenetics Sapienza University of Rome, Roma, Lazio, Italy 
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"Enza Valente"
Mean distance: 17.51 (cluster 32)
 
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Publications

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Roosing S, Romani M, Isrie M, et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics
Torraco A, Bianchi M, Verrigni D, et al. (2016) A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clinical Genetics
Martella G, Madeo G, Maltese M, et al. (2016) Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. Neurobiology of Disease
Kraoua I, Romani M, Tonduti D, et al. (2016) Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration European Journal of Neurology. 23: e24-e25
Micalizzi A, Poretti A, Romani M, et al. (2016) Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) European Journal of Human Genetics
Petrucci S, Ginevrino M, Valente EM. (2016) Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models Parkinsonism and Related Disorders. 22: S16-S20
Micalizzi A, Moroni I, Ginevrino M, et al. (2016) Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation Neurogenetics. 17: 191-195
Mormina E, Briguglio M, Morabito R, et al. (2015) A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. Brain Imaging and Behavior
Zanellati MC, Monti V, Barzaghi C, et al. (2015) Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. Frontiers in Genetics. 6: 78
Romani M, Mancini F, Micalizzi A, et al. (2015) Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human Genetics. 134: 123-6
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