World's Best Scientists 2026 revealed!
Enza Maria Valente

Enza Maria Valente

D-Index & Metrics

Genetics

D-Index
77
Citations
44900
World Ranking
1732
National Ranking
30

Medicine

D-Index
83
Citations
48343
World Ranking
15345
National Ranking
596

Overview

Enza Maria Valente is affiliated with the University of Pavia in Italy and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and medicine. Their research intersects several specialized areas including genetics, neurology, molecular biology, cellular and molecular neuroscience, and physiology.

Valente's work prominently addresses topics such as Parkinson's disease mechanisms and treatments, genetic and kidney cyst diseases, fetal and pediatric neurological disorders, neurological disorders and treatments, lysosomal storage disorders research, RNA regulation and disease, and genetics and neurodevelopmental disorders.

The scientist has published papers in multiple respected journals and venues. Some recent papers include:

  • "Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism" (2020, Brain)
  • "GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort" (2020, Movement Disorders)
  • "RFC1 expansions are a common cause of idiopathic sensory neuropathy" (2021, Brain)
  • "Genotype-phenotype correlates in Joubert syndrome: A review" (2022, American Journal of Medical Genetics Part C Seminars in Medical Genetics)
  • "AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability" (2021, Autophagy)

Frequent co-authors collaborating with Valente include:

  • Micol Avenali
  • Simone Gana
  • Renato Borgatti
  • Valentina Serpieri
  • Sabrina Signorini

Valente's work has appeared repeatedly in publication venues such as:

  • Movement Disorders
  • Parkinsonism & Related Disorders
  • Zenodo (CERN European Organization for Nuclear Research)
  • American Journal of Medical Genetics Part A
  • bioRxiv (Cold Spring Harbor Laboratory)

The range of Valente's scholarly production reflects a focus on complex neurological and genetic conditions, with many contributions examining disease mechanisms and genotype-phenotype relationships in inherited disorders. Their research outputs span detailed molecular investigations as well as broader clinical genetic studies.

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

    Eriza Maria Valente;Patrick M. Abou-Sleiman;Viviana Caputo;Miratul M K Muqit

  • An SCN9A channelopathy causes congenital inability to experience pain

    James J Cox;Frank Reimann;Adeline K. Nicholas;Gemma K Thornton

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • PINK1 mutations are associated with sporadic early-onset parkinsonism.

    Enza Maria Valente;Sergio Salvi;Tamara Ialongo;Roberta Marongiu

  • Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

    Enza Maria Valente;Anna Rita Bentivoglio;Peter H. Dixon;Alessandro Ferraris

  • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  • Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands

    L. Padua;M. LoMonaco;B. Gregori;E. M. Valente

  • Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

    Laura Silvestri;Viviana Caputo;Emanuele Bellacchio;Luigia Atorino

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • Joubert Syndrome and related disorders

    Francesco Brancati;Bruno Dallapiccola;Enza Maria Valente;Enza Maria Valente

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

    Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  • Motile and non-motile cilia in human pathology: from function to phenotypes.

    Hannah M Mitchison;Enza Maria Valente

  • Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

    Marta Romani;Alessia Micalizzi;Enza Maria Valente;Enza Maria Valente

  • Translation initiator EIF4G1 mutations in familial Parkinson disease

    Marie Christine Chartier-Harlin;Marie Christine Chartier-Harlin;Justus C. Dachsel;Carles Vilariño-Güell;Sarah J. Lincoln

  • PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation

    Vania Gelmetti;Priscilla De Rosa;Liliana Torosantucci;Elettra Sara Marini

Frequent Co-Authors

Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Francesco Brancati
Francesco Brancati University of L'Aquila
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Anna Rita Bentivoglio
Anna Rita Bentivoglio Catholic University of the Sacred Heart
Eugen Boltshauser
Eugen Boltshauser University of Zurich
Alberto Albanese
Alberto Albanese Catholic University of the Sacred Heart
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Kailash P. Bhatia
Kailash P. Bhatia University College London
Nicholas W. Wood
Nicholas W. Wood University College London
Paolo Barone
Paolo Barone University of Salerno

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