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Enza Maria Valente

Full Professor of Medical Genetics

University of Pavia

Italy

Research Interests

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Articles (20)

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2026

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Collaborators (16)

Michele Terzaghi

Professor

University of Pavia

ITALY

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Barbara Garavaglia

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Marco Tartaglia

Head

Ospedale Pediatrico Bambino Gesù

ITALY

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Simone Gana

Fondazione Istituto Neurologico Nazionale Casimiro Mondino

ITALY

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Alberto Albanese

Professor of Neurology

IRCCS Humanitas Research Hospital

ITALY

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Rita Barone

University of Catania

ITALY

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Edoardo Errichiello

Assistant Professor

University of Pavia

ITALY

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Michela Palmisani

Università degli Studi di Pavia

ITALY

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Roberto Eleopra

Chief of Neurology Unit

Fondazione IRCCS Istituto Neurologico Carlo Besta

ITALY

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Deborah Di Martino

Fondazione Istituto Neurologico Nazionale Casimiro Mondino

ITALY

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Antonina Luca

Professore Associato

Università degli Studi di Enna Kore

ITALY

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Simona Orcesi

MD, Full Professor

Fondazione Istituto Neurologico Nazionale Casimiro Mondino

ITALY

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Vincenzo Leuzzi

full professor of Child Neurology and Psychiatry

Università degli Studi di Roma La Sapienza

ITALY

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Riccardo Bellazzi

Professore Ordinario

University of Pavia

ITALY

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Fabio Moda

Assistant professor of Clinical Biochemistry and Clinical Molecular Biology

Università di Milano

ITALY

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Renata Rizzo

ITALY

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Enza Maria Valente

Research Interests

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Articles (20)

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

KIF5C -Related Neurodevelopmental Disorder

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B‐Associated Parkinsonism

Analysis of Primary Cilium‐Bearing Human Neuroprogenitors Using Flow Cytometry

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency

LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in Phase II Study on GBA-Associated Parkinson’s Disease Patients

RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry

RAB32‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

Genetic and Epidemiological Insights into RAB32‐Linked Parkinson's Disease

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy

Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease?

“Relapsing–Remitting” Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency

Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants

Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions

Collaborators (16)

Michele Terzaghi

Barbara Garavaglia

Marco Tartaglia

Simone Gana

Alberto Albanese

Rita Barone

Edoardo Errichiello

Michela Palmisani

Roberto Eleopra

Deborah Di Martino

Antonina Luca

Simona Orcesi

Vincenzo Leuzzi

Riccardo Bellazzi

Fabio Moda

Renata Rizzo

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