Manuela Priolo

9PUBLICATIONS
29CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingNeurogeneticsTe mātai huingaira o te Māori (Māori genomics)Te Whāriki - te mātauranga kōhungahunga Māori (Māori early childhood education)
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Publications (9)

|Jul 28, 2026
Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

|Oct 29, 2025
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles

|Feb 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Luigi Chiriatti, Manuela Priolo, Roberta Onesimo

|Feb 26, 2025
Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.

Niccolò Butti, Cosimo Urgesi, Paolo Alfieri

|Jul 29, 2024
Natural history in Malan syndrome: survey of 28 adults and literature review.

T N Huynh, C G Delagrammatikas, L Chiriatti

|Apr 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Manuela Priolo, Erika Zara, Francesca Clementina Radio

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Frequent Collaborators

6 joint publications

Marco Tartaglia

4 joint publications

Marcello Niceta

4 joint publications

Francesca Clementina Radio

2 joint publications

Paolo Alfieri