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Manuela Tolve

5PUBLICATIONS
39CO-AUTHORS
Neurology and neuromuscular diseasesMetabolic medicineGene expression (incl. microarray and other genome-wide approaches)Testing, assessment and psychometrics
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Journal

Publications (5)

Sort by Publication Date:
|Dec 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Filippo Manti, Giacomina Ricciardi, Francesca Nardecchia

|Dec 11, 2025
GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

Sara Biagiotti, Elena Perla, Serafina Manila Guzzo

|Sep 22, 2025
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

Francesca Nardecchia, Agnese De Giorgi, Silvia Santagata

|Nov 08, 2021
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Sara Nuovo, Valentina Baglioni, Roberta De Mori

|Aug 23, 2020
<i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Luca Pollini, Serena Galosi, Manuela Tolve

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Frequent Collaborators

4 joint publications

Vincenzo Leuzzi

3 joint publications

Claudia Carducci

3 joint publications

Francesca Nardecchia

2 joint publications

Caterina Caputi

2 joint publications

Carla Carducci

2 joint publications

Francesco Pisani

1 joint publications

Sara Nuovo

1 joint publications

Roberta De Mori

1 joint publications

Silvia Tardivo

1 joint publications

Alessia Micalizzi

Frequent Collaborators

4 joint publications

Vincenzo Leuzzi

3 joint publications

Claudia Carducci

3 joint publications

Francesca Nardecchia

2 joint publications

Caterina Caputi

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