default author photo

Enrico Silvio Bertini

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

3

DOWNLOADS

190

TOTAL CITATIONS

0

Scholarly Papers (3)

Actions:
Email selected abstracts
1.

Developmental Trajectory of Individuals with Pelizaeus-Merzbacher Disease (PMD)

Number of pages: 32 Posted: 02 Jan 2026
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, Kaleb Kelley, Ylenia Vaia, Francesco Gavazzi, Johanna Schmidt, Amy Pizzino, Russell D’Aiello, Eloise Uebergang, Fabio Bruschi, Amytice Mirchi, Chihiro Abe-Hatano, Jacopo Sartorelli, Francesco Nicita, Chloe Cunningham, Davide Tonduti, Enrico Silvio Bertini, Geneviève Bernard, Ken Inoue, Nicole I. Wolf, Laura Adang, Justine Shults and Adeline Vanderver
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, C.O.A.L.A (Center for diagnosis and treatment of 5eukodystrophies), affiliation not provided to SSRN, affiliation not provided to SSRN, Children’s Hospital of Philadelphia, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, McGill University, National Center of Neurology and Psychiatry, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, McGill University, National Center of Neurology and Psychiatry, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Pennsylvania and University of Pennsylvania
Downloads 81 (809,932)

Abstract:

Loading...

Pelizaeus-Merzbacher Disease, developmental outcomes, disease progression, prognosis prediction, cohort stratification, clinical trial readiness

2.

Genotype-phenotype correlations of GFAP variants in Type I Alexander Disease subtypes

Number of pages: 35 Posted: 02 Oct 2025
Tiziana Bachetti, Ylenia Vaia, Alice Grossi, Francesca Rosamilia, Enrico Silvio Bertini, Francesco Nicita, Deianira Bellitto, Florian Eichler, Geneviève Bernard, Amanda Nagy, Ayelet Zerem, Morteza Heidari, Ali Reza Tavasoli, Isabella Moroni, Isabella Ceccherini and Davide Tonduti
affiliation not provided to SSRN, C.O.A.L.A (Center for diagnosis and treatment of 5eukodystrophies), IRCCS Istituto Giannina Gaslini, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, McGill University, affiliation not provided to SSRN, Tel Aviv Sourasky Medical Centre - Department of Neurology, Tehran University of Medical Sciences, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and affiliation not provided to SSRN
Downloads 56 (1,000,027)

Abstract:

Loading...

gene variant, GFAP, genotype-phenotype correlation, neurodegeneration, Alexander disease

3.

The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study

Number of pages: 31 Posted: 11 Sep 2025
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Alexandra Chapleau, Romy J. van Voorst, Enrico Silvio Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores González Monron, Marcelo Andrés Kauffman, Danilo De Assis Pereira, Adeline Vanderver, MS. van der Knaap, Maxime Morsa and Geneviève Bernard
McGill University - Department of Neurology and Neurosurgery, University of Montreal, University of Montreal, affiliation not provided to SSRN, University of Amsterdam - Amsterdam UMC, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Ottawa - Faculty of Medicine, Western University, Emory University, Mayo Clinic, Universidad Austral, Universidad Austral, affiliation not provided to SSRN, affiliation not provided to SSRN, Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, affiliation not provided to SSRN and McGill University
Downloads 53 (1,031,043)

Abstract:

Loading...

POLR3-related Leukodystrophy, Thematic Analysis, Burden of Disease, Rare Disease, Parents and Caregivers, Impact on Siblings