E. Gregorio

发表

Parkinsonism and Related Disorders

F. Tempia, B. Borroni, A. Padovani, 2016 .

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

E. Gregorio, G. Vaula, L. Pinessi, 2015, Journal of the Neurological Sciences.

Spinocerebellar ataxia type 38

E. Gregorio, A. Brusco, Borroni Barbara, 2019, Definitions.

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

E. Gregorio, L. Orsi, A. Brusco, 2008, Journal of Neurology.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

A. Vanderver, J. Bouchard, C. Toro, 2013, Human mutation.

Array-CGH analysis in fetuses with major congenital malformations reveals that 24 % of cases have pathogenic deletions / duplications

B. Pasini, E. Gregorio, A. Brusco, 2016 .

REPORT ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

F. Tempia, A. Durr, M. Papotti, 2014 .

Erratum: A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia (Movement Disorders (2008) vol. 23 (1468-1471) 10.1002/mds.21953)

E. Gregorio, L. Orsi, A. Brusco, 2008 .

Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15

Eleonora Di Gregorio, Eric Salmon, Alessandro Brussino, 2010, The Cerebellum.

Combining Memory and Non-linearity in Echo State Networks

Claudio Gallicchio, Alessio Micheli, Eleonora Di Gregorio, 2018, ICANN.

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

Mauro, E. Gregorio, G. Vaula, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations

E. Gregorio, G. Vaula, L. Pinessi, 2010, European journal of neurology.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy

G. De Michele, A. Filla, A. Tessa, 2018, European journal of neurology.