Publications by authors named "Maria T Bassi"

Claim this Profile
W
Wings of Discovery: Using to Decode Hereditary Spastic Paraplegia and Ataxias.
Rachele Vivarelli, Chiara Vantaggiato, Maria Teresa Bassi, Filippo Maria Santorelli, Maria Marchese

Cells· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.
Chiara Vantaggiato, Giulia Guarato, Francesca Brivio, Elena Panzeri, Beatrice Speltoni, Maria Teresa Bassi

Pharmacol Res· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A new variant confirms GNAI2 as a rare cause of periventricular nodular heterotopia.
Alice Decio, Nivedita Agarwal, Elena Panzeri, Maria Teresa Bassi, Maria Grazia D'Angelo

Neurol Sci· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Davide Mei, Simona Balestrini, Elena Parrini, Antonio Gambardella, Grazia Annesi, Maria Teresa Bassi

J Med Genet· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
Alice Decio, Susan Marelli, Fabiana Mambretti, Maria Teresa Bassi, Maria Grazia D'Angelo

Neurol Sci· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.
Daniele De Ritis, Laura Ferrè, Jonathan De Winter, Clémence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi

Brain Commun· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Ludovica Pasca, Davide Politano, Anna Cavallini, Elena Panzeri, Maria Cristina Vigone, Maria Teresa Bassi

Neuropediatrics· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De Novo Pathogenic Variant in , Non OMIM Gene Paralogue , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi

Genes (Basel)· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
Nicoletta Zanotta, Elena Panzeri, Sara Minghetti, Andrea Citterio, Roberto Giorda, Maria Teresa Bassi

Seizure· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.
Alice Decio, Roberto Giorda, Elena Panzeri, Maria Teresa Bassi, Maria Grazia D'Angelo

Neurol Sci· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Olanzapine, risperidone and ziprasidone differently affect lysosomal function and autophagy, reflecting their different metabolic risk in patients.
Marco Pozzi, Chiara Vantaggiato, Francesca Brivio, Genny Orso, Maria Teresa Bassi

Transl Psychiatry· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Maria Teresa Bassi

Am J Hum Genet· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Maria Teresa Bassi

J Neurol· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case report: A novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.
Elena Panzeri, Andrea Citterio, Andrea Martinuzzi, Vera Ancona, Eleonora Martini, Maria Teresa Bassi

Front Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.
Chiara Vantaggiato, Genny Orso, Giulia Guarato, Francesca Brivio, Barbara Napoli, Maria Teresa Bassi

Brain· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
Daniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, Elena Panzeri, Laura Napoli, Maria Teresa Bassi

Front Neurol· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose -Related Disorders.
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Maria Teresa Bassi

Int J Mol Sci· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi

Neurol Genet· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Maria Teresa Bassi

Sci Rep· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval.
Sara Minghetti, Roberto Giorda, Massimo Mastrangelo, Laura Tassi, Nicoletta Zanotta, Maria Teresa Bassi

Epileptic Disord· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Maria Teresa Bassi

J Neurol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Maria Teresa Bassi

J Neurol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI.
Romina Romaniello, Filippo Arrigoni, Patrizia De Salvo, Maria Clara Bonaglia, Elena Panzeri, Maria Teresa Bassi

Ann Clin Transl Neurol· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
Roberta Epifanio, Roberto Giorda, Maria Carolina Merlano, Nicoletta Zanotta, Romina Romaniello, Maria Teresa Bassi

Brain Sci· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype.
Paulina Roux-Biejat, Marco Coazzoli, Pasquale Marrazzo, Silvia Zecchini, Ilaria Di Renzo, Maria Teresa Bassi

Cells· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis