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Clarissa Ponti

Showing results (1-10 of 8) with videos related to

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International Journal of Molecular Sciences|May 7, 2025
GWAS by Subtraction to Disentangle RBD Genetic Background from α-SynucleinopathiesAndrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Journal of Medical Genetics|June 13, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluationAlessandro Geroldi, Alessia Mammi, Andrea Gaudio, et al.
Journal of the Peripheral Nervous System : JPNS|June 14, 2024
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian familyAlessia Mammi, Alessandro Geroldi, Serena Patrone, et al.
Pediatric Neurology|March 1, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis AchievementAlessandro Geroldi, Clarissa Ponti, Alessia Mammi, et al.
Journal of the Peripheral Nervous System : JPNS|October 28, 2023
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibersAlessandro Geroldi, Stefano Tozza, Chiara Fiorillo, et al.
Journal of the Peripheral Nervous System : JPNS|September 9, 2024
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathiesAlessandro Geroldi, Andrea La Barbera, Alessia Mammi, et al.
Frontiers in Neurology|February 15, 2024
Distribution of the <i>C9orf72</i> hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitationEmiliano Giardina, Paola Mandich, Roberta Ghidoni, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
International Journal of Molecular Sciences|May 7, 2025
GWAS by Subtraction to Disentangle RBD Genetic Background from α-SynucleinopathiesAndrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Journal of Medical Genetics|June 13, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluationAlessandro Geroldi, Alessia Mammi, Andrea Gaudio, et al.
Journal of the Peripheral Nervous System : JPNS|June 14, 2024
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian familyAlessia Mammi, Alessandro Geroldi, Serena Patrone, et al.
Pediatric Neurology|March 1, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis AchievementAlessandro Geroldi, Clarissa Ponti, Alessia Mammi, et al.
Journal of the Peripheral Nervous System : JPNS|October 28, 2023
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibersAlessandro Geroldi, Stefano Tozza, Chiara Fiorillo, et al.
Journal of the Peripheral Nervous System : JPNS|September 9, 2024
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathiesAlessandro Geroldi, Andrea La Barbera, Alessia Mammi, et al.
Frontiers in Neurology|February 15, 2024
Distribution of the <i>C9orf72</i> hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitationEmiliano Giardina, Paola Mandich, Roberta Ghidoni, et al.
Pageof 1