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International Journal of Molecular Sciences
|
May 7, 2025
GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies
Andrea 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 evaluation
Alessandro 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 family
Alessia Mammi, Alessandro Geroldi, Serena Patrone, et al.
Frontiers in Genetics
|
December 20, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy
Sara Massucco, Paola Fossa, Chiara Fiorillo, et al.
Pediatric Neurology
|
March 1, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
Alessandro 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 fibers
Alessandro 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 neuropathies
Alessandro Geroldi, Andrea La Barbera, Alessia Mammi, et al.
Parkinsonism & Related Disorders
|
March 29, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease
Giada Cuconato, Ilaria Palmieri, Marco Percetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 26, 2023
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, et al.
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Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
International Journal of Molecular Sciences
|
May 7, 2025
GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies
Andrea 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 evaluation
Alessandro 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 family
Alessia Mammi, Alessandro Geroldi, Serena Patrone, et al.
Frontiers in Genetics
|
December 20, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy
Sara Massucco, Paola Fossa, Chiara Fiorillo, et al.
Pediatric Neurology
|
March 1, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
Alessandro 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 fibers
Alessandro 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 neuropathies
Alessandro Geroldi, Andrea La Barbera, Alessia Mammi, et al.
Parkinsonism & Related Disorders
|
March 29, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease
Giada Cuconato, Ilaria Palmieri, Marco Percetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 26, 2023
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, et al.
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