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Fabio Gotta

Showing results (11-20 of 28) with videos related to

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Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Cerebellum & Ataxias|March 23, 2018
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrierPaola Origone, Fabio Gotta, Merit Lamp, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
Orphanet Journal of Rare Diseases|October 6, 2018
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"Marina Grandis, Alessandro Geroldi, Rossella Gulli, et al.
Neurobiology of Aging|March 12, 2018
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patientsMerit Lamp, Paola Origone, Alessandro Geroldi, 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.
Frontiers in Genetics|December 20, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathySara 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 AchievementAlessandro Geroldi, Clarissa Ponti, Alessia Mammi, et al.
Life (Basel, Switzerland)|March 25, 2022
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 YearsChiara Gemelli, Alessandro Geroldi, Sara Massucco, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Frontiers in Neurology|November 15, 2023
Case report: Episodic ataxia without ataxia?Andrea Gaudio, Fabio Gotta, Clarissa Ponti, et al.
Cerebellum & Ataxias|March 23, 2018
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrierPaola Origone, Fabio Gotta, Merit Lamp, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
Orphanet Journal of Rare Diseases|October 6, 2018
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"Marina Grandis, Alessandro Geroldi, Rossella Gulli, et al.
Neurobiology of Aging|March 12, 2018
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patientsMerit Lamp, Paola Origone, Alessandro Geroldi, 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.
Frontiers in Genetics|December 20, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathySara 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 AchievementAlessandro Geroldi, Clarissa Ponti, Alessia Mammi, et al.
Life (Basel, Switzerland)|March 25, 2022
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 YearsChiara Gemelli, Alessandro Geroldi, Sara Massucco, et al.
Pageof 3