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Fabio Gotta

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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.
Journal of Genetic Counseling|April 7, 2015
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test ResultsPaola Mandich, Vittorio Mantero, Simonetta Verdiani, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of GenoaPaola Mandich, Merit Lamp, Fabio Gotta, et al.
Frontiers in Cardiovascular Medicine|December 10, 2024
Genetics architecture of spontaneous coronary artery dissection in an Italian cohortMarta Casula, Daniela Marchetti, Lucia Trevisan, et al.
Genes|February 27, 2026
Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding DiabetesConcetta Aloi, Alessandro Salina, Serena Cappato, et al.
Molecular Genetics & Genomic Medicine|July 28, 2021
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvementFederica Ruscitti, Lucia Trevisan, Giulia Rosti, et al.
Neuromuscular Disorders : NMD|February 21, 2017
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritanceAlessandro Geroldi, Patrizia Lastella, Margherita Patruno, et al.
Neuro-Degenerative Diseases|March 21, 2019
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian PatientsPaola Origone, Alessandro Geroldi, Merit Lamp, et al.
Annals of Human Genetics|April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.
Brain Sciences|January 28, 2026
The Inflammatory Side of Iatrogenic Cerebral Amyloid Angiopathy: Rethinking Therapeutic OpportunitiesMattia Losa, Andrea Donniaquio, Ilaria Gandoglia, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
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.
Journal of Genetic Counseling|April 7, 2015
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test ResultsPaola Mandich, Vittorio Mantero, Simonetta Verdiani, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of GenoaPaola Mandich, Merit Lamp, Fabio Gotta, et al.
Frontiers in Cardiovascular Medicine|December 10, 2024
Genetics architecture of spontaneous coronary artery dissection in an Italian cohortMarta Casula, Daniela Marchetti, Lucia Trevisan, et al.
Genes|February 27, 2026
Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding DiabetesConcetta Aloi, Alessandro Salina, Serena Cappato, et al.
Molecular Genetics & Genomic Medicine|July 28, 2021
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvementFederica Ruscitti, Lucia Trevisan, Giulia Rosti, et al.
Neuromuscular Disorders : NMD|February 21, 2017
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritanceAlessandro Geroldi, Patrizia Lastella, Margherita Patruno, et al.
Neuro-Degenerative Diseases|March 21, 2019
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian PatientsPaola Origone, Alessandro Geroldi, Merit Lamp, et al.
Annals of Human Genetics|April 14, 2020
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?Fabio Gotta, Merit Lamp, Alessandro Geroldi, et al.
Brain Sciences|January 28, 2026
The Inflammatory Side of Iatrogenic Cerebral Amyloid Angiopathy: Rethinking Therapeutic OpportunitiesMattia Losa, Andrea Donniaquio, Ilaria Gandoglia, et al.
Pageof 3