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International Journal of Molecular Sciences
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January 11, 2025
Novel <i>KCNQ2</i> Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies
Mariagrazia Talarico, Radha Procopio, Monica Gagliardi, et al.
Genes
|
November 27, 2024
Two Novel Variants in the <i>CHRNA2</i> and <i>SCN2A</i> Genes in Italian Patients with Febrile Seizures
Radha Procopio, Monica Gagliardi, Mariagrazia Talarico, et al.
Neurobiology of Aging
|
February 24, 2023
ANXA1 mutation analysis in Italian patients with early onset PD
Monica Gagliardi, Radha Procopio, Mariagrazia Talarico, et al.
The FEBS Journal
|
January 20, 2019
Selectivity of the CUBAN domain in the recognition of ubiquitin and NEDD8
Luisa Castagnoli, Walter Mandaliti, Ridvan Nepravishta, et al.
Parkinsonism & Related Disorders
|
August 23, 2025
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease
Monica Gagliardi, Maurizio Morelli, Gennarina Arabia, et al.
Parkinsonism & Related Disorders
|
February 21, 2026
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant
Giuseppe Pedullà, Maurizio Morelli, Paola Soliveri, et al.
Journal of the Neurological Sciences
|
October 10, 2017
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, et al.
Journal of the Neurological Sciences
|
December 20, 2017
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, et al.
Heliyon
|
July 12, 2019
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome
Giuseppe Bonapace, Rosa Gullace, Daniela Concolino, et al.
Genes
|
August 28, 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the <i>TTR</i> P.Val142Ile Variant in a Calabrian Kindred
Francesca Dinatolo, Radha Procopio, Valentina Rocca, et al.
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Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
International Journal of Molecular Sciences
|
January 11, 2025
Novel <i>KCNQ2</i> Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies
Mariagrazia Talarico, Radha Procopio, Monica Gagliardi, et al.
Genes
|
November 27, 2024
Two Novel Variants in the <i>CHRNA2</i> and <i>SCN2A</i> Genes in Italian Patients with Febrile Seizures
Radha Procopio, Monica Gagliardi, Mariagrazia Talarico, et al.
Neurobiology of Aging
|
February 24, 2023
ANXA1 mutation analysis in Italian patients with early onset PD
Monica Gagliardi, Radha Procopio, Mariagrazia Talarico, et al.
The FEBS Journal
|
January 20, 2019
Selectivity of the CUBAN domain in the recognition of ubiquitin and NEDD8
Luisa Castagnoli, Walter Mandaliti, Ridvan Nepravishta, et al.
Parkinsonism & Related Disorders
|
August 23, 2025
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease
Monica Gagliardi, Maurizio Morelli, Gennarina Arabia, et al.
Parkinsonism & Related Disorders
|
February 21, 2026
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant
Giuseppe Pedullà, Maurizio Morelli, Paola Soliveri, et al.
Journal of the Neurological Sciences
|
October 10, 2017
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, et al.
Journal of the Neurological Sciences
|
December 20, 2017
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]
Grazia Iannello, Claudio Graziano, Giovanna Cenacchi, et al.
Heliyon
|
July 12, 2019
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome
Giuseppe Bonapace, Rosa Gullace, Daniela Concolino, et al.
Genes
|
August 28, 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the <i>TTR</i> P.Val142Ile Variant in a Calabrian Kindred
Francesca Dinatolo, Radha Procopio, Valentina Rocca, et al.
Page
of 4