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Mitochondrion
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April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Michelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
International Journal of Molecular Sciences
|
June 2, 2021
Novel <i>KCND3</i> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K<sub>V</sub>4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, et al.
Scientific Reports
|
August 7, 2024
Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study
Marco Luigetti, Francesca Vitali, Angela Romano, et al.
European Journal of Neurology
|
January 16, 2024
Hospital admissions from the emergency department of adult patients affected by myopathies
Mauro Monforte, Eleonora Torchia, Sara Bortolani, et al.
Genes
|
August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1
Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia
Michela Cicchinelli, Guido Primiano, Francesca Canu, et al.
Brain Communications
|
December 8, 2025
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy
Alessandra Rufa, Domenico Plantone, Alessia Bargagli, et al.
Frontiers in Neurology
|
July 3, 2019
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report
Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, et al.
Clinical Genetics
|
December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
Claudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
European Journal of Neurology
|
October 28, 2021
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia
Valentina Damato, Claudia Papi, Gregorio Spagni, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 84) with videos related to
Sort By:
Page
of 9
Mitochondrion
|
April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Michelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.
International Journal of Molecular Sciences
|
June 2, 2021
Novel <i>KCND3</i> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K<sub>V</sub>4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, et al.
Scientific Reports
|
August 7, 2024
Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study
Marco Luigetti, Francesca Vitali, Angela Romano, et al.
European Journal of Neurology
|
January 16, 2024
Hospital admissions from the emergency department of adult patients affected by myopathies
Mauro Monforte, Eleonora Torchia, Sara Bortolani, et al.
Genes
|
August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1
Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia
Michela Cicchinelli, Guido Primiano, Francesca Canu, et al.
Brain Communications
|
December 8, 2025
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy
Alessandra Rufa, Domenico Plantone, Alessia Bargagli, et al.
Frontiers in Neurology
|
July 3, 2019
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report
Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, et al.
Clinical Genetics
|
December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
Claudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
European Journal of Neurology
|
October 28, 2021
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia
Valentina Damato, Claudia Papi, Gregorio Spagni, et al.
Page
of 9