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Neurology. Genetics
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March 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in <i>POLG</i>-Related Mitochondrial Disease
Laura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, et al.
Neuromuscular Disorders : NMD
|
January 23, 2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Ursula Moore, Esther Fernández-Simón, Marianela Schiava, et al.
Frontiers in Neurology
|
January 4, 2021
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, et al.
Neuromuscular Disorders : NMD
|
February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Ursula Moore, Heather Gordish, Jordi Diaz-Manera, et al.
Annals of Neurology
|
May 25, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, et al.
Annals of Clinical and Translational Neurology
|
January 26, 2022
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
Elena Cortés-Vicente, Rodrigo Álvarez-Velasco, Francesc Pla-Junca, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathy
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.
Neurology. Genetics
|
June 9, 2023
Cumulative Genetic Score and
John Dou, Kelly Bakulski, Kai Guo, et al.
Neurology. Genetics
|
July 31, 2023
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
John Dou, Kelly Bakulski, Kai Guo, et al.
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of 9
Search research articles
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Showing results (51-60 of 83) with videos related to
Sort By:
Page
of 9
Neurology. Genetics
|
March 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in <i>POLG</i>-Related Mitochondrial Disease
Laura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez, et al.
Orphanet Journal of Rare Diseases
|
May 8, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, et al.
Neuromuscular Disorders : NMD
|
January 23, 2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Ursula Moore, Esther Fernández-Simón, Marianela Schiava, et al.
Frontiers in Neurology
|
January 4, 2021
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, et al.
Neuromuscular Disorders : NMD
|
February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Ursula Moore, Heather Gordish, Jordi Diaz-Manera, et al.
Annals of Neurology
|
May 25, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, et al.
Annals of Clinical and Translational Neurology
|
January 26, 2022
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
Elena Cortés-Vicente, Rodrigo Álvarez-Velasco, Francesc Pla-Junca, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathy
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.
Neurology. Genetics
|
June 9, 2023
Cumulative Genetic Score and
John Dou, Kelly Bakulski, Kai Guo, et al.
Neurology. Genetics
|
July 31, 2023
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
John Dou, Kelly Bakulski, Kai Guo, et al.
Page
of 9