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European Journal of Human Genetics : EJHG
|
February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Neurology
|
January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Daniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
Journal of Neurology
|
October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
Velina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
American Journal of Human Genetics
|
February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
Jan Senderek, Juliane S Müller, Marina Dusl, et al.
Acta Neuropathologica
|
February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
Annals of Neurology
|
September 14, 2020
Clinical Variability in Spinal Muscular Atrophy Type III
Giorgia Coratti, Sonia Messina, Simona Lucibello, et al.
Journal of Neuromuscular Diseases
|
July 29, 2025
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, et al.
The Journal of Experimental Medicine
|
April 24, 2026
IgD from atypical-like memory B cells and plasma cells targets commensal and environmental antigens
Roser Tachó-Piñot, Habib Bashour, Martyna Filipska, et al.
Molecular Genetics and Metabolism
|
August 6, 2019
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Esther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Neurology
|
January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Daniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
Journal of Neurology
|
October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
Velina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
American Journal of Human Genetics
|
February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
Jan Senderek, Juliane S Müller, Marina Dusl, et al.
Acta Neuropathologica
|
February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
Annals of Neurology
|
September 14, 2020
Clinical Variability in Spinal Muscular Atrophy Type III
Giorgia Coratti, Sonia Messina, Simona Lucibello, et al.
Journal of Neuromuscular Diseases
|
July 29, 2025
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, et al.
The Journal of Experimental Medicine
|
April 24, 2026
IgD from atypical-like memory B cells and plasma cells targets commensal and environmental antigens
Roser Tachó-Piñot, Habib Bashour, Martyna Filipska, et al.
Molecular Genetics and Metabolism
|
August 6, 2019
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Esther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, et al.
Page
of 6