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The American Journal of Pathology
|
May 23, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
Ana Carrasco-Rozas, Esther Fernández-Simón, Xavier Suárez-Calvet, et al.
Brain : a Journal of Neurology
|
July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Nature Communications
|
January 3, 2025
Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS)
Delfina Larrea, Kirstin A Tamucci, Khushbu Kabra, et al.
Neuromuscular Disorders : NMD
|
May 30, 2026
Predictors of functional disability in nitrous oxide induced myeloneuropathy: an observational study
Ignacio Lopera-Rodríguez, Alicia Silva-Cátedra, Alexandra Rincón-Valencia, et al.
European Journal of Neurology
|
June 30, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Rafael Sivera, Vincenzo Lupo, Marina Frasquet, et al.
European Journal of Neurology
|
December 9, 2022
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease
Juan F Vázquez-Costa, Daniel Borrego-Hernández, Carmen Paradas, et al.
Neurology. Genetics
|
March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Muscle & Nerve
|
August 2, 2018
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
David GóMez-Andrés, Jordi Díaz-Manera, Aida Alejaldre, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
March 28, 2024
The Iberian Roma Population Variant Server (IRPVS)
Fabiola Mavillard, Javier Perez-Florido, Francisco M Ortuño, et al.
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Search research articles
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Showing results (31-40 of 83) with videos related to
Sort By:
Page
of 9
The American Journal of Pathology
|
May 23, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
Ana Carrasco-Rozas, Esther Fernández-Simón, Xavier Suárez-Calvet, et al.
Brain : a Journal of Neurology
|
July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Nature Communications
|
January 3, 2025
Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS)
Delfina Larrea, Kirstin A Tamucci, Khushbu Kabra, et al.
Neuromuscular Disorders : NMD
|
May 30, 2026
Predictors of functional disability in nitrous oxide induced myeloneuropathy: an observational study
Ignacio Lopera-Rodríguez, Alicia Silva-Cátedra, Alexandra Rincón-Valencia, et al.
European Journal of Neurology
|
June 30, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Rafael Sivera, Vincenzo Lupo, Marina Frasquet, et al.
European Journal of Neurology
|
December 9, 2022
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease
Juan F Vázquez-Costa, Daniel Borrego-Hernández, Carmen Paradas, et al.
Neurology. Genetics
|
March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Neurology
|
June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Macarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
Muscle & Nerve
|
August 2, 2018
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
David GóMez-Andrés, Jordi Díaz-Manera, Aida Alejaldre, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
March 28, 2024
The Iberian Roma Population Variant Server (IRPVS)
Fabiola Mavillard, Javier Perez-Florido, Francisco M Ortuño, et al.
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