Publicaciones
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Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Nº de citas: 7
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Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
PEDIATRIC NEUROLOGY . 119: 40-44. Nº de citas: 3
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Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Exposito-Escudero JM, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Neurology . 96(10): 1413-1424. Nº de citas: 9
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Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de citas: 8
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de citas: 7
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Nº de citas: 11
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Frongia AL, Natera-de Benito D, Ortez-Gonzalez CI, Alarcón M, Borrás A, Medina J, Vigo-Morancho M, Padrós N, Moya O, Armas J, Carrera-García L, Exposito-Escudero JM, Cuadras-Palleja D, Bernal S, Martorell-Sampol L, Colomer J and Nascimento-Osorio A.
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
NEUROMUSCULAR DISORDERS . 29(7): 517-524. Nº de citas: 11
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Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de citas: 12
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Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Journal of neuromuscular diseases . : .