Publications by authors named "Jaume Colomer"

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Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].
Laura Carrera-García, Jordi Muchart, Juan José Lazaro, Jessica Expósito-Escudero, Daniel Cuadras, Jaume Colomer

Eur J Paediatr Neurol· March 2022

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Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Daniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, Susana Boronat, Jessica Expósito-Escudero, Jaume Colomer

Pediatr Neurol· June 2021

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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, Carlos Ortez, Minal Jain, Jaume Colomer

Neurology· March 2021

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Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.
Laura Carrera-García, Jordi Muchart, Juan José Lazaro, Jessica Expósito-Escudero, Daniel Cuadras, Jaume Colomer

Eur J Paediatr Neurol· March 2021

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The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Daniel Natera-de Benito, Carlos Ortez, Cristina Jou, Cecilia Jimenez-Mallebrera, Anna Codina, Jaume Colomer

Pediatr Neurol· February 2021

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Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Miroslav P Milev, Daniela Stanga, Anne Schänzer, Andrés Nascimento, Djenann Saint-Dic, Jaume Colomer

Sci Rep· November 2020

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The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.
Rocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, Victoria Gonzalez, Sandra Donkervoort, Jaume Colomer

Neurology· September 2020

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Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Edna Julieth Bobadilla-Quesada, Daniel Natera-de Benito, Laura Carrera-García, Carlos Ortez, Jessica Exposito-Escudero, Jaume Colomer

Neuromuscul Disord· September 2020

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Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Daniel Natera-de Benito, Jordi Muchart, Debora Itzep, Carlos Ortez, Lidia González-Quereda, Jaume Colomer

Epilepsia· May 2020

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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Miroslav P Milev, Daniela Stanga, Anne Schänzer, Andrés Nascimento, Djenann Saint-Dic, Jaume Colomer

Sci Rep· October 2019

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Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Laura Carrera-García, Daniel Natera-de Benito, Cinta Lleixà, Carlos Ortez, Jaume Colomer

Neurol Neuroimmunol Neuroinflamm· September 2019

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CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, Marta G G de la Banda, Adrien Felter, Jaume Colomer

Am J Med Genet A· June 2019

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, Jaume Colomer

Skelet Muscle· July 2018

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Limb girdle muscular dystrophy due to mutations in .
Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Jaume Colomer

J Neurol Neurosurg Psychiatry· May 2018

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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Delia Yubero, Raquel Montero, Miguel A Martín, Julio Montoya, Antonia Ribes, Jaume Colomer

Mitochondrion· September 2016

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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Emily O'Connor, Ana Töpf, Juliane S Müller, Daniel Cox, Teresinha Evangelista, Jaume Colomer

Brain· August 2016

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Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Jaume Colomer

PLoS One· June 2016

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Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.
Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Jaume Colomer

PLoS One· April 2016

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Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
Filipa Rodrigues, Joana Grenha, Carlos Ortez, Andrés Nascimento, Beatriz Morte, Jaume Colomer

BMC Pediatr· October 2014

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Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.
Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Jaume Colomer

PLoS One· June 2014

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Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
Susana Graciela Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznaric, Jaume Colomer

BMC Genomics· February 2014

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Jaume Colomer

PLoS One· December 2013

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[Fractures in spinal muscular atrophy].
Anna Febrer, Meritxell Vigo, Natalia Rodríguez, Julita Medina, Jaume Colomer

Rev Neurol· September 2013

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5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.
Eduardo Calpena, Mercedes Casado, Dolores Martínez-Rubio, Andrés Nascimento, Jaume Colomer

JIMD Rep· February 2013

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[Hypotonia in the neonatal period: 12 years' experience].
Erika Jiménez, Àngels García-Cazorla, Jaume Colomer, Andrés Nascimento, Martín Iriondo

Rev Neurol· January 2013

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