Jaume Colomer

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 35 publications

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].

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].

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 25, 2021

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Journal: Scientific reports

Published: November 11, 2020

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Journal: Pediatric neurology

Published: November 09, 2020

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 15, 2020

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Journal: Neurology

Published: August 24, 2020

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

Journal: Pediatric neurology

Published: July 31, 2020

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.

Journal: Neuromuscular disorders : NMD

Published: April 15, 2020

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Journal: Neurology

Published: December 09, 2019

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.

Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.

Journal: Epilepsia

Published: November 14, 2019

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: April 12, 2019

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Journal: Scientific reports

Published: April 10, 2019

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Journal: American journal of medical genetics. Part A

Published: November 27, 2018

Showing 1-12 of 35

Last Updated: 09/26/2026