Jaume Colomer

Hospital Sant Joan de Déu Barcelona — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.4kcitations53works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(34), Mitochondrial Function and Pathology(13), Cardiomyopathy and Myosin Studies(9), Genetic Neurodegenerative Diseases(8), Metabolism and Genetic Disorders(6)

Publications53 total

Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients
Journal of Comparative Effectiveness Research·2021· 58 citedOpen Access
NEUROMUSCULAR JUNCTION RELATED DISORDERS
Neuromuscular Disorders·2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Neurology·2021· 27 citedOpen Access
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy
Neurology·2020· 67 citedOpen Access
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine·2020· 105 citedOpen Access
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
Scientific Reports·2019· 19 citedOpen Access
P.176Limb-girdle muscular dystrophies (LGMD) C, D and E: long term clinical follow up, anatomopathological and molecular genetic study of in a cohort of 35 pediatric patients
Neuromuscular Disorders·2019
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
Neurology·2018· 15 citedOpen Access
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
Skeletal Muscle·2018· 53 citedOpen Access
Additional file 1: of 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
Figshare·2018Open Access
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>
Journal of Neurology Neurosurgery & Psychiatry·2017· 29 cited
RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypes
Neuromuscular Disorders·2017
Clinical and genetic characterization of collagen VI-related myopathies: difficulties in phenotypic characterization in the first years of life
Neuromuscular Disorders·2017· 1 cited
Molecular characterization of congenital myasthenic syndromes in Spain
Neuromuscular Disorders·2017· 77 cited
Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy
Neuromuscular Disorders·2016· 1 cited
Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing
Neuromuscular Disorders·2016
Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion·2016· 77 cited
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
Journal of Neurology·2016· 38 cited
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
PLoS ONE·2015· 28 citedOpen Access
Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
PLoS ONE·2015Open Access
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Frequent Co-authors

A. Nascimento(29), C. Jimenez‐Mallebrera(22), C. Ortez(18), Cristina Jou(18), P. Gallano(14), Volker Straub(11), J. Corbera(9), Ana Töpf(8), Lidia González‐Quereda(8), Daniel Natera‐de Benito(8), Sonia Paco(8), Montse Olivé(7), Eloy Rivas(7), Juan J. Vílchez(6), Shahriar Nafissi(6), Maja von der Hagen(6), Katherine Johnson(6), Jordi Díaz‐Manera(6), Montserrat Baiget(6), Nuria Muelas(5)