نتائج البحث - "Jaume Colomer"

1

دورية أكاديمية

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

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13395-018-0170-1; https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4

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2

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

المؤلفون: Julita Medina, Jessica Expósito-Escudero, Andrés Nascimento, Cecilia Jimenez-Mallebrera, Laura Carrera-García, Juan José Lazaro, Daniel Cuadras, Carlos Ortez, Magda Bosch de Basea, Daniel Natera-de Benito, Jordi Muchart, Jaume Colomer

المصدر: European Journal of Paediatric Neurology. 31:92-101

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Oligonucleotides, Scoliosis, Radiography, Interventional, Neurosurgical Procedures, Muscular Atrophy, Spinal, 03 medical and health sciences, Imaging, Three-Dimensional, 0302 clinical medicine, Lumbar, 030225 pediatrics, Humans, Medicine, Child, Injections, Spinal, Cobb angle, medicine.diagnostic_test, business.industry, Lumbar puncture, Decision Trees, Infant, General Medicine, Spinal muscular atrophy, medicine.disease, SMA, Surgery, Spinal anatomy, Child, Preschool, Pediatrics, Perinatology and Child Health, Feasibility Studies, Female, Nusinersen, Neurology (clinical), Tomography, X-Ray Computed, business, Algorithms, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86830f9eea863686abc9710a8780b214
https://doi.org/10.1016/j.ejpn.2021.02.009

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3

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

المؤلفون: Jessica Expósito-Escudero, Cristina Jou, J. Corbera, Daniel Cuadras, Obdulia Moya, Julita Medina, Daniel Natera-de Benito, Veronica Saez, Jaume Colomer, Lidia Gonzalez-Quereda, Edna Julieth Bobadilla-Quesada, María Eugenia Yoldi, Cecilia Jimenez-Mallebrera, Pia Gallano, Carlos Ortez, Laura Carrera-García, Andrés Nascimento, A. Codina

المصدر: NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Scoliosis, Disease, Muscular Dystrophies, Congenital myasthenic syndrome, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Term effect, In patient, Muscular dystrophy, Dystroglycans, Genetics (clinical), Pyridostigmine, Myasthenic Syndromes, Congenital, business.industry, medicine.disease, Nucleotidyltransferases, Response to treatment, Dystroglycanopathy, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, Female, Gmppb, Neurology (clinical), business, Motor functional scales, 030217 neurology & neurosurgery, Pyridostigmine Bromide, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d00ad6d5fbbf5ed1276d00e253cf71d
https://doi.org/10.1016/j.nmd.2020.07.009

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4

دورية أكاديمية

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

المصدر: PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4750949?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/30b50934a31046c69010ef0f87d1343d

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5

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]

المؤلفون: Magda Bosch de Basea, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Juan José Lazaro, Cecilia Jimenez-Mallebrera, Jessica Expósito-Escudero, Jordi Muchart, Daniel Cuadras, Julita Medina, Jaume Colomer, Laura Carrera-García

المصدر: European Journal of Paediatric Neurology. 37:167-168

مصطلحات موضوعية: business.industry, Spinal anatomy, Decision tree learning, Pediatrics, Perinatology and Child Health, Medicine, Nusinersen, Neurology (clinical), General Medicine, Anatomy, business, SMA, Administration (government)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::40a82f3a19215613e4ce24042f7f3b19
https://doi.org/10.1016/j.ejpn.2021.04.001

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6

دورية أكاديمية

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.

المؤلفون: Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera

المصدر: PLoS ONE, Vol 10, Iss 5, p e0128614 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4431837?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/607b24e159384b6fa409b4b677c1bd01

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7

دورية أكاديمية

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.

المؤلفون: Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G Kalko, Cecilia Jimenez-Mallebrera

المصدر: PLoS ONE, Vol 10, Iss 12, p e0145107 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4686057?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/1e761410602c489094dc77afc19dbdbc

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8

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

المؤلفون: Loreto Martorell, Sergi Cesar, Daniel Cuadras, Cristina Jou, Jessica Expósito-Escudero, Daniel Natera-de Benito, A. Codina, Carlos Ortez, Cecilia Jimenez-Mallebrera, Pia Gallano, Delia Yubero, Andrés Nascimento, Laura Carrera-García, Francesc Palau, Jaume Colomer, Lidia Gonzalez-Quereda

المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Male, Next-generation sequencing, Single Center, 0302 clinical medicine, Fibrosis, Medicine, Molecular genetics, Age of Onset, Child, Congenital myopathy, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Phenotype, Neurology, Child, Preschool, Cohort, Female, Muscle biopsy, medicine.symptom, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Genotype, Natural history, Scoliosis, Young Adult, 03 medical and health sciences, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Humans, Muscle, Skeletal, Myopathy, Retrospective Studies, business.industry, Genetic heterogeneity, Infant, medicine.disease, Cross-Sectional Studies, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c89ae85b88c39ebcdb61b0d595ef6f7
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18651

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9

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

المصدر: Neurology
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Ullrich congenital muscular dystrophy, Collagen Type VI, Kaplan-Meier Estimate, Walking, Muscular Dystrophies, Article, Pulmonary function testing, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Humans, Young adult, Association (psychology), Child, Lung, Aged, Retrospective Studies, business.industry, Bethlem myopathy, Retrospective cohort study, Middle Aged, medicine.disease, United States, Term (time), Respiratory Function Tests, Clinical trial, 030104 developmental biology, Treatment Outcome, Spain, Child, Preschool, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Psychomotor Performance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ece0bd2159d6abc77253e8362a3a18b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18726

10

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

المؤلفون: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García

المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP7A, Occipital horn syndrome, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Distal hereditary motor neuropathy, ATP7B, Medicine, Humans, Expressivity (genetics), Child, Mutation, Portugal, Região Autónoma da Madeira, business.industry, Copper toxicity, Copper replacement therapy, medicine.disease, Phenotype, Pedigree, ATP7A Gene, Endocrinology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Ehlers-Danlos Syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery, Copper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785
https://pubmed.ncbi.nlm.nih.gov/33894639

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