نتائج البحث - "Jaume Colomer"

1

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d00ad6d5fbbf5ed1276d00e253cf71dTest
https://doi.org/10.1016/j.nmd.2020.07.009Test

2

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl

المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business

وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test

3

NEUROMUSCULAR JUNCTION RELATED DISORDERS

المؤلفون: Gregorio Nolasco, L. Carrera, Andrés Nascimento, J. Exposito, D. Natera de Benito, Jaume Colomer, M. Botelli, Carlos Ortez

المصدر: Neuromuscular Disorders. 31:S141

مصطلحات موضوعية: medicine.anatomical_structure, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Neuroscience, Genetics (clinical), Neuromuscular junction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98ca8c663e617bc6645cffc8e44e872dTest
https://doi.org/10.1016/j.nmd.2021.07.324Test

4

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

المؤلفون: Loreto Martorell, Julita Medina, Andrés Nascimento, E. Bobadilla, Jaume Colomer, A. Pareja, Carlos Ortez, L. Carrera, J. Corbera, D. Natera, S. Zambudio, V. Sáez, Cristina Jou, A. Bazán, C. Jimenez-Mallebrera, A. Codina, J. Exposito, Delia Yubero

المصدر: Neuromuscular Disorders. 30:S49-S50

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Autophagy, medicine, Distal Myopathies, Neurology (clinical), Disease, Myofibril, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c8a0ca55d961eb50fa954381fb07483dTest
https://doi.org/10.1016/j.nmd.2020.08.014Test

5

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

المؤلفون: M. Vigo, Jaume Colomer, M. Alarcón, Jessica Expósito-Escudero, Laura Carrera-García, Julita Medina, Daniel Cuadras, A. Borras, Loreto Martorell, J. Armas, Carlos Ortez, D. Natera-de Benito, Andrés Nascimento, S. Bernal, O. Moya, A. Frongia, N. Padros

المصدر: NEUROMUSCULAR DISORDERS
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, 0301 basic medicine, Salbutamol, Disease, SMN1, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Oral administration, Orthopedic Procedures, Longitudinal Studies, Prospective Studies, Age of Onset, Child, Side effects, Genetics (clinical), Beta agonists, Adrenergic beta-Agonists, SMA, Hospitalization, Treatment Outcome, medicine.anatomical_structure, Scoliosis, Neurology, Tolerability, Child, Preschool, Anesthesia, Female, medicine.drug, Therapy, Adolescent, Movement, Young Adult, 03 medical and health sciences, medicine, Humans, Albuterol, Motor function, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Spinal cord, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::275b8c6014b16500c6a470883e02e546Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16362Test

6

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Pathology, Protein Conformation, Biopsy, 030105 genetics & heredity, Receptors, Nicotinic, Escobar syndrome, multiple pterygium syndrome, Whole Body Imaging, CHRNG, Genetics (clinical), Arthrogryposis, arthrogryposis, medicine.diagnostic_test, Clinical course, Phenotype, Magnetic Resonance Imaging, medicine.anatomical_structure, Echocardiography, Child, Preschool, whole-body MRI, Female, Multiple pterygium syndrome, medicine.symptom, medicine.medical_specialty, Adolescent, Genotype, Neuromuscular junction, 03 medical and health sciences, Structure-Activity Relationship, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Muscle, Skeletal, Alleles, Genetic Association Studies, Muscle biopsy, business.industry, Magnetic resonance imaging, medicine.disease, Pterygium, 030104 developmental biology, Amino Acid Substitution, Mutation, Skin Abnormalities, business, Malignant Hyperthermia