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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86830f9eea863686abc9710a8780b214Test
https://doi.org/10.1016/j.ejpn.2021.02.009Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c89ae85b88c39ebcdb61b0d595ef6f7Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18651Test

المؤلفون: José C. Milisenda, Margaret Fink, M. Vigo, Tracy Ogata, Raul Dominguez-Rubio, Jessica Expósito-Escudero, Andrés Nascimento, Jaume Colomer, Sandra Donkervoort, Minal Jain, Cristina Domínguez-González, Daniel Cuadras, Cristina Jou, Katherine G. Meilleur, A. Reghan Foley, Julita Medina, Jahannaz Dastgir, Aron Mebrahtu, Macarena Alarcon, Carsten G. Bönnemann, M. Leach, Carlos Ortez, Laura Carrera-García, Montse Olivé, Elena Montiel-Morillo, Pomi Yun, Cecilia Jimenez-Mallebrera, Daniel Natera-de Benito, Jordi Díaz-Manera, Ying Hu

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ece0bd2159d6abc77253e8362a3a18bTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18726Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785Test
https://pubmed.ncbi.nlm.nih.gov/33894639Test

المؤلفون: Francesc Palau, Daniel Natera-de Benito, Alexis Arzimanoglou, Javier Aparicio, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Cecilia Jimenez-Mallebrera, Cristina Jou, Pia Gallano, Jaume Colomer, A. Codina, Nathalia Pardo Cardozo, Andrés Nascimento, Carlos Ortez, D. Itzep, Jessica Expósito-Escudero, Daniel Cuadras, Victoria San Antonio-Arce, Jordi Muchart, Laura Carrera-García, Alia Ramirez

المصدر: Epilepsia
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
EPILEPSIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, MDC1A, Electroencephalography, Muscular Dystrophies, Epilepsy, 0302 clinical medicine, Polymicrogyria, merosin, EEG, Age of Onset, Muscular dystrophy, Child, seizures, medicine.diagnostic_test, Brain, LAMA2, epilepsy, Magnetic Resonance Imaging, Phenotype, Neurology, Child, Preschool, Vomiting, Anticonvulsants, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Neuroimaging, Young Adult, 03 medical and health sciences, medicine, Humans, Muscle biopsy, Electromyography, business.industry, Infant, medicine.disease, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c1ebcf6342c2db7adcde2efd670043Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17575Test

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

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' 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, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: D. Natera-de Benito, Andrés Nascimento, Juan J. Vílchez, Nuria Muelas, Carlos Ortez, Teresa Jaijo, J. Domínguez-Carral, Jaume Colomer, R. Arteaga

المصدر: NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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, Pediatrics, Roma, Acetylcholine receptor, Neuromuscular junction, Pyridostigmine, Disease, Receptors, Nicotinic, 0302 clinical medicine, CHRNE, Child, Genetics (clinical), Genetics, Facial weakness, Congenital myasthenic syndrome, Middle Aged, Phenotype, Neurology, Mutation (genetic algorithm), Congenital myasthenia, Female, medicine.symptom, Adult, medicine.medical_specialty, Neck muscle weakness, Adolescent, Biology, 03 medical and health sciences, Young Adult, 3,4-Diaminopyridine, medicine, Humans, Family, Allele, Founder mutation, Myasthenic Syndromes, Congenital, Roma gypsies, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Spain, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbc0b1a1b7a90461d7028b21e6fad9cTest
https://pubmed.ncbi.nlm.nih.gov/27634344Test

المؤلفون: Jaume Colomer, Angela Abicht, M.J. Trujillo-Tiebas, Juan J. Vílchez, D. Natera-de Benito, A. García-Ribes, M. Bestué, Andrés Nascimento, M. García-Hoyos, Teresinha Evangelista, Hanns Lochmüller, Ana Camacho, Marina Dusl, Esther Jiménez, Ana Töpf, Carlos Ortez

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
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, 3,4-diaminopyridine, Muscle Proteins, Neuromuscular junction, medicine.disease_cause, 0302 clinical medicine, Ptosis, Young adult, 4-Aminopyridine, Child, Genetics (clinical), Pyridostigmine, Rapsyn, Mutation, Congenital myasthenic syndrome, Middle Aged, 3. Good health, RAPSN, medicine.anatomical_structure, Phenotype, Neurology, Child, Preschool, Disease Progression, Female, medicine.symptom, Amifampridine, Pyridostigmine Bromide, Adult, medicine.medical_specialty, Proximal muscle weakness, Neck muscle weakness, Adolescent, 03 medical and health sciences, Young Adult, Congenital myasthenia, Internal medicine, medicine, Potassium Channel Blockers, Humans, Myasthenic Syndromes, Congenital, business.industry, medicine.disease, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Cholinesterase Inhibitors, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56227f85b1e955c528e8798d019d8e91Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8976Test

المؤلفون: Friederike Hoellen, Gerhard Kurlemann, Agnes Herczegfalvi, Mohammad M. Kabiraj, Enrico Bertini, Juan J. Vílchez, Mustafa A. Salih, Adele D'Amico, Joachim Wölfle, Angela Abicht, Dana Siskova, Vedrana Milic Rasic, Jaume Colomer, Katarina Fabriciova, Juliane S. Müller, Ulrike Schara, Hanns Lochmüller, V. Mihaylova, Felix Schreiner, Bernhard Weschke, Rosana Herminia Scola

المصدر: Brain. 131:747-759

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Eye Movements, Genotype, Biopsy, Medizin, Neuromuscular transmission, Action Potentials, Muscle Proteins, Angiotensin-Converting Enzyme Inhibitors, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, COLQ, medicine, Humans, CHRNE, Age of Onset, Child, Muscle, Skeletal, 030304 developmental biology, Myasthenic Syndromes, Congenital, 0303 health sciences, biology, Infant, Newborn, Genetic disorder, Infant, Congenital myasthenic syndrome, medicine.disease, Acetylcholinesterase, Electric Stimulation, Myasthenia gravis, 3. Good health, Phenotype, Treatment Outcome, chemistry, Child, Preschool, Mutation, biology.protein, Female, Collagen, Neurology (clinical), Esterase inhibitor, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9eae3970323ff8f8f2325160399063Test
https://doi.org/10.1093/brain/awm325Test