-
11
المؤلفون: A. Santana-Artiles, Angela Abicht, M. Bestué, P.M. Rodriguez Cruz, Grace McMacken, Ana Camacho, Juliane S. Müller, Juan J. Vílchez, Andrés Nascimento, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Marina Dusl, Esther Jiménez, Pia Gallano, A. Paipa Merchan, Teresinha Evangelista, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Carlos Ortez, Montse Olivé, O. García-Campos, Jan Senderek, N. Muelas, J. Diaz-Manera, R. Dominguez-Rubio, D. Natera-de Benito, David Beeson, Jaume Colomer, A. García-Ribes, María Concepción Miranda-Herrero
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
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Feمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Slow-channel syndrome, Adolescent, Neuromuscular transmission, GMPPB, Gene mutation, COLQ, Congenital myasthenic syndrome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, DOK7, medicine, Humans, CHRNE, Gene, Genetics (clinical), health care economics and organizations, Myasthenic Syndromes, Congenital, Genetics, biology, RAPSN, Middle Aged, medicine.disease, Phenotype, 3. Good health, Genetic mutations, 030104 developmental biology, GFPT1, Neurology, Spain, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b967c96669f268f9a18032854a15ab37Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13108Test -
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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 Déuمصطلحات 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 -
13
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 Feمصطلحات 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 -
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المؤلفون: Angela Abicht, Jaume Colomer, Rachel Thompson, Andrés Nascimento, D. Natera-de Benito, Teresinha Evangelista, Ana Töpf, Hanns Lochmüller, Cristina Jou, Carlos Ortez, Juliane S. Müller, Cecilia Jimenez-Mallebrera
المصدر: JOURNAL OF 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
instnameمصطلحات موضوعية: 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Neuromuscular transmission, Neuromuscular junction, Muscle Proteins, KLHL40, Muscle disorder, Myopathies, Nemaline, Congenital myopathies, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, medicine, Humans, Longitudinal Studies, Muscle, Skeletal, Myopathy, Neurologic Examination, Nemaline myopathies, Muscle biopsy, medicine.diagnostic_test, business.industry, Infant, Muscle weakness, medicine.disease, Congenital myasthenic syndromes, Hypotonia, 3. Good health, Acetylcholinesterase inhibitors, 030104 developmental biology, Neurology, Female, Cholinesterase Inhibitors, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e47fc1a4cf23a562c182165aad1410Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8623Test -
15
المؤلفون: Cristina Jou, Julita Medina, M. Vigo, Jaume Colomer, Carlos Ortez, M. Alarcón, C. Jimenez-Mallebrera, A. Codina, Andrés Nascimento, A. Frongia, D. Natera-de Benito
المصدر: Neuromuscular Disorders. 27:S105
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, business.industry, Phenotype, 03 medical and health sciences, 0302 clinical medicine, Neurology, Collagen VI, Pediatrics, Perinatology and Child Health, Medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1335cf50ab6339e3130928415cdcb7aaTest
https://doi.org/10.1016/j.nmd.2017.06.052Test -
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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 -
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المؤلفون: Vedrana Milic Rasic, Juan J. Vílchez, Beril Talim, Rosalind H.M. King, Andrea Müllner-Eidenböck, Toshiyuki Miyata, Ralf Herrmann, Judit Beres, Luciano Merlini, Luba Kalaydjieva, Andoni Urtizberea, Jaume Colomer, Ivailo Tournev, Tomohiko Okuda, Frank Baas, Maggie C. Walter, Veronika Karcagi, Manuela Santos, Hanns Lochmüller, Velina Guergueltcheva
المساهمون: Amsterdam Neuroscience, Neurology, Genome Analysis
المصدر: Neuromuscular disorders, 15(1), 65-71. Elsevier Limited
مصطلحات موضوعية: Gerontology, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Public health, Population, Medizin, University hospital, humanities, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Family medicine, Political science, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Pediatric Neurology, education, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf23317f462441fd58fe65d4a20c5abTest
https://doi.org/10.1016/j.nmd.2004.09.008Test -
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المؤلفون: O. Osorio-Conles, Cristina Jou, Guerau Fernandez, Cecilia Jimenez-Mallebrera, Andrés Nascimento, M. Puigdelloses, Susana G. Kalko, Marta Montori-Grau, Maria Angels Rodríguez, Carlos Ortez, Jaume Colomer
المصدر: Neuromuscular Disorders. 26:S188
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Skeletal muscle, 030209 endocrinology & metabolism, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Collagen VI, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Glucose homeostasis, Neurology (clinical), Endotrophin, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::207598ea86890981521ce984d4655f38Test
https://doi.org/10.1016/j.nmd.2016.06.370Test -
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المؤلفون: Monique M. Ryan, William Reardon, Lionel Van Maldergem, Luitgard Graul-Neumann, Rudolf Korinthenberg, Stanley F. Nelson, Jaume Colomer, Gunnar Houge, Jürgen Seeger, Manuel Schiff, Peter G. Barth, Pavel Seeman, Jan Senderek, Christoph Hübner, Andreas Holzinger, Thomas Eggermann, Knut Brockmann, Janbernd Kirschner, Klaus Zerres, Ulrich Seidel, Joanna C. Jen, Alena Puchmajerová, Maja Steinlin, Sabine Rudnik-Schöneborn, László Sztriha, Francesco Muntoni, Michael Yourshaw
المساهمون: Paediatric Neurology
المصدر: Neurology, 80(5), 438-446. Lippincott Williams and Wilkins
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Genotype, DNA Mutational Analysis, Pontocerebellar hypoplasia, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Olivopontocerebellar atrophy, Gene Frequency, medicine, Humans, Global developmental delay, Child, Cerebellar hypoplasia, Genetic Association Studies, 030304 developmental biology, Family Health, 0303 health sciences, Psychomotor retardation, Exosome Multienzyme Ribonuclease Complex, business.industry, Electromyography, Brain, Infant, RNA-Binding Proteins, Spinal muscular atrophy, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Child, Preschool, Cohort, Mutation, Olivopontocerebellar Atrophies, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e2421b77c878d995d842db3f8a9798Test
https://pubmed.ncbi.nlm.nih.gov/23284070Test -
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المؤلفون: Jaume Campistol, Desiree Henares, Eduardo Ruiz-Pesini, Federico Ramos, Mercedes Pineda, Cecilia Jimenez-Mallebrera, Delia Yubero, Julio Montoya, Francesc Villarroya, Belén Pérez-Dueñas, Mar O'Callaghan, María Angeles Davia Rodríguez, Rafael Artuch, Jaume Colomer Oferil, Marija Meznaric, Angeles Garcia-Cazorla, Andrés Nascimento, Raquel Montero, Carlos Ortez, Sonia Emperador, Susana G. Kalko, Laura Campderrós, Cristina Jou, Joan Villarroya
المساهمون: Universitat de Barcelona
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS One
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
PLoS ONE
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuمصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial Diseases, Muscle Fibers, Skeletal, lcsh:Medicine, Gene Expression, Mitochondrion, Biochemistry, Mitocondris, Cohort Studies, Myoblasts, Mice, Families, 0302 clinical medicine, Medicine and Health Sciences, Myocyte, lcsh:Science, Child, Musculoskeletal System, Children, Energy-Producing Organelles, Multidisciplinary, Muscles, Area under the curve, Neuromuscular Diseases, Mitochondrial DNA, Mitochondria, Nucleic acids, medicine.anatomical_structure, Child, Preschool, embryonic structures, Biomarker (medicine), Female, Cellular Structures and Organelles, Anatomy, Infants, Research Article, medicine.medical_specialty, Growth Differentiation Factor 15, Adolescent, Forms of DNA, Mitochondrial disease, Biology, Bioenergetics, Sensitivity and Specificity, Cell Line, 03 medical and health sciences, Diagnostic Medicine, Internal medicine, medicine, Genetics, Animals, Humans, RNA, Messenger, Muscle, Skeletal, Clinical Genetics, Biology and life sciences, lcsh:R, Skeletal muscle, Infant, Reproducibility of Results, Correction, Proteins, Cell Biology, DNA, medicine.disease, Fibroblast Growth Factors, 030104 developmental biology, Endocrinology, ROC Curve, Skeletal Muscles, Age Groups, Case-Control Studies, People and Places, Mutation, lcsh:Q, Population Groupings, GDF15, Proteïnes, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::551ab159e363f87dbeac3cd0e9697fabTest
http://hdl.handle.net/2445/104493Test