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 d’Investigació 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

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: 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