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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 -
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المؤلفون: Jaume Colomer, L. Gonzalez, M. Alarcón, C. Jimenez Mallebrera, Pia Gallano, A. Frongia, Cristina Jou, J. Corbera, D. Natera, Carlos Ortez, María José Cubillas Rodríguez, A. Codina, Andrés Nascimento, D. Itzep
المصدر: Neuromuscular Disorders. 27:S222
مصطلحات موضوعية: Pathology, medicine.medical_specialty, GMPPB gene, business.industry, Congenital myasthenic syndrome, medicine.disease, Neurology, Cataracts, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), Cognitive impairment, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4320b4e2b870e318662c15d81140b3e6Test
https://doi.org/10.1016/j.nmd.2017.06.459Test -
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المؤلفون: Marc Jeanpierre, María José Cubillas Rodríguez, Jean Kaplan, Jon Andoni Urtizberea, Montserrat Baiget, Carles de Diego, Pia Gallano, Adriana Lasa, F. Piccolo, Jaume Colomer
المصدر: European Journal of Human Genetics. 6:396-399
مصطلحات موضوعية: Male, Roma, Population, Mutation, Missense, Biology, Muscular Dystrophies, Consanguinity, Sarcoglycans, Genetics, medicine, Humans, Missense mutation, Muscular dystrophy, Allele, education, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Transition (genetics), Homozygote, Extremities, medicine.disease, Founder Effect, Pedigree, Cytoskeletal Proteins, Sarcoglycan, Genetics, Population, Phenotype, Mutation (genetic algorithm), Female, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba9d270b7af92e15650472d53139198Test
https://doi.org/10.1038/sj.ejhg.5200197Test -
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المؤلفون: Constantin Lupu, Janina Hantke, Ivailo Tournev, Tamara Rogers, Velina Guergueltcheva, Jaume Colomer, Jon Andoni Urtizberea, Axinia Corches, Luba Kalaydjieva, Lisa French, Luciano Merlini, P. K. Thomas
المصدر: Neuromuscular disorders : NMD. 13(9)
مصطلحات موضوعية: Male, Candidate gene, Genetic Linkage, Biology, Bac clone, Charcot-Marie-Tooth Disease, Databases, Genetic, medicine, Humans, Gene, Genotyping, Genetics (clinical), Sequence (medicine), Genetics, Polymorphism, Genetic, Chromosomes, Human, Pair 10, Chromosome Mapping, medicine.disease, Pedigree, Europe, Phenotype, Neurology, Genetic marker, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Hereditary motor and sensory neuropathy, Hereditary Sensory and Motor Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932c47d3fee0300e48bd16843d526320Test
https://pubmed.ncbi.nlm.nih.gov/14561496Test -
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المؤلفون: Joachim Schessl, M. Roig, J. Corbera, Jaume Colomer, C. Jimenez-Mallabrera, S. Feldkirchner, C. Kubny, Cristina Jou, Andrés Nascimento, Carlos Ortez
المصدر: Neuromuscular Disorders. 21:673
مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), Biology, Emery–Dreifuss muscular dystrophy, medicine.disease, Phenotype, Genetics (clinical), FHL1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5835e9bb16523d7170edd258672e51dTest
https://doi.org/10.1016/j.nmd.2011.06.864Test -
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المؤلفون: Jaume Colomer, Yesim Parman, Rebecca Gooding, Dora Angelicheva, R. H. M. King, Jaume Bertranpetit, Luba Kalaydjieva, David Chandler, L. Marns
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, Neuromuscular disease, Genetic Linkage, Molecular Sequence Data, Population, Biology, Arginine, Electronic Letter, Genetic linkage, SH3TC2, Genetics, medicine, Humans, Child, education, Genetics (clinical), Family Health, education.field_of_study, Base Sequence, Models, Genetic, Haplotype, Intracellular Signaling Peptides and Proteins, Peripheral Nervous System Diseases, Proteins, medicine.disease, Founder Effect, Pedigree, Phenotype, Peripheral neuropathy, Spain, Mutation, Mutation (genetic algorithm), Female, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b054dc2c1001b826acfb1650295f9eTest
https://doi.org/10.1136/jmg.2005.034132Test -
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المؤلفون: Pia Gallano, Adriana Lasa, Jaume Colomer, Montserrat Baiget
المصدر: Europe PubMed Central
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Nonsense mutation, Molecular Sequence Data, Biology, Muscular Dystrophies, Frameshift mutation, Dystrophin, Exon, Genetics, medicine, Humans, Point Mutation, Child, Genetics (clinical), Splice site mutation, Base Sequence, Point mutation, Adenine, Exons, medicine.disease, Stop codon, Mutagenesis, Insertional, Protein Biosynthesis, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f65f09f1687eec45824bbc1e127214Test
http://europepmc.org/abstract/med/8556818Test