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: Encarna Guillén-Navarro, Rosalind H.M. King, Rebecca Gooding, Dora Angelicheva, Andrés Nascimento, Jaume Colomer, Luba Kalaydjieva, Yesim Parman, Joan Conill

المصدر: Neuromuscular Disorders. 16:449-453

مصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, Disease, Biology, Charcot-Marie-Tooth Disease, SH3TC2, Humans, Point Mutation, Age of Onset, First-degree relatives, Child, Genetics (clinical), Genetics, Point mutation, Homozygote, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Middle Aged, Founder Effect, Pedigree, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Age of onset, Polymorphism, Restriction Fragment Length, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cd75b4ec2d9b9ad305c0b48302b2c60Test
https://doi.org/10.1016/j.nmd.2006.05.005Test

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

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

المؤلفون: Angela Abicht, L. Turon, Juliane Müller, Andrés Nascimento, D. Pascual-Vaca, Hanns Lochmüller, Jaume Colomer, Carlos Ortez

المصدر: Neuromuscular Disorders. 18:748-749

مصطلحات موضوعية: Genetics, Limb girdle myasthenia, Neurology, RAPSN gene, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Neurology (clinical), Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::656c836cb8714da2293ddfa5870a67a6Test
https://doi.org/10.1016/j.nmd.2008.06.086Test

المؤلفون: Rebecca Gooding, Yesim Parman, Luba Kalaydjieva, Jaume Colomer, Andrés Nascimento, Dora Angelicheva, Rosalind H.M. King, J. Conill

المصدر: Neuromuscular Disorders. 16:664-665

مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Sh3tc2 gene, In patient, Neurology (clinical), Disease, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b4816c329407604d95172d66fcaf985Test
https://doi.org/10.1016/j.nmd.2006.05.078Test

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

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

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