يعرض 1 - 10 نتائج من 13 نتيجة بحث عن '"Jaume Colomer"', وقت الاستعلام: 0.90s تنقيح النتائج
  1. 1
    Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

    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


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  2. 2
    Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene

    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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  3. 3
    Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

    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


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  4. 4
    Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

    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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  5. 5
    Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map

    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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  6. 6
    M.P.1.06 A heterozygous Rapsyn (RAPSN) gene mutation (N88K) and (S201R), is a cause of progressive Limb Girdle Myasthenia

    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


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  7. 7
    N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

    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


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  8. 8
    P2.42 Cys150Arg FHL1 mutation in two brothers affected by the Emery-Dreifuss muscular dystrophy phenotype

    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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  9. 9
    M.P.1.05 Successful long-term acethylcholinesterase inhibitor therapy in patients affected by Rapsyn (RAPSN) mutation early onset phenotype

    المؤلفون: Andrés Nascimento, Jaume Colomer, C. Jiménez–Mallabrera, L. Turon, M. Pineda, A. García-Ribes, Juliane Müller, J. Mihaylova, Hanns Lochmüller, Carlos Ortez

    المصدر: Neuromuscular Disorders. 18:748

    مصطلحات موضوعية: RAPSN, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, In patient, Neurology (clinical), business, Phenotype, Genetics (clinical), Early onset

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc88820f6843a58cad2749258ff65dd3Test
    https://doi.org/10.1016/j.nmd.2008.06.085Test


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  10. 10
    G.P.10.04 Long term positive response to cholinesterase inhibitors in a patient with DOK7 mutation

    المؤلفون: H. Lochmülller, Jaume Colomer, Andrés Nascimento, J. Corbera, V. Cusi, Juliane Müller

    المصدر: Neuromuscular Disorders. 17:819

    مصطلحات موضوعية: biology, business.industry, Pharmacology, Term (time), Positive response, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Medicine, Neurology (clinical), business, Genetics (clinical), Cholinesterase

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a1bdde5067ef51dbb6c8d0558736ce65Test
    https://doi.org/10.1016/j.nmd.2007.06.194Test


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