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1دورية أكاديمية
المؤلفون: Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni
المصدر: PLoS ONE, Vol 5, Iss 12, p e14434 (2010)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3010994?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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2دورية أكاديمية
المؤلفون: Martin Brockington, Silvia Torelli, Paola Pr, Chiara Boito, Nazanin F. Dolatshad, Cheryl Longman, Susan C. Brown, Francesco Muntoni
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Cheryl Longman, Martin Brockington, Silvia Torelli, Cecilia Jimenez-mallebrera, Colin Kennedy, Nofal Khalil, Lucy Feng, Ravindra K. Saran, Thomas Voit, Luciano Merlini, Caroline A. Sewry, Susan C. Brown, Francesco Muntoni
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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4
المؤلفون: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington
المصدر: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851 <http://dx.doi.org/10.1093/hmg/10.25.2851Test>
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Blotting, Western, 610 Medicine & health, Polymerase Chain Reaction, Muscular Dystrophies, Muscle hypertrophy, Immunoenzyme Techniques, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Pentosyltransferases, Age of Onset, Muscular dystrophy, Child, Dystroglycans, Walker–Warburg syndrome, Molecular Biology, Genetics (clinical), DNA Primers, Membrane Glycoproteins, Fukutin-related protein, biology, Calpain, Infant, Proteins, General Medicine, Middle Aged, medicine.disease, Fukutin, Pedigree, Cytoskeletal Proteins, Phenotype, Haplotypes, Child, Preschool, Mutation, biology.protein, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 19, Microsatellite Repeats, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74cTest
http://doc.rero.ch/record/297949/files/dde309.pdfTest -
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المؤلفون: Silvia Torelli, Martin Brockington, Francesco Muntoni
المصدر: Neurotherapeutics. 5:627-632
مصطلحات موضوعية: musculoskeletal diseases, Glycosylation, Review Article, Abnormal glycosylation, medicine, Dystroglycan, Animals, Humans, Myotonic Dystrophy, Pharmacology (medical), Muscular dystrophy, Dystroglycans, Walker–Warburg syndrome, Laminin binding, Pharmacology, Genetics, Fukutin-related protein, biology, fungi, medicine.disease, Fukutin, Gene Expression Regulation, Mutation, biology.protein, Congenital muscular dystrophy, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4baafcd294ac0f5516e5609610348c9cTest
https://doi.org/10.1016/j.nurt.2008.08.005Test -
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المؤلفون: Haluk Topaloglu, Lucy Feng, Kate Bushby, Beril Talim, Adnan Y. Manzur, Cecilia Jimenez-Mallebrera, Volker Straub, Emma Clement, Caroline Godfrey, Caroline Sewry, Stephen Abbs, Susan C. Brown, Martin Brockington, R. Mein, Maria Kinali, Kathryn N. North, Ros Quinlivan, Francesco Muntoni, Stephanie Robb, Eugenio Mercuri, Janine Smith, Silvia Torelli
المساهمون: Çocuk Sağlığı ve Hastalıkları
المصدر: Brain. 130:2725-2735
مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, N-Acetylglucosaminyltransferases, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, Cohort Studies, Fukuyama congenital muscular dystrophy, medicine, Humans, Dystroglycans, Walker–Warburg syndrome, Genetics, Mutation, Fukutin-related protein, biology, fungi, Infant, Membrane Proteins, medicine.disease, Fukutin, Phenotype, Muscular Dystrophies, Limb-Girdle, Child, Preschool, biology.protein, Congenital muscular dystrophy, Neurosciences & Neurology, Neurology (clinical), Limb-girdle muscular dystrophy
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5452be7361520603c22445d4c86b16f5Test
https://doi.org/10.1093/brain/awm212Test -
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المؤلفون: Volker Straub, Haiyan Zhou, Thomas Voit, Martin Brockington, Caroline Sewry, Cheryl Longman, B. Halliger-Keller, Clemens R. Müller, Stephanie A. Robb, Heinz Jungbluth, Graeme M. Bydder, Ana Ferreiro, Louise Hartley, Michael Swash, Sonia Messina, Francesco Muntoni
المصدر: Neurology. 65:1930-1935
مصطلحات موضوعية: Adult, Genetic Markers, medicine.medical_specialty, Pathology, Adolescent, Biopsy, DNA Mutational Analysis, Muscle Fibers, Skeletal, Medizin, Biology, Muscular Diseases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Muscle, Skeletal, education, Myopathy, Minicore myopathy, RYR1, education.field_of_study, Ligaments, Muscle Weakness, Ophthalmoplegia, Muscle biopsy, Selenoprotein N, medicine.diagnostic_test, External ophthalmoplegia, Ryanodine Receptor Calcium Release Channel, Syndrome, Middle Aged, musculoskeletal system, medicine.disease, Congenital myopathy, Pedigree, Muscular Atrophy, Endocrinology, Haplotypes, Oculomotor Muscles, Mutation, Neurology (clinical), medicine.symptom, Chromosomes, Human, Pair 19, Central core disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::819355dfb2b1adf795278a47bbbf3383Test
https://doi.org/10.1212/01.wnl.0000188870.37076.f2Test -
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المؤلفون: Ulla M. Wewer, Norma B. Romero, David P.H. Jones, Martin Brockington, Lucy Feng, Ichizo Nishino, N Dolatshad, Susan C. Brown, Luciano Merlini, L. Skordis, C Jimenez, Francesco Muntoni, Caroline Sewry, Satoru Noguchi, Silvia Torelli, Thomas Voit
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 Déuمصطلحات موضوعية: Blotting, Western, Medizin, Golgi Apparatus, fukutin related protein, Autoantigens, Muscular Dystrophies, Cell Line, Desmin, Myoblasts, Mice, Neuroblastoma, Fetus, Fukuyama congenital muscular dystrophy, medicine, Dystroglycan, Animals, Humans, Pentosyltransferases, Muscle, Skeletal, limb girdle muscular dystrophy, Genetics (clinical), Cardiac muscle cell, Neurons, congenital muscular dystrophy, Fukutin-related protein, biology, Myogenesis, Membrane Proteins, Proteins, Skeletal muscle, medicine.disease, Immunohistochemistry, Rats, Cell biology, medicine.anatomical_structure, Neurology, Biochemistry, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Congenital muscular dystrophy, Neurology (clinical), Subcellular Fractions, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdf9d572c418a1cb984f443fc2bca39Test
https://doi.org/10.1016/j.nmd.2005.09.004Test -
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المؤلفون: U Wever, L Skordis, Francesco Muntoni, Martin Brockington, Dominic J. Wells, Silvia Torelli, N F Dolatshad, Susan C. Brown
المصدر: Experimental Cell Research. 309:370-378
مصطلحات موضوعية: Male, Muscle Fibers, Skeletal, Transfection, Muscular Dystrophies, Myoblasts, Mice, symbols.namesake, Transferases, Chlorocebus aethiops, medicine, Animals, Humans, Myocyte, Pentosyltransferases, Muscle, Skeletal, Genetics, Mice, Inbred BALB C, Fukutin-related protein, biology, Myogenesis, Endoplasmic reticulum, Wild type, Proteins, Cell Biology, Golgi apparatus, medicine.disease, Immunohistochemistry, Molecular biology, COS Cells, Mutation, Mice, Inbred CBA, symbols, biology.protein, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce8d335bc8e531b37f27075d3fa7c86eTest
https://doi.org/10.1016/j.yexcr.2005.06.017Test -
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المؤلفون: Kate Bushby, Haluk Topaloglu, L. Sagi, C. Longman, Richard S. Houlston, Martin Brockington, Ibrahim Mahjneh, Gabrielle S. Sellick, Francesco Muntoni
المصدر: Human Genetics. 117:207-212
مصطلحات موضوعية: Male, Quantitative Trait Loci, Chromosome Disorders, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Muscular Dystrophies, Gene mapping, Genetics, medicine, Humans, Muscular dystrophy, Myopathy, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Muscle contracture, Chromosome Mapping, Middle Aged, medicine.disease, Hypotonia, Pedigree, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 4, Lod Score, medicine.symptom, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::571db446b956255ee4468484d96d5173Test
https://doi.org/10.1007/s00439-005-1301-4Test