-
1
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 -
2دورية أكاديمية
المؤلفون: Dincer, P., Balci, B., Y. Yuva, Talim, B., Brockington, M., Dincel, D., Torelli, S., Sue, B. B., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H.
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: α-dystroglycan, Autosomal Recessive Limb Girdle Muscular Dystrophy, Lgmd2, Mental Retardation, Microcephaly
وصف الملف: application/pdf
العلاقة: http://dx.doi.org/10.1016/S0960-8966Test(03)00161-5; Dinçer, P., Balcı, B., Yuva, Y., Talim, B., Brockington, M., Dinçel, D., . & Gerçeker, F. Ö. (2003). A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan. Neuromuscular Disorders, 13(10), 771-778.; http://hdl.handle.net/11693/11315Test
الإتاحة: https://doi.org/10.1016/S0960-8966Test(03)00161-5
http://hdl.handle.net/11693/11315Test -
3
المؤلفون: D Hilton Jones, Cheryl Longman, Y Yuva, Matthew Wright, Francesco Muntoni, AK Lampe, Thomas Voit, Caroline Sewry, Eugenio Mercuri, Volker Straub, Martin Brockington, S Brown, Kate Bushby, Carsten G. Bönnemann, Ingrid Hausser, Maria Kinali
المصدر: Neuropediatrics. 35:224-229
مصطلحات موضوعية: Adult, Joint Instability, medicine.medical_specialty, Contracture, Adolescent, Medizin, Short stature, Muscular Dystrophies, Distal joint laxity, Collagen VI, Intellectual Disability, Humans, Medicine, Muscular dystrophy, Child, Muscle contracture, business.industry, General Medicine, medicine.disease, Body Height, Early respiratory failure, Pedigree, Surgery, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Spinal Diseases, Neurology (clinical), medicine.symptom, Respiratory Insufficiency, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb000721a7fabe66e882a8b623cb489fTest
https://doi.org/10.1055/s-2004-821084Test -
4
المؤلفون: Caroline Sewry, Lucy Feng, Y Yuva, Martin Brockington, Kate Bushby, Kevin M. Flanigan, Susan C. Brown, AK Lampe, Cecilia Jimenez-Mallebrera, Francesco Muntoni
المصدر: Prenatal diagnosis. 24(6)
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Ullrich congenital muscular dystrophy, Genetic Linkage, DNA Mutational Analysis, Chorionic villus sampling, Prenatal diagnosis, Collagen Type VI, Muscular Dystrophies, Consanguinity, Genetic linkage, Collagen VI, Pregnancy, Prenatal Diagnosis, Medicine, Humans, Muscle, Skeletal, Genetics (clinical), Fetus, medicine.diagnostic_test, business.industry, Haplotype, Obstetrics and Gynecology, medicine.disease, Immunohistochemistry, Pedigree, Chorionic Villi Sampling, Haplotypes, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c5a6e83ed25316f5818cae7f684b9dTest
https://pubmed.ncbi.nlm.nih.gov/15229843Test -
5
المؤلفون: Y Yuva, Goknur Haliloglu, Filiz Ozbaş Gerçeker, Haluk Topaloglu, Deniz Dinçel, Susan C. Brown, Martin Brockington, Pervin Dinçer, Rengul Cetin Atalay, Beril Talim, Gülsev Kale, Cheryl Longman, Francesco Muntoni, Cengiz Yakicier, Silvia Torelli, Burcu Balci
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: Male, Pathology, Microcephaly, Turkey, DNA Mutational Analysis, Muscle Proteins, Muscular Dystrophies, immunocytochemistry, Mental Retardation, Laminin, Muscular dystrophy, Age of Onset, Child, Dystroglycans, Genetics (clinical), limb girdle muscular dystrophy, clinical article, Membrane Glycoproteins, biology, quantitative analysis, Genetic Screening, adult, article, imaging, Brain, Chromosome Mapping, Anatomy, Immunohistochemistry, female, Neurology, priority journal, Female, muscle biopsy, musculoskeletal diseases, muscular dystrophy, onset age, Adult, medicine.medical_specialty, Proximal muscle weakness, Adolescent, Limb girdle, LGMD2, Genes, Recessive, α-Dystroglycan, dystroglycan, Autosomal recessive limb girdle muscular dystrophy, Genetic linkage, Intellectual Disability, mental deficiency, medicine, Humans, controlled study, family study, linkage analysis, human, Genetic Testing, Muscle, Skeletal, protein expression, autosomal recessive disorder, business.industry, medicine.disease, human tissue, clinical feature, Cytoskeletal Proteins, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), Age of onset, business, protein determination, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb43ab71eb35f2fde59a301712e852fTest
https://pubmed.ncbi.nlm.nih.gov/14678799Test -
6
المؤلفون: Ralf Herrmann, Francesco Muntoni, Silvia Torelli, Pascale Guicheney, Martin Brockington, Y Yuva, Thomas Voit, Caroline Sewry, Victor Dubowitz, Susana Quijano-Roy, Brigitte Estournet, Derek J. Blake, Norma B. Romero, Susan C. Brown, Eugenio Mercuri, Volker Straub
المصدر: Annals of neurology. 53(4)
مصطلحات موضوعية: Adult, Adolescent, Biopsy, Nonsense mutation, Medizin, Mutation, Missense, medicine.disease_cause, Severity of Illness Index, Muscular Dystrophies, Ventricular Dysfunction, Left, Peripheral Nervous System, medicine, Missense mutation, Humans, Pentosyltransferases, Muscular dystrophy, Age of Onset, Child, Dystroglycans, Muscle, Skeletal, Genetics, Mutation, Fukutin-related protein, Membrane Glycoproteins, biology, Brain, Proteins, Hypoventilation, medicine.disease, Fukutin, Muscular Dystrophy, Duchenne, Cytoskeletal Proteins, Phenotype, Neurology, Child, Preschool, biology.protein, Congenital muscular dystrophy, Female, Neurology (clinical), Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346fb45b0287af668d45c98c187eb77aTest
https://pubmed.ncbi.nlm.nih.gov/12666124Test -
7
المؤلفون: Beril Talim, Stephen C. Brown, Goknur Haliloglu, Haluk Topaloglu, S. Torelli, Derek J. Blake, Francesco Muntoni, Y Yuva, Martin Brockington
المصدر: Scopus-Elsevier
مصطلحات موضوعية: medicine.medical_specialty, Cerebellum, Pathology, Mutation, Missense, Muscle Proteins, Genes, Recessive, Gene mutation, Biology, Muscular Dystrophies, Cerebellar Diseases, Internal medicine, Intellectual Disability, medicine, Humans, Point Mutation, Pentosyltransferases, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, Fukutin-related protein, Muscle biopsy, Membrane Glycoproteins, medicine.diagnostic_test, Cysts, Dystrophy, Proteins, medicine.disease, Hypotonia, Cytoskeletal Proteins, medicine.anatomical_structure, Endocrinology, Amino Acid Substitution, Congenital muscular dystrophy, biology.protein, Neurology (clinical), Laminin, medicine.symptom, Protein Processing, Post-Translational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d8094150a24328054ce88d0fd68a4eTest
https://pubmed.ncbi.nlm.nih.gov/12654965Test -
8
المؤلفون: D. Beltran Valero de Bernabe, Francesco Muntoni, C.G. Korenke, William B. Dobyns, H.G. Brunner, C. Diesen, R. Herrmann, Volker Straub, Y Yuva, J. Sperner, Martin Brockington, Cheryl Longman, Alice Steinbrecher, J.H.L.M. van Bokhoven, Thomas Voit
المصدر: Scopus-Elsevier
Journal of Medical Genetics, 41, e61-e61
Journal of Medical Genetics, 41, 5, pp. e61-e61مصطلحات موضوعية: Genetics, Cobblestone Lissencephaly, Neuromuscular disease, Fukutin-related protein, biology, business.industry, Medizin, Electronic Letter, medicine.disease, Fukutin, Genetic defects of metabolism [UMCN 5.1], Fukuyama congenital muscular dystrophy, medicine, biology.protein, Muscular dystrophy, Walker–Warburg syndrome, business, Gene, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62fafb3799a39186bbd60067bd60631Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-3042850663&partnerID=MN8TOARSTest -
9
المؤلفون: Eugenio Mercuri, Lucy Feng, Heinz Jungbluth, Francesco Muntoni, Martin Brockington, Stephen C. Brown, Y Yuva, Maria Kinali, Caroline Sewry
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Contracture, Adolescent, Ullrich congenital muscular dystrophy, Genetic Linkage, Collagen Type VI, Biology, Muscular Dystrophies, Consanguinity, Collagen VI, medicine, Humans, Functional ability, Muscular dystrophy, Age of Onset, Child, Muscle, Skeletal, Creatine Kinase, Respiratory Tract Infections, Muscle contracture, medicine.diagnostic_test, Bethlem myopathy, Syndrome, medicine.disease, Immunohistochemistry, Pedigree, Haplotypes, Child, Preschool, Skin biopsy, Congenital muscular dystrophy, Disease Progression, Female, Spinal Diseases, Neurology (clinical), Laminin, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcd1632beb70ef8cfc61fb5039146aaTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037076508&partnerID=MN8TOARSTest