المؤلفون: Kiiski, Kirsi J., Lehtokari, Vilma-Lotta, Vihola, Anna K., Laitila, Jenni M., Huovinen, Sanna, Sagath, Lydia J., Evilä, Anni E., Paetau, Anders E., Sewry, Caroline A., Hackman, Peter B., Pelin, Katarina B., Wallgren-Pettersson, Carina, Udd, Bjarne

المساهمون: Medicum, University of Helsinki, Department of Medical and Clinical Genetics, Katarina Pelin / Principal Investigator, HUSLAB, Clinicum, Department of Pathology, Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences

مصطلحات موضوعية: Dominant nemaline myopathy, Distal myopathy, Cap myopathy, Nebulin, Nemaline myopathy-CGH Array, ALPHA-ACTIN GENE, CONGENITAL MYOPATHY, MUTATIONS, IDENTIFICATION, DISEASE, RODS, MYOSIN, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: This study was supported by grants from the Sigrid Juselius Foundation, the Academy of Finland, the Association Francaise contre les Myopathies, Muscular Dystrophy UK, the Finska Lakaresallskapet and the Medicinska understodsforeningen Liv och Halsa.; Kiiski , K J , Lehtokari , V-L , Vihola , A K , Laitila , J M , Huovinen , S , Sagath , L J , Evilä , A E , Paetau , A E , Sewry , C A , Hackman , P B , Pelin , K B , Wallgren-Pettersson , C & Udd , B 2019 , ' Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene ' , Neuromuscular Disorders , vol. 29 , no. 2 , pp. 97-107 . https://doi.org/10.1016/j.nmd.2018.12.007; ORCID: /0000-0002-7040-7266/work/56619016; ORCID: /0000-0002-8276-0972/work/56622422; ORCID: /0000-0002-6754-3830/work/56622495; ORCID: /0000-0002-1004-9612/work/161721200; http://hdl.handle.net/10138/300908; 17c97f17-843e-4dde-9964-fa3d61adcf17; 85060197885; 000462421400002

الاتاحة: http://hdl.handle.net/10138/300908

المؤلفون: North, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Boennemann, Carsten G.

المصدر: North , K N , Wang , C H , Clarke , N , Jungbluth , H , Vainzof , M , Dowling , J J , Amburgey , K , Quijano-Roy , S , Beggs , A H , Sewry , C , Laing , N G , Boennemann , C G 2014 , ' Approach to the diagnosis of congenital myopathies ' , Neuromuscular Disorders , vol. 24 , no. 2 , pp. 97-116 . https://doi.org/10.1016/j.nmd.2013.11.003

مصطلحات موضوعية: Congenital myopathy, Diagnosis, Guidelines, FIBER-TYPE DISPROPORTION, RECESSIVE NEMALINE MYOPATHY, CENTRAL CORE DISEASE, ALPHA-ACTIN GENE, LINKED MYOTUBULAR MYOPATHY, MYOSIN STORAGE MYOPATHY, DNM2-RELATED CENTRONUCLEAR MYOPATHY, MUSCLE RYANODINE RECEPTOR, MULTI-MINICORE DISEASE, ONSET DISTAL MYOPATHY

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/approach-to-the-diagnosis-of-congenital-myopathies(94c493b3-e2a2-47ab-a41a-827836ad5653).html
https://doi.org/10.1016/j.nmd.2013.11.003

المؤلفون: Pelin, Katarina, Wallgren-Pettersson, Carina

المساهمون: Molecular and Integrative Biosciences Research Programme, Katarina Pelin / Principal Investigator, University Management, Genetics, Faculty of Biological and Environmental Sciences, Department of Medical and Clinical Genetics, Medicum

مصطلحات موضوعية: SELENOPROTEIN-N, CENTRONUCLEAR MYOPATHY, 3123 Gynaecology and paediatrics, KLHL40-RELATED NEMALINE MYOPATHY, RYANODINE RECEPTOR GENE, ALPHA-ACTIN GENE, LINKED MYOTUBULAR MYOPATHY, 3112 Neurosciences, RECESSIVE RYR1 MUTATIONS, CENTRAL CORE DISEASE, MULTIPLE PTERYGIUM SYNDROME, 3124 Neurology and psychiatry, GENOTYPE-PHENOTYPE CORRELATIONS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::192a487609a66ecc1a1c74963ceed4a7
http://hdl.handle.net/10138/317086

المؤلفون: Pelin, Katarina, Wallgren-Pettersson, Carina

المساهمون: Molecular and Integrative Biosciences Research Programme, Katarina Pelin / Principal Investigator, University Management, Genetics, Faculty of Biological and Environmental Sciences, Department of Medical and Clinical Genetics, Medicum

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry, Gynaecology and paediatrics, ALPHA-ACTIN GENE, LINKED MYOTUBULAR MYOPATHY, RYANODINE RECEPTOR GENE, KLHL40-RELATED NEMALINE MYOPATHY, GENOTYPE-PHENOTYPE CORRELATIONS, MULTIPLE PTERYGIUM SYNDROME, RECESSIVE RYR1 MUTATIONS, CENTRAL CORE DISEASE, CENTRONUCLEAR MYOPATHY, SELENOPROTEIN-N

وصف الملف: application/pdf

Relation: Pelin , K & Wallgren-Pettersson , C 2019 , ' Update on the genetics of congenital myopathies ' , Seminars in pediatric neurology. , vol. 29 , pp. 12-22 . https://doi.org/10.1016/j.spen.2019.01.005; ORCID: /0000-0002-7040-7266/work/58952071; http://hdl.handle.net/10138/317086; d99daab6-d12f-4fca-8f2e-b08fa19f3dda; 000466872100003

الاتاحة: http://hdl.handle.net/10138/317086

المؤلفون: Tajsharghi, Homa, 1968, Ohlsson, Monica, Palm, L., Oldfors, Anders, 1951

المصدر: Neuromuscular Disorders. 22(11):923-933

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, Tropomyosin, Myopathy, Nemaline myopathy, Cap disease, Congenital myopathy, Distal, recessive nemaline myopathy, alpha-actin gene, familial hypertrophic, cardiomyopathy, cause distal arthrogryposis, skeletal-muscle actin, nebulin gene, cap disease, congenital myopathy, binding-protein, tpm2

URL الوصول: https://gup.ub.gu.se/publication/168966

المؤلفون: Yonghong Xiao, Nadia Rosenthal, Uta Grieshammer

المصدر: The Journal of Cell Biology

مصطلحات موضوعية: LIGHT CHAIN ENHANCER, EXPRESSION, Myosin light-chain kinase, RECEPTOR-ALPHA, Transgene, Cellular differentiation, Retinoic acid, Mice, Transgenic, Tretinoin, macromolecular substances, Myosins, Biology, MOUSE EMBRYOGENESIS, Mice, chemistry.chemical_compound, HEPATOCELLULAR-CARCINOMA, Myosin, medicine, Animals, Muscle, Skeletal, Cells, Cultured, 11 Medical and Health Sciences, Science & Technology, CELL-LINE, Myogenesis, ALPHA-ACTIN GENE, Gene Expression Regulation, Developmental, Cell Differentiation, Articles, Cell Biology, 06 Biological Sciences, Molecular biology, Actins, Retinoic acid receptor, DIFFERENTIATION, chemistry, SKELETAL-MUSCLE, Life Sciences & Biomedicine, MYOGENIC CELLS, Developmental Biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa287affbcb9328767a428e7f2cc8fbf
https://doi.org/10.1083/jcb.129.5.1345

المؤلفون: Downes M., Griggs R., Atkins A., Olson E.N., Muscat G.E.O.

مصطلحات موضوعية: Myosin Isozyme Transitions, Muscle-Specific Enhancer, Alpha-Actin Gene, Skeletal-Muscle, Sarcoplasmic-Reticulum, Nuclear Receptors, Auxiliary Protein, Acid Receptors, T3 Receptor, Coup-Tf, 1307 Cell Biology, 1312 Molecular Biology

Relation: orcid:0000-0002-5829-5695

الاتاحة: https://espace.library.uq.edu.au/view/UQ:390027