المؤلفون: Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio

المصدر: Respiratory Medicine Case Reports, Vol 50, Iss , Pp 102069- (2024)

مصطلحات موضوعية: Polymyositis, Late-onset nemaline rod myopathy, Acute hypercapnic respiratory failure, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213007124000923; https://doaj.org/toc/2213-0071

URL الوصول: https://doaj.org/article/675c8dd039f84721b2d90183c50e7479

المؤلفون: Laitila, Jenni, Wallgren-Pettersson, Carina

المصدر: Laitila , J & Wallgren-Pettersson , C 2021 , ' Recent advances in nemaline myopathy ' , Neuromuscular Disorders , vol. 31 , no. 10 , pp. 955-967 . https://doi.org/10.1016/j.nmd.2021.07.012

مصطلحات موضوعية: Clinical, Congenital myopathy, Functional, Genetics, Nemaline (rod) myopathy, Pathogenesis

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/recent-advances-in-nemaline-myopathy(b49052aa-3219-4755-b329-8ed279602f46).html
https://doi.org/10.1016/j.nmd.2021.07.012
https://curis.ku.dk/ws/files/286012263/Recent_advances_in_nemaline_myopathy.pdf
http://www.scopus.com/inward/record.url?scp=85115400709&partnerID=8YFLogxK

المؤلفون: Zvaritch, Elena, Kraeva, Natasha, Bombardier, Eric, McCloy, Robert A., Depreux, Frederic, Holmyard, Douglas, Kraev, Alexander, Seidman, Christine E., Seidman, J. G., Tupling, A. Russell, MacLennan, David H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2009 Dec 01. 106(51), 21813-21818.

URL الوصول: https://www.jstor.org/stable/40536178

المؤلفون: Marttila, Minttu, Mubashir, Hanif, Lemola, Elina, Nowak, Kristen J., Laitila, Jenni, Gronholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina

المساهمون: Department of Medical and Clinical Genetics, Medicum, Biosciences, Biochemistry and Biotechnology, Gahmberg Group, Katarina Pelin / Principal Investigator, Genetics

مصطلحات موضوعية: Nemaline (rod) myopathy, Congenital myopathy, Nebulin, Actin, Tropomyosin and protein binding, RECESSIVE NEMALINE MYOPATHY, THIN FILAMENT LENGTHS, SKELETAL-MUSCLE, DISTAL MYOPATHY, BINDING PROTEIN, GENE, IDENTIFICATION, WEAKNESS, UPDATE, RULER, Biochemistry, cell and molecular biology, Biomedicine

وصف الملف: application/pdf

Relation: We thank Hande Demir and Feresteh Mohajeri for skilful technical assistance, and Prof. Nigel G. Laing for constructive comments on the manuscript. We also thank Elyshia McNamara and Royston Ong for producing and purifying the WT and mutant tropomyosin proteins. The study was supported by grants from The Academy of Finland (MM, MH, EL, CWP), The Sigrid Juselius Foundation (MM, MH, EL, JL, CWP, KP), the Association Francaise contre les Myopathies (MM, MH, EL, CWP), the Finska Lakaresallskapet (MM, MH, EL, CWP), the Medicinska Understodsforeningen Liv och Halsa r.f. (MM, MH, EL, CWP), and the Australian National Health and Medical Research Council Project Grant APP1022707 (KJN).; Marttila , M , Mubashir , H , Lemola , E , Nowak , K J , Laitila , J , Gronholm , M , Wallgren-Pettersson , C & Pelin , K 2014 , ' Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations ' , Skeletal Muscle , vol. 4 , 15 . https://doi.org/10.1186/2044-5040-4-15; ORCID: /0000-0002-7040-7266/work/29566613; ORCID: /0000-0001-7891-4150/work/43283927; ORCID: /0000-0002-2378-8924/work/156153059; http://hdl.handle.net/10138/162688; eb04d7c3-08b3-499a-a6cb-d14c6a111130; 84905755576; 000357331500001

الاتاحة: http://hdl.handle.net/10138/162688

المؤلفون: Kiran, Polavarapu, Mainak, Bardhan, Ram Murthy, Anjanappa, Seena, Vengalil, Veeramani, Preethish-Kumar, Leena, Shingavi, Tanushree, Chawla, Saraswati, Nashi, Dhaarini, Mohan, Gautham, Arunachal, Thenral S, Geetha, Vedam, Ramprasad, Atchayaram, Nalini

المصدر: Journal of Clinical Neurology (Seoul, Korea)

مصطلحات موضوعية: myopalladin, muscle, MYPN, cap myopathy, Original Article, nemaline rod myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e71657a132931fd22a46eea96e7198ba
https://pubmed.ncbi.nlm.nih.gov/34184449

المؤلفون: Marttila, Minttu, Hanif, Mubashir, Lemola, Elina, Nowak, Kristen J, Laitila, Jenni, Grönholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina

مصطلحات موضوعية: Nemaline (rod) myopathy, Congenital myopathy, Nebulin, Actin, Tropomyosin and protein binding

Relation: http://www.skeletalmusclejournal.com/content/4/1/15

الاتاحة: http://www.skeletalmusclejournal.com/content/4/1/15

المؤلفون: Thomas L. Winder, Vilma-Lotta Lehtokari, Nigel F. Clarke, Kathryn N. North, K. Kiiski, Nigel G. Laing, Pauliina Repo, Alan H. Beggs, Kati Donner, Sarah A. Sandaradura, Carol J Saunders, Jennifer A. Frey, Jocelyn Laporte, Norma B. Romero, Carina Wallgren-Pettersson, Peter G. Barth, M. Marttila, Katarina Pelin, Johan T. den Dunnen

المساهمون: Paediatric Neurology

المصدر: Human mutation, 35(12), 1418-1426. Wiley-Liss Inc.
Human Mutation, 35(12), 1418-1426

مصطلحات موضوعية: Genotype, Muscle Proteins, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Nemaline myopathy, Muscular Diseases, Databases, Genetic, actin-myosin, Genetics, medicine, Animals, Humans, Myopathy, Exome, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, nemaline (rod) myopathy, NEB, Exons, nebulin, medicine.disease, 3. Good health, Alternative Splicing, Phenotype, Chromosomes, Human, Pair 2, Models, Animal, Distal Myopathies, biology.protein, sarcomere, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d5927a5cc3e87ed907200c4508cdc5
https://doi.org/10.1002/humu.22693

المؤلفون: Evans, Jacquelyn Marie

المصدر: All Dissertations

مصطلحات موضوعية: dermatomyositis, dog, genome-wide association study, limb girdle muscular dystrophy, nemaline rod myopathy, whole exome sequencing

وصف الملف: application/pdf

Relation: https://tigerprints.clemson.edu/all_dissertations/2007; https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=3010&context=all_dissertations

الاتاحة: https://tigerprints.clemson.edu/all_dissertations/2007
https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=3010&context=all_dissertations

المؤلفون: Nigel G. Laing, Hans H. Goebel, Douglas A. Weeks, Vassil Kaimaktchiev, Randal R. Nixon, Michael Narus

المصدر: Muscle & Nerve. 34:369-372

مصطلحات موضوعية: Male, Poor prognosis, Pathology, medicine.medical_specialty, Physiology, Biopsy, Intranuclear Inclusion Bodies, Myopathies, Nemaline, medicine.disease_cause, Cellular and Molecular Neuroscience, Nemaline myopathy, Physiology (medical), medicine, Humans, Myocyte, Intranuclear Nemaline Rod Myopathy, Child, Muscle, Skeletal, Myopathy, Actin, Cell Nucleus, Mutation, medicine.diagnostic_test, business.industry, medicine.disease, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29809ee56031e89e4294b671dcff8af9
https://doi.org/10.1002/mus.20521

المؤلفون: Gulati, S, Sharma, MC

مصطلحات موضوعية: ultrastructure, nemaline rod myopathy, muscle diseases, histochemistry, Congenital myopathies

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1807/55895; http://www.bioline.org.br/abstract?id=ni07020; http://www.bioline.org.br/ni; http://www.neurologyindia.com

الاتاحة: http://hdl.handle.net/1807/55895
http://www.bioline.org.br/abstract?id=ni07020
http://www.bioline.org.br/ni
http://www.neurologyindia.com

المؤلفون: Lehtokari, Vilma-Lotta, Pelin, Katarina, Sandbacka, Maria, Ranta, Salla, Donner, Kati, Muntoni, Francesco, Sewry, Caroline, Angelini, Corrado, Bushby, Kate, Van den Bergh, Peter, Iannaccone, Susan, Laing, Nigel G., Wallgren-Pettersson, Carina

المساهمون: UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire

المصدر: Human Mutation, Vol. 27, no. 9, p. 946-56 (2006)

مصطلحات موضوعية: RNA Splice Sites, Point Mutation, Myopathies, Nemaline, Muscle Proteins, Male, Introns, Humans, Genes, Recessive, Gene Deletion, Frameshift Mutation, Female, Exons, DNA Mutational Analysis, Codon, Nonsense, Chromatography, High Pressure Liquid, nemaline (rod) myopathy, nebulin, NEB, dHPLC

Relation: boreal:38285; http://hdl.handle.net/2078.1/38285; info:pmid/16917880; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الاتاحة: http://hdl.handle.net/2078.1/38285
https://doi.org/10.1002/humu.20370

المؤلفون: Wallgren-Pettersson, C., Avela, K., Marchand, S., Kolehmainen, J., Tahvanainen, E., Hansen, F.J., Muntoni, F., Dubowitz, V., de Visser, Marianne, Van Langen, I.M., Laing, N.G., Faure, S., De la Chapelle, A.

المصدر: Wallgren-Pettersson , C , Avela , K , Marchand , S , Kolehmainen , J , Tahvanainen , E , Hansen , F J , Muntoni , F , Dubowitz , V , de Visser , M , Van Langen , I M , Laing , N G , Faure , S & De la Chapelle , A 1995 , ' A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis ' , Neuromuscular disorders , vol. 5 , no. 6 , pp. 441-443 . https://doi.org/10.1016/0960-8966(95)00022-F

مصطلحات موضوعية: Autosomal recessive, Congenital myopathy, Genetic location, Linkage analysis, Nemaline (rod) myopathy, allele, article, Australia, autosomal dominant disorder, autosomal recessive disorder, chromosome 2q, clinical article, Denmark, Finland, gene mutation, genetic analysis, genetic linkage, genetic marker, genotype, human, nemaline myopathy, Netherlands, normal human, priority journal, United Kingdom

Relation: https://research.rug.nl/en/publications/077e2e45-c86a-41f9-bb08-7bf0ec3b9f85

الاتاحة: https://hdl.handle.net/11370/077e2e45-c86a-41f9-bb08-7bf0ec3b9f85
https://research.rug.nl/en/publications/077e2e45-c86a-41f9-bb08-7bf0ec3b9f85
https://doi.org/10.1016/0960-8966(95)00022-F

المؤلفون: Sylvie Marchand, Kristiina Avela, Francesco Muntoni, Esa Tahvanainen, M. de Visser, Juha Kolehmainen, S. Fauré, Nigel G. Laing, I.M. van Langen, Victor Dubowitz, F. Juul Hansen, Carina Wallgren-Pettersson, A. de la Chapelle

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), Other departments

المصدر: Neuromuscular disorders, 5(6), 441-443. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular disorders, 5(6), 441-443. Elsevier Limited

مصطلحات موضوعية: Denmark, genotype, Autosomal recessive, Tropomyosin, genetic analysis, Gene mutation, Myopathies, Nemaline, 0302 clinical medicine, Nemaline myopathy, genetic linkage, Genotype, gene mutation, Genetics (clinical), Finland, Netherlands, Genetics, Recombination, Genetic, 0303 health sciences, Congenital myopathy, clinical article, allele, article, Neurology, priority journal, Chromosomes, Human, Pair 2, Microsatellite, Nemaline (rod) myopathy, genetic marker, nemaline myopathy, Linkage analysis, Genes, Recessive, Biology, 03 medical and health sciences, autosomal dominant disorder, Genetic linkage, medicine, Humans, human, normal human, Allele, 030304 developmental biology, autosomal recessive disorder, Australia, medicine.disease, United Kingdom, Genetic location, chromosome 2q, Genetic marker, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7047e6830146c704885b00b246890e3f
https://research.rug.nl/en/publications/077e2e45-c86a-41f9-bb08-7bf0ec3b9f85

المؤلفون: Elina Lemola, Carina Wallgren-Pettersson, Mikaela Grönholm, Kristen J. Nowak, Mubashir Hanif, Katarina Pelin, J. Laitila, M. Marttila

المساهمون: Department of Medical and Clinical Genetics, Medicum, Biosciences, Biochemistry and Biotechnology, Gahmberg Group, Katarina Pelin / Principal Investigator, Genetics

المصدر: Skeletal Muscle

مصطلحات موضوعية: Kelch Repeat, macromolecular substances, BINDING PROTEIN, Biology, Muscle disorder, medicine.disease_cause, RECESSIVE NEMALINE MYOPATHY, TPM2, 03 medical and health sciences, Nebulin, 0302 clinical medicine, DISTAL MYOPATHY, medicine, Missense mutation, Orthopedics and Sports Medicine, Molecular Biology, Actin, 030304 developmental biology, THIN FILAMENT LENGTHS, Congenital myopathy, 0303 health sciences, Mutation, IDENTIFICATION, Research, Cell Biology, GENE, WEAKNESS, Molecular biology, Tropomyosin, 3. Good health, RULER, Tropomyosin and protein binding, biology.protein, Nemaline (rod) myopathy, SKELETAL-MUSCLE, UPDATE, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7fc3feba80f4efa4054d45f655c7bf

المؤلفون: University of Helsinki, Department of Medical Genetics, University of Helsinki, Dep. of Medical Genetics (Haartman Institute) (-2009), University of Helsinki, Department of Biosciences, University of Helsinki, Haartman Institute, Marttila, Minttu, Mubashir, Hanif, Lemola, Elina, Nowak, Kristen J., Laitila, Jenni, Gronholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina

المصدر: Marttila , M , Mubashir , H , Lemola , E , Nowak , K J , Laitila , J , Gronholm , M , Wallgren-Pettersson , C & Pelin , K 2014 , ' Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations ' Skeletal Muscle , vol 4 , 15 . DOI: 10.1186/2044-5040-4-15

مصطلحات الفهرس: Nemaline (rod) myopathy, Congenital myopathy, Nebulin, Actin, Tropomyosin and protein binding, RECESSIVE NEMALINE MYOPATHY, THIN FILAMENT LENGTHS, SKELETAL-MUSCLE, DISTAL MYOPATHY, BINDING PROTEIN, GENE, IDENTIFICATION, WEAKNESS, UPDATE, RULER, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, A1 Refereed journal article, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: http://hdl.handle.net/10138/162688
Skeletal Muscle