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: Jean Michaud, Sunita Venkateswaran, David A. Dyment, Arun K. Ramani, Christian R. Marshall, Kym M. Boycott, Jodi Warman-Chardon, Kristin D. Kernohan, Hugh J. McMillan, Aren E Marshall, Taila Hartley

المصدر: Clinical Genetics. 99:746-748

مصطلحات موضوعية: Whole genome sequencing, Genetics, Text mining, business.industry, Cerebellar atrophy, Biology, business, Cap myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::736caa8b17c0f2f015e3eab743a51348
https://doi.org/10.1111/cge.13935

المؤلفون: Yun Yuan, Wei Zhang, Zhaoxia Wang, He Lv, Yiming Zheng

المصدر: Journal of Neuropathology & Experimental Neurology. 79:1382-1384

مصطلحات موضوعية: Cellular and Molecular Neuroscience, medicine.medical_specialty, Neurology, Respiratory failure, business.industry, Internal medicine, MEDLINE, medicine, Neurology (clinical), General Medicine, business, Cap myopathy, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6b555a6f7cfb6f8a7feffd73116f14f5
https://doi.org/10.1093/jnen/nlaa117

المؤلفون: Aren E Marshall, Hugh J. McMillan, Sunita Venkateswaran, Jodi Warman-Chardon, Jean Michaud, Kristin D. Kernohan, Taila Hartley, Christian R. Marshall, David A. Dyment, Kym M. Boycott, Arun K. Ramani

مصطلحات موضوعية: Genetics, Whole genome sequencing, Cerebellar atrophy, Biology, Cap myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::080dbebc4fdbdaf133038b928066cf53
https://doi.org/10.1111/cge.13935/v2/response1

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: Jean-Marie Cuisset, Anne Boland, Edoardo Malfatti, Matteo Garibaldi, Jean-François Deleuze, Johann Böhm, Michel Fardeau, Jocelyn Laporte, Xavière Lornage, Norma B. Romero, Raphaël Schneider, Robert-Yves Carlier, Bruno Eymard, Valérie Biancalana, Chrystel Cheraud, Julie D. Thompson

المصدر: Annals of Neurology. 81:467-473

مصطلحات موضوعية: 0301 basic medicine, Genetics, Messenger RNA, Mutation, Genetic heterogeneity, MYPN, Consanguinity, Biology, medicine.disease_cause, Sarcomere, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), Cap myopathy, Exome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3edab8dafbde836a327830ac8891ae5f
https://doi.org/10.1002/ana.24900

المؤلفون: Dae-Seong Kim, Changhoon Lee, Jin-Hong Shin, Young-Eun Park, Yoori Jung

المصدر: Journal of the Korean Neurological Association. 34:224-227

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, business.industry, Missense mutation, Medicine, business, Tropomyosin, Molecular biology, Cap myopathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05e528674b8f8e408a468457af7872cf
https://doi.org/10.17340/jkna.2016.3.11

المؤلفون: L. Vallée, Jon Andoni Urtizberea, A. Barois, Homa Tajsharghi, Jean-Marie Cuisset, Nigel G. Laing, J.F. Pellissier, Claude-Alain Maurage

المصدر: Neuromuscular Disorders. 16:277-281

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Neurology, Adolescent, Biopsy, Neonatal onset, Myopathies, Nemaline, Nemaline myopathy, Muscular Diseases, medicine, Humans, Cap myopathy, Genetics (clinical), Muscle biopsy, Myosin Heavy Chains, medicine.diagnostic_test, business.industry, Muscles, Genetic disorder, medicine.disease, Congenital myopathy, Actins, Pedigree, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba07c0c3cddcb37ab5e226fca278e02
https://doi.org/10.1016/j.nmd.2006.01.014

المؤلفون: Jean-Marie Cuisset, Johann Böhm, Xavière Lornage, Michel Fardeau, Jean-François Deleuze, Anne Boland, Valérie Biancalana, Raphaël Schneider, Norma B. Romero, Jocelyn Laporte, Matteo Garibaldi, Chrystel Cheraud, Julie Dawn Thompson, Bruno Eymard, E. Malfatti

المصدر: Neuromuscular Disorders. 27:S185

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Cap myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19219af1e9b9572bc4359652b9a4cc55
https://doi.org/10.1016/j.nmd.2017.06.331

المؤلفون: Andrew J. Kornberg, Nigel F. Clarke, Paul Kennedy, Leigh B. Waddell, Nicole Monnier, Michaela Kreissl, Kathryn N. North, Annick Labarre-Vila, Catriona McLean

المساهمون: Institute for Neuroscience and Muscle Research, Westmead Hospital [Sydney], Discipline of Paediatrics and Child Health, The University of Sydney, Department of Neurology, Royal Children's Hospital, State Neuropathology Service, Department of Pathology, University of Melbourne, Department of Anatomical Pathology, The Alfred Hospital, Centre de Reference des Maladies Neuromusculaires, CHU Grenoble, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de biochimie et génétique moléculaire, This work has been supported by the NHMRC, Australia (N.C. - Grant 206529 and 571287, L.W. - Grant 505004 and K.N. - Grant 403941) and the MDA of New South Wales (N.C., K.N.)., Roux-Buisson, Nathalie

المصدر: Neuromuscul Disord
Neuromuscul Disord, 2010, 20 (7), pp.464-6. ⟨10.1016/j.nmd.2010.05.012⟩

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, MESH: Mutation, Adolescent, Dominant negative, MESH: Tropomyosin, Tropomyosin, Disease, Biology, Arginine, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Cap myopathy, Mutant protein, Dominant negative disease, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cysteine, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, MESH: Adolescent, MESH: Muscle, Skeletal, 0303 health sciences, MESH: Humans, Mechanism (biology), MESH: Child, Preschool, MESH: Arginine, MESH: Muscular Diseases, MESH: Cysteine, MESH: Male, 3. Good health, Congenital fibre-type disproportion, TPM3, Neurology, Child, Preschool, Causal association, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058e57b4ee8d73764976bfeff8580eb2
https://doi.org/10.1016/j.nmd.2010.05.012

المؤلفون: Maues de Paula, André, Franques, Jérôme, Fernandez, Carla, Monnier, Nicole, Lunardi, Joël, Pellissier, Jean-François, Figarella-Branger, Dominique, Pouget, Jean

المساهمون: Service de pathologie et neuropathologie, Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Service de neurologie et maladie neuromusculaire, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Neuromuscul Disord ; https://inserm.hal.science/inserm-00515876 ; Neuromuscul Disord, 2009, 19 (10), pp.685-8. ⟨10.1016/j.nmd.2009.06.365⟩

مصطلحات موضوعية: Cap myopathy, Congenital myopathy, Nemaline myopathy, Tropomyosin, TPM2, TPM3, Congenital fiber type disproportion, MESH: Adult, MESH: Child, MESH: Tropomyosin, MESH: DNA Mutational Analysis, MESH: Disease Progression, MESH: European Continental Ancestry Group, MESH: Humans, MESH: Male, MESH: Muscle, Skeletal, MESH: Muscular Diseases, MESH: Point Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/19553118; PUBMED: 19553118

الاتاحة: https://inserm.hal.science/inserm-00515876
https://inserm.hal.science/inserm-00515876v1/document
https://inserm.hal.science/inserm-00515876v1/file/De_Paula_et_al_2009.pdf
https://doi.org/10.1016/j.nmd.2009.06.365

المؤلفون: Jean Pouget, Joël Lunardi, André Maues De Paula, Jérôme Franques, Nicole Monnier, Carla Fernandez, Dominique Figarella-Branger, Jean-François Pellissier

المساهمون: Service de pathologie et neuropathologie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de neurologie et maladie neuromusculaire, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Roux-Buisson, Nathalie

المصدر: Neuromuscul Disord
Neuromuscul Disord, 2009, 19 (10), pp.685-8. ⟨10.1016/j.nmd.2009.06.365⟩

مصطلحات موضوعية: Male, Pathology, DNA Mutational Analysis, MESH: Tropomyosin, Tropomyosin, medicine.disease_cause, TPM2, 0302 clinical medicine, Nemaline myopathy, Cap myopathy, MESH: Child, Family history, MESH: DNA Mutational Analysis, Child, Genetics (clinical), 0303 health sciences, Mutation, Congenital myopathy, MESH: Muscle, Skeletal, medicine.diagnostic_test, Congenital fiber type disproportion, MESH: European Continental Ancestry Group, 3. Good health, Neurology, Disease Progression, MESH: Disease Progression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Adult, medicine.medical_specialty, White People, 03 medical and health sciences, Muscular Diseases, Biopsy, medicine, Humans, Point Mutation, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, 030304 developmental biology, MESH: Point Mutation, MESH: Humans, business.industry, Point mutation, MESH: Muscular Diseases, MESH: Adult, medicine.disease, MESH: Male, TPM3, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f146ea6a3f50a60fff2d4a2e4af5d77
https://www.hal.inserm.fr/inserm-00515876/document

المؤلفون: C. Jimenez-Mallebrera, Ana Fernández-Marmiesse, Jaume Colomer, T. Ribalta, G. Bouchier, M C Carrascosa-Romero, María L. Couce, Andrés Nascimento, A. Blancas, Cristina Jou, Carlos Ortez, Norma B. Romero

المصدر: Neuromuscular Disorders. 25:S287

مصطلحات موضوعية: Genetics, Neurology, Heart disease, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Gene mutation, business, medicine.disease, Cap myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7ffc9d4d2d89a30e222d73ff7e215f9
https://doi.org/10.1016/j.nmd.2015.06.362

المؤلفون: M. Marttila, Kati Donner, Mikaela Grönholm, Mubashir Hanif, E. Nuutinen, Tuula A. Nyman, Carina Wallgren-Pettersson, Katarina Pelin

المصدر: Neuromuscular Disorders. 19:589-590

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Beta-Tropomyosin, medicine.disease, Nemaline myopathy, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Functional studies, business, Cap myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f271e2aaef50975b649e8b9145521619
https://doi.org/10.1016/j.nmd.2009.06.147

المؤلفون: Cynthia Hawkins, Willliam Halliday, Jiri Vajsar, Grace Yoon, Doug Biggar, Ryan M. Hung

المصدر: Neuromuscular Disorders. 20:567

مصطلحات موضوعية: Neurology, Alpha-Actin, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Neurology (clinical), Biology, Molecular biology, Cap myopathy, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f0e7cb86aa3415cd3d69087f5ee7734
https://doi.org/10.1016/j.nmd.2010.06.015

المؤلفون: Ryan M. Hung, Doug Biggar, G. Yoon, Jiri Vajsar, Cynthia Hawkins

المصدر: Neuromuscular Disorders. 19:638

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Muscle biopsy, Neurology, medicine.diagnostic_test, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Gene mutation, business, Cap myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74ae650565c91bc2132e431ccd5b6471
https://doi.org/10.1016/j.nmd.2009.06.294

المؤلفون: M. Marttila, Carina Wallgren-Pettersson, E. Nuutinen, Katarina Pelin, S. Ollila, D. Brudzewsky, Kati Donner

المصدر: Neuromuscular Disorders. 18:807

مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Beta-Tropomyosin, medicine.disease, Distal arthrogryposis, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Cap myopathy, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ada1bcd31465d82a39ed8d2bdf60f112
https://doi.org/10.1016/j.nmd.2008.06.287