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Tytuł :
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Autorzy :
Cotta A; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Souza LS; Human Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.
Carvalho E; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Feitosa LN; Human Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.
Cunha A Jr; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Navarro MM; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Valicek J; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Menezes MM; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Neves SVN; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Xavier-Neto R; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Vargas AP; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Takata RI; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Paim JF; The SARAH Network of Rehabilitation Hospitals, Av. Amazonas, 5953, Belo Horizonte 30510-000, MG, Brazil.
Vainzof M; Human Genome and Stem Cells Research Center, Genetics and Evolutionary Biology, IBUSP, University of São Paulo, R. do Matao, 106, Cidade Universitária, Sao Paulo 05508-900, SP, Brazil.
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Źródło :
Genes [Genes (Basel)] 2022 Apr 26; Vol. 13 (5). Date of Electronic Publication: 2022 Apr 26.
Typ publikacji :
Journal Article
MeSH Terms :
Myopathy, Central Core*/genetics
Myopathy, Central Core*/pathology
Neuroblastoma*
High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Retrospective Studies ; Ryanodine Receptor Calcium Release Channel/genetics
Czasopismo naukowe
Tytuł :
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Autorzy :
Fusto A; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy.
Cassandrini D; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Fiorillo C; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genoa, Italy.
Codemo V; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy.
Astrea G; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
D'Amico A; Molecular Medicine Unit, Ospedale Bambin Gesù, 00165, Rome, Italy.
Maggi L; Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute 'C. Besta', 20133, Milan, Italy.
Magri F; Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Pane M; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy.
Tasca G; Unità Operativa Complessa Di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.
Sabbatini D; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy.
Bello L; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy.
Battini R; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Bernasconi P; Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute 'C. Besta', 20133, Milan, Italy.
Fattori F; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Bertini ES; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Comi G; Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Messina S; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, 98122, Messina, Italy.
Mongini T; SG. Battista Hospital, Neuromuscular Center, University of Turin, 10124, Turin, Italy.
Moroni I; Child Neurology Department, Neurological Institute C. Besta Foundation IRCCS, 20133, Milan, Italy.
Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genova, Italy.
Berardinelli A; Child and Adolescent Unit, IRCCS C. Mondino Foundation, 27100, Pavia, Italy.
Donati A; Metabolic Disease Unit, AOU Meyer Children Hospital, 50139, Florence, Italy.
Nigro V; 'Luigi Vanvitelli' University and Telethon Institute of Genetics and Medicine (TIGEM), 80078, Naples, Italy.
Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, 40139, Bologna, Italy.
Giannotta M; Child Neurology and Psychiatry Unit, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, 40139, Bologna, Italy.
Dosi C; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Ricci E; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy.
Mercuri E; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy.
Minervini G; Department of Biomedical Sciences, University of Padova, 35128, Padua, Italy.
Tosatto S; Department of Biomedical Sciences, University of Padova, 35128, Padua, Italy.
Santorelli F; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genova, Italy. .
Pegoraro E; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy. .
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Źródło :
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Apr 15; Vol. 10 (1), pp. 54. Date of Electronic Publication: 2022 Apr 15.
Typ publikacji :
Journal Article
MeSH Terms :
Myopathies, Structural, Congenital*/genetics
Myopathies, Structural, Congenital*/pathology
Myopathy, Central Core*/genetics
Myopathy, Central Core*/pathology
Ryanodine Receptor Calcium Release Channel*/genetics
Humans ; Muscle, Skeletal/pathology ; Mutation/genetics
Czasopismo naukowe
Tytuł :
A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease.
Autorzy :
Kim MJ; Division of Rheumatology, Department of Internal Medicine, Seoul Metropolitan Government-Seoul National University Hospital Boramae Medical Center, Seoul, South Korea.
Kim MH; Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.
Park SH; Department of Pathology, Seoul National University College of Medicine, Seoul, South Korea.
Song YW; Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Daehak-ro, Jongno-gu, Seoul, 03080, South Korea. .; Medical Research Center, Institute of Human-Environment Interface Biology, Seoul, South Korea. .
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Źródło :
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2021 Jun 30; Vol. 19 (1), pp. 100. Date of Electronic Publication: 2021 Jun 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Autoimmune Diseases/*complications
Dermatomyositis/*etiology
Myopathy, Central Core/*complications
Adult ; Autoimmune Diseases/genetics ; Female ; Humans ; Myopathy, Central Core/genetics
Czasopismo naukowe
Tytuł :
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
Autorzy :
Cheng, Cheng (AUTHOR)
Weiss, Lan (AUTHOR)
Leinonen, Henri (AUTHOR)
Shmara, Alyaa (AUTHOR)
Yin, Hong Z. (AUTHOR)
Ton, Timothy (AUTHOR)
Do, Annie (AUTHOR)
Lee, Jonathan (AUTHOR)
Ta, Lac (AUTHOR)
Mohanty, Eshanee (AUTHOR)
Vargas, Jesse (AUTHOR)
Weiss, John (AUTHOR)
Palczewski, Krzysztof (AUTHOR)
Kimonis, Virginia (AUTHOR)
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Źródło :
Journal of Translational Medicine. 1/8/2022, Vol. 20 Issue 1, p1-16. 16p.
Czasopismo naukowe
Tytuł :
Core myopathies - a short review.
Autorzy :
Topaloglu H; Yeditepe University Department of Pediatrics, İstanbul, Turkey.
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Źródło :
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2020 Dec 01; Vol. 39 (4), pp. 266-273. Date of Electronic Publication: 2020 Dec 01 (Print Publication: 2020).
Typ publikacji :
Journal Article; Review
MeSH Terms :
Myopathies, Structural, Congenital/*diagnosis
Myopathies, Structural, Congenital/*genetics
Myopathy, Central Core/*diagnosis
Myopathy, Central Core/*genetics
Ophthalmoplegia/*diagnosis
Ophthalmoplegia/*genetics
Ryanodine Receptor Calcium Release Channel/*deficiency
Humans ; Myopathies, Structural, Congenital/therapy ; Myopathy, Central Core/therapy ; Ophthalmoplegia/therapy ; Ryanodine Receptor Calcium Release Channel/genetics
SCR Disease Name :
Minicore Myopathy with External Ophthalmoplegia
Czasopismo naukowe
Tytuł :
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Autorzy :
Pelletier L; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Petiot A; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Brocard J; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Giannesini B; CNRS, CRMBM, Aix-Marseille Univ, Marseille, France.
Giovannini D; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Sanchez C; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene, University Lyon I, Lyon, France.
Travard L; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Chivet M; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Beaufils M; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Kutchukian C; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene, University Lyon I, Lyon, France.
Bendahan D; CNRS, CRMBM, Aix-Marseille Univ, Marseille, France.
Metzger D; CNRS UMR7104, INSERM U1258, Institut de Génétique et de Biologie Moléculaire et Cellulaire, University Strasbourg, Illkirch, France.
Franzini Armstrong C; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA, USA.
Romero NB; Neuromuscular Morphology Unit, Center for Research in Myology, Myology Institute, Sorbonne University, GH Pitié-Salpêtrière, Paris, France.
Rendu J; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Jacquemond V; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene, University Lyon I, Lyon, France.
Fauré J; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Marty I; INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France. .
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Źródło :
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Nov 11; Vol. 8 (1), pp. 192. Date of Electronic Publication: 2020 Nov 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscle Weakness/*genetics
Muscle, Skeletal/*metabolism
Muscular Atrophy/*genetics
Myopathy, Central Core/*genetics
Ryanodine Receptor Calcium Release Channel/*genetics
Animals ; Calcium/metabolism ; Disease Models, Animal ; Gene Knockdown Techniques ; Mice ; Mice, Transgenic ; Mitochondria, Muscle/pathology ; Muscle Fibers, Skeletal/metabolism ; Muscle Fibers, Skeletal/pathology ; Muscle Weakness/metabolism ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology ; Muscular Atrophy/metabolism ; Muscular Atrophy/pathology ; Myopathy, Central Core/metabolism ; Myopathy, Central Core/pathology ; Ryanodine Receptor Calcium Release Channel/metabolism
Czasopismo naukowe
Tytuł :
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Autorzy :
Ogasawara M; Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan; Department of Pediatrics, Showa General Hospital, Tokyo, Kodaira, Japan.
Nishino I; Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Oct; Vol. 31 (10), pp. 968-977. Date of Electronic Publication: 2021 Sep 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Myopathy, Central Core/*genetics
Biopsy ; Humans ; Muscle Proteins/genetics ; Muscle, Skeletal/pathology ; Mutation ; Myopathies, Nemaline/genetics ; Myopathies, Structural, Congenital/genetics ; Ophthalmoplegia/genetics ; Ryanodine Receptor Calcium Release Channel/deficiency ; Ryanodine Receptor Calcium Release Channel/genetics
SCR Disease Name :
Minicore Myopathy with External Ophthalmoplegia
Czasopismo naukowe
Tytuł :
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.
Autorzy :
Ogasawara M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.; Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan.; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Ogawa M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
Nonaka I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.; Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan.
Hayashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.; Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan.
Noguchi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.; Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.; Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan.
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Źródło :
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2020 Dec 04; Vol. 79 (12), pp. 1370-1375.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscle Fibers, Skeletal/*pathology
Muscle, Skeletal/*pathology
Myopathy, Central Core/*pathology
Carrier Proteins/genetics ; Child, Preschool ; Humans ; Muscle Proteins/genetics ; Myopathy, Central Core/genetics ; Ryanodine Receptor Calcium Release Channel/genetics
Czasopismo naukowe
Tytuł :
Asymmetrical anterior thigh muscle atrophy as an atypical presentation of RYR1-core myopathy.
Autorzy :
Primiano G; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: .
Fattori F; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Sancricca C; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Fondazione UILDM LAZIO onlus, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Servidei S; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Aug; Vol. 31 (8), pp. 798-799. Date of Electronic Publication: 2021 May 24.
Typ publikacji :
Journal Article
MeSH Terms :
Ryanodine Receptor Calcium Release Channel*
Muscle, Skeletal/*pathology
Muscular Atrophy/*pathology
Myopathy, Central Core/*pathology
Thigh/*pathology
Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Autorzy :
Biancalana, Valérie (AUTHOR)
Rendu, John (AUTHOR)
Chaussenot, Annabelle (AUTHOR)
Mecili, Helen (AUTHOR)
Bieth, Eric (AUTHOR)
Fradin, Mélanie (AUTHOR)
Mercier, Sandra (AUTHOR)
Michaud, Maud (AUTHOR)
Nougues, Marie-Christine (AUTHOR)
Pasquier, Laurent (AUTHOR)
Sacconi, Sabrina (AUTHOR)
Romero, Norma B. (AUTHOR)
Marcorelles, Pascale (AUTHOR)
Authier, François Jérôme (AUTHOR)
Gelot Bernabe, Antoinette (AUTHOR)
Uro-Coste, Emmanuelle (AUTHOR)
Cances, Claude (AUTHOR)
Isidor, Bertrand (AUTHOR)
Magot, Armelle (AUTHOR)
Minot-Myhie, Marie-Christine (AUTHOR)
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Źródło :
Acta Neuropathologica Communications. 9/17/2021, Vol. 9 Issue 1, p1-10. 10p.
Czasopismo naukowe
Tytuł :
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
Autorzy :
Elbaz M; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Ruiz A; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Bachmann C; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Eckhardt J; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
Pelczar P; Center for Transgenic Models, University of Basel, Mattenstrasse 22, 4002 Basel, Switzerland.
Venturi E; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Lindsay C; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.; Department of Chemistry, Chemistry Research Laboratory, University of Oxford, Oxford OX1 3TA, UK.
Wilson AD; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Alhussni A; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Humberstone T; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Pietrangelo L; Center for Research on Ageing and Translational Medicine and Department of Neuroscience, Imaging and Clinical Sciences, Università G. d'Annunzio, 66100 Chieti, Italy.
Boncompagni S; Center for Research on Ageing and Translational Medicine and Department of Neuroscience, Imaging and Clinical Sciences, Università G. d'Annunzio, 66100 Chieti, Italy.
Sitsapesan R; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Treves S; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.; Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, 44100, Ferrara, Italy.
Zorzato F; Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.; Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, 44100, Ferrara, Italy.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2019 Sep 15; Vol. 28 (18), pp. 2987-2999.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Calcium/*metabolism
Muscle Strength/*genetics
Muscle, Skeletal/*metabolism
Myopathy, Central Core/*etiology
Myopathy, Central Core/*metabolism
Ryanodine Receptor Calcium Release Channel/*genetics
Ryanodine Receptor Calcium Release Channel/*metabolism
Alleles ; Animals ; Calcium Signaling ; Disease Models, Animal ; Genetic Association Studies ; Genetic Predisposition to Disease ; Heterozygote ; Male ; Mice ; Mice, Knockout ; Motor Activity ; Muscle, Skeletal/physiopathology ; Muscle, Skeletal/ultrastructure ; Myopathy, Central Core/physiopathology ; Phenotype
Czasopismo naukowe
Tytuł :
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Autorzy :
Zullo A; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.; Department of Sciences and Technologies, University of Sannio, Via Port'Arsa 11, 82100 Benevento, Italy.
Perrotta G; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.
D'Angelo R; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.
Ruggiero L; Department of Neuroscience, Reproductive Sciences and Dentistry, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
Gravino E; Department of Neuroscience, Reproductive Sciences and Dentistry, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
Del Vecchio L; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
Santoro L; Department of Neuroscience, Reproductive Sciences and Dentistry, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
Salvatore F; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
Carsana A; CEINGE-Advanced Biotechnologies, Via Gaetano Salvatore 486, 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
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Źródło :
BioMed research international [Biomed Res Int] 2019 Apr 21; Vol. 2019, pp. 7638946. Date of Electronic Publication: 2019 Apr 21 (Print Publication: 2019).
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Family*
Gene Expression Regulation*
Genetic Variation*
Malignant Hyperthermia*/genetics
Malignant Hyperthermia*/metabolism
Malignant Hyperthermia*/pathology
Muscle, Skeletal*/metabolism
Muscle, Skeletal*/pathology
Myopathy, Central Core*/genetics
Myopathy, Central Core*/metabolism
Myopathy, Central Core*/pathology
Ryanodine Receptor Calcium Release Channel*/biosynthesis
Ryanodine Receptor Calcium Release Channel*/genetics
Adult ; Child, Preschool ; Female ; Humans ; Italy ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Autorzy :
Yi, Sheng (AUTHOR)
Zhang, Yue (AUTHOR)
Qin, Zailong (AUTHOR)
Yi, Shang (AUTHOR)
Zheng, Haiyang (AUTHOR)
Luo, Jingsi (AUTHOR)
Li, Qifei (AUTHOR)
Wang, Jin (AUTHOR)
Yang, Qi (AUTHOR)
Li, Mengting (AUTHOR)
Chen, Fei (AUTHOR)
Zhang, Qiang (AUTHOR)
Zhang, Qinle (AUTHOR)
Shen, Yiping (AUTHOR)
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Źródło :
Molecular Genetics & Genomic Medicine. Jun2021, Vol. 9 Issue 6, p1-5. 5p.
Czasopismo naukowe

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