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1
المؤلفون: Voermans, Nicol C., Oldfors, Anders, 1951, Jungbluth, Heinz
المصدر: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 2. :575-587
مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, central core disease (CCD), congenital fiber-type disproportion (CFTD), Congenital myopathy (CM), multiminicore disease (MmD), myotubular/centronuclear myopathy (MTM/CNM), nemaline myopathy (NM), skeletal muscle ryanodine receptor (RYR1) gene, titin (TTN) gene
URL الوصول: https://gup.ub.gu.se/publication/346186
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2Academic Journal
المؤلفون: Haiyan Zhang, Yanyan Ma, Yuqiang Lv, Ya Wan, Quanli Zhao, Zhongtao Gai, Yi Liu
المصدر: Stem Cell Research, Vol 45, Iss , Pp - (2020)
مصطلحات موضوعية: iPSC, Reprogramming, RYR1, multiminicore disease, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Dissertation/ Thesis
المساهمون: Matos, Anabela Peixinho Valente de, Gonçalves, António Freire
مصطلحات موضوعية: mutações RyR1, miopatia congénita, RyR1 mutations, central core disease, malignant hyperthermia susceptibility, congenital myopathy, multiminicore disease
الاتاحة: http://hdl.handle.net/10316/81952
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4Academic Journal
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
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5
المؤلفون: Susan Treves, Sven Nicolay, Pawel Pelczar, Moran Elbaz, Alexis Ruiz, Chiara Tupini, Francesco Zorzato, Jan Eckhardt, Christoph Bachmann, Sofia Benucci
المصدر: J Biol Chem
مصطلحات موضوعية: 0301 basic medicine, Male, Mutation, Missense, Biology, Compound heterozygosity, Biochemistry, calcium release channel, NO, 03 medical and health sciences, Mice, slow-twitch muscles, LS4_1, medicine, Missense mutation, Animals, Muscle Strength, Allele, Centronuclear myopathy, LS7_6, Molecular Biology, ryanodine receptor (RyR), mutations, slow-twitch muscles, monoallelic versus bi-allelic, muscle strength, myopathy, skeletal muscle disease, calcium release channel, multiminicore disease (MmD), RYR1, multiminicore disease (MmD), skeletal muscle disease, 030102 biochemistry & molecular biology, Molecular Bases of Disease, Ryanodine Receptor Calcium Release Channel, Cell Biology, Congenital fiber type disproportion, ryanodine receptor (RyR), mutations, medicine.disease, musculoskeletal system, Molecular biology, monoallelic versus bi-allelic, Mice, Mutant Strains, 030104 developmental biology, Muscle Fibers, Slow-Twitch, Amino Acid Substitution, Gene Expression Regulation, Mutation (genetic algorithm), Central core disease, myopathy
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6
المؤلفون: Yuqiang Lv, Yanyan Ma, Quanli Zhao, Zhongtao Gai, Yi Liu, Haiyan Zhang, Ya Wan
المصدر: Stem Cell Research, Vol 45, Iss, Pp-(2020)
مصطلحات موضوعية: Heterozygote, Induced Pluripotent Stem Cells, Gene mutation, Biology, Compound heterozygosity, Peripheral blood mononuclear cell, Kruppel-Like Factor 4, SOX2, RYR1, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Ophthalmoplegia, iPSC, Cell Differentiation, Ryanodine Receptor Calcium Release Channel, Reprogramming, Cell Biology, General Medicine, Cellular Reprogramming, Molecular biology, lcsh:Biology (General), KLF4, Mutation, Leukocytes, Mononuclear, Female, multiminicore disease, Developmental Biology, Myopathies, Structural, Congenital
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7
المؤلفون: N.P. Varghese, N. Villafranco
المصدر: C48. CASE REPORTS: NEONATAL LUNG DISEASE, CONGENITAL MALFORMATIONS, AND MORE.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, Multiminicore disease, Acute respiratory failure, Presentation (obstetrics), business, medicine.disease, Pulmonary hypertension
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8
المؤلفون: Sari Tunel, Fatma
المساهمون: Vural, Burçak, Genetik Anabilim Dalı
مصطلحات موضوعية: Multiminicore disease, Genetic diseases-inborn, Genetics, Twins, Sequence analysis, Gene expression, Genetik, Muscular diseases
وصف الملف: application/pdf
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9
المؤلفون: Davignon, Laurianne
المساهمون: Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris VI, Helmholtz-Gemeinschaft, Ana Ferreiro, Michael Gotthardt, STAR, ABES
المصدر: Biochemistry, Molecular Biology. Université Pierre et Marie Curie-Paris VI; Helmholtz-Gemeinschaft, 2015. English. ⟨NNT : 2015PA066696⟩
مصطلحات موضوعية: Multiminicore, TRIP4, Différentiation, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, transcription coactivator, Muscle, Coactivateur transcriptionnel, Congenital muscular disorder, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Génétique, Myopathie, multiminicore disease
وصف الملف: application/pdf
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10Dissertation/ Thesis
المؤلفون: Davignon, Laurianne
المساهمون: davignon.laurianne@gmail.com, w, Prof. Dr. Michael Gotthardt, Prof. Dr. Simone Spüler
مصطلحات موضوعية: multiminicore disease, transcription coactivator, ddc:616
وصف الملف: 191 Seiten; application/pdf
Relation: https://refubium.fu-berlin.de/handle/fub188/10333; http://dx.doi.org/10.17169/refubium-14531; urn:nbn:de:kobv:188-fudissthesis000000106695-3
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11
المؤلفون: T. Evangelista, Rośrio Santos, Sofia T. Duarte, Pedro Pereira, Jorge Oliveira, Isabel Conceição, Cândida Barroso
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Physiology, Genes, Recessive, HDE NEU PED, Compound heterozygosity, Young Adult, Cellular and Molecular Neuroscience, Muscular Diseases, Central Core Disease, Physiology (medical), Biopsy, RYR1, medicine, Adult Presentation, Humans, Myopathy, Central Core, Multiminicore Disease, Young adult, Myopathy, Aged, Genes, Dominant, Muscle biopsy, medicine.diagnostic_test, business.industry, Malignant hyperthermia, Ryanodine Receptor Calcium Release Channel, Deltoid Muscle, Middle Aged, musculoskeletal system, medicine.disease, Doenças Genéticas, Pedigree, Mutation, Female, Neurology (clinical), medicine.symptom, Malignant Hyperthermia, business, Central core disease
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12Dissertation/ Thesis
المساهمون: Matos, Anabela Peixinho Valente de, Gonçalves, António Freire
مصطلحات موضوعية: mutações RyR1, miopatia congénita, RyR1 mutations, central core disease, malignant hyperthermia susceptibility, congenital myopathy, multiminicore disease
Relation: https://hdl.handle.net/10316/81952; 202047504
الاتاحة: https://hdl.handle.net/10316/81952
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13
المصدر: Anesthesia & Analgesia. 109:1167-1173
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Myopathies, Nemaline, Risk Assessment, Muscular Diseases, Risk Factors, medicine, Humans, Anesthesia, Genetic Predisposition to Disease, Multiminicore disease, Myopathy, Central Core, Risk factor, Muscular dystrophy, Muscle, Skeletal, Myopathy, business.industry, Malignant hyperthermia, Ryanodine Receptor Calcium Release Channel, Rigid spine, medicine.disease, Cell calcium, Phenotype, Anesthesiology and Pain Medicine, Mutation, Calcium, medicine.symptom, Malignant Hyperthermia, business, Central core disease
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14
المؤلفون: Mustafa Akçakoyun, Zeki Şimşek, Ozlem Esen, Ali Metin Esen, Göksel Açar, Yunus Emiroglu
المصدر: Journal of Cardiovascular Medicine. 13:660-662
مصطلحات موضوعية: medicine.medical_specialty, Text mining, business.industry, Internal medicine, medicine, Cardiology, Left ventricular noncompaction, Multiminicore disease, General Medicine, Cardiology and Cardiovascular Medicine, business
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15Academic Journal
المساهمون: Treves, Susan Nella, Heinz, Jungbluth, H. Muntoni, F., Zorzato, Francesco
مصطلحات موضوعية: Central core disease, multiminicore disease, malignant hyperthermia, ryanodine receptor mutation, calcium channel
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000257120500016; volume:8; issue:3; firstpage:319; lastpage:329; journal:CURRENT OPINION IN PHARMACOLOGY; http://hdl.handle.net/11392/520805; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-44649184084; usr_valut
الاتاحة: http://hdl.handle.net/11392/520805
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16
المصدر: Pediatric neurology. 44(4)
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Bronchopneumonia, Mallory Bodies, Muscular Dystrophies, Home ventilation, Developmental Neuroscience, medicine, Humans, Multiminicore disease, Myopathy, Intensive care medicine, Mechanical ventilation, business.industry, Muscles, Respiratory disease, medicine.disease, Muscle Rigidity, Neurology, Respiratory failure, Scoliosis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Spinal Diseases, Neurology (clinical), medicine.symptom, business, Respiratory Insufficiency
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17Academic Journal
المؤلفون: Gulati, S, Sharma, MC
مصطلحات موضوعية: ultra structure, myopathy, multiminicore disease, histochemistry, core disease, Central core
وصف الملف: application/pdf
Relation: http://hdl.handle.net/1807/55883; http://www.bioline.org.br/abstract?id=ni07014; http://www.bioline.org.br/ni; http://www.neurologyindia.com
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18Academic Journal
المؤلفون: ZORZATO, Francesco, TREVES, Susan Nella, Jungbluth H, Zhou H, Muntoni F
المساهمون: Zorzato, Francesco, Jungbluth, H, Zhou, H, Muntoni, F, Treves, Susan Nella
مصطلحات موضوعية: ryanodine receptor mutation, multiminicore disease, sarcoplasmic reticulum, calcium channel
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000244890900003; volume:59; firstpage:14; lastpage:20; journal:IUBMB LIFE; http://hdl.handle.net/11392/520795; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33847021853; usr_valut
الاتاحة: http://hdl.handle.net/11392/520795
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19
المؤلفون: Haiyan Zhou, Francesco Muntoni, Susan Treves, Heinz Jungbluth, Francesco Zorzato
مصطلحات موضوعية: Clinical Biochemistry, Muscle Proteins, Genes, Recessive, Biology, Biochemistry, ryanodine receptor mutations, Muscular Diseases, Genetics, medicine, Humans, Muscular dystrophy, Selenoproteins, Molecular Biology, Gene, RYR1, Genetic Diseases, Inborn, Malignant hyperthermia, multiminicore disease, sarcoplasmic reticulum, calcium channel, Skeletal muscle, Ryanodine Receptor Calcium Release Channel, Cell Biology, musculoskeletal system, medicine.disease, Congenital myopathy, Phenotype, medicine.anatomical_structure, Central core disease
وصف الملف: application/pdf
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20
المؤلفون: M. Saccoliti, Nicole Monnier, P. Richard, Joël Lunardi, Ana Lia Taratuto, Fabiana Lubieniecki, Norma B. Romero
المصدر: Neuromuscular Disorders. 19:558
مصطلحات موضوعية: RYR1, medicine.medical_specialty, Long term follow up, business.industry, Gastroenterology, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Multiminicore disease, Neurology (clinical), business, Gene, Genetics (clinical)
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