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Tytuł:
PAX7, a Key for Myogenesis Modulation in Muscular Dystrophies through Multiple Signaling Pathways: A Systematic Review.
Autorzy:
Rahman NIA; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Lam CL; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Sulaiman N; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Abdullah NAH; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Nordin F; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
Ariffin SHZ; Centre of Biotechnology & Functional Food, Faculty of Science and Technology, Universiti Kebangsaan Malaysia, Bangi 43600, Malaysia.
Yazid MD; Centre for Tissue Engineering & Regenerative Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 22; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 22.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Muscular Dystrophies*/genetics
Humans ; Muscles ; Databases, Factual ; Muscle Development ; Signal Transduction ; PAX7 Transcription Factor/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays.
Autorzy:
Tesoriero C; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
Greco F; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
Cannone E; Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Ghirotto F; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
Facchinello N; Neuroscience Institute, Italian National Research Council (CNR), 35131 Padua, Italy.
Schiavone M; Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Vettori A; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 05; Vol. 24 (9). Date of Electronic Publication: 2023 May 05.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophies*/genetics
Muscular Diseases*
Animals ; Humans ; Zebrafish/genetics ; Animals, Genetically Modified/genetics ; Muscle Fibers, Skeletal/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
Autorzy:
Anwar S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Yokota T; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.
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Źródło:
Biomolecules [Biomolecules] 2024 Feb 21; Vol. 14 (3). Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/therapy
Muscular Dystrophies, Limb-Girdle*/metabolism
Muscular Dystrophies*/genetics
Animals ; Muscle Proteins/genetics ; Membrane Proteins/genetics ; Mutation
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.
Autorzy:
in 't Groen, Stijn L. M. (AUTHOR)
Franken, Marnix (AUTHOR)
Bock, Theresa (AUTHOR)
Krüger, Marcus (AUTHOR)
de Greef, Jessica C. (AUTHOR)
Pijnappel, W. W. M. Pim (AUTHOR)
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Źródło:
Skeletal Muscle. 2/22/2024, Vol. 14 Issue 1, p1-14. 14p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Autorzy:
Cenni V; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Sabatelli P; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Di Martino A; 1st Orthopedics and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Antoniel M; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Squarzoni S; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Neri S; Medicine and Rheumatology Unit, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Santi S; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Metti S; Department of Molecular Medicine, University of Padova, 35122 Padova, Italy.
Bonaldo P; Department of Molecular Medicine, University of Padova, 35122 Padova, Italy.
Faldini C; 1st Orthopedics and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
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Źródło:
Cells [Cells] 2024 Feb 22; Vol. 13 (5). Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Mechanotransduction, Cellular*
Collagen Type VI*/genetics
Muscular Dystrophies*
Sclerosis*
Humans ; Hedgehog Proteins/metabolism ; Tendons/metabolism ; Fibroblasts/metabolism
SCR Disease Name:
Scleroatonic muscular dystrophy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Autorzy:
Padmanabha H; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Arunachal G; Department of Human Genetics, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Kishore P; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Sharma PP; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mailankody P; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mahale RR; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Mathuranath PS; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
Chandra SR; Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India.
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Źródło:
Neurology India [Neurol India] 2023 Nov-Dec; Vol. 71 (6), pp. 1257-1259.
Typ publikacji:
Case Reports
MeSH Terms:
Muscular Diseases*/pathology
Muscular Dystrophies*/congenital
Female ; Humans ; Child, Preschool ; Collagen Type XII/genetics ; Collagen Type XII/metabolism ; Collagen/genetics ; Extracellular Matrix/genetics ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Mutation/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Autorzy:
Winckler PB; Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Chwal BC; Medical Genetics Division, HCPA, Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil.
Dos Santos MAR; Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Burguêz D; Medical Genetics Division, HCPA, Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil.
Polese-Bonatto M; Medical Genetics Division, HCPA, Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil.
Zanoteli E; Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
Siebert M; Graduate Program in Science in Gastroenterology and Hepatology, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.; Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Vairo FPE; Center for Individualized Medicine and Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Chaves MLF; Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, UFRGS, Porto Alegre, Brazil.
Saute JAM; Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil. .; Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. .; Medical Genetics Division, HCPA, Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil. .; Department of Internal Medicine, UFRGS, Porto Alegre, Brazil. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Jul; Vol. 43 (7), pp. 4473-4481. Date of Electronic Publication: 2022 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
Contracture*
Muscular Diseases*/genetics
Muscular Dystrophies*/diagnosis
Muscular Dystrophies*/genetics
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Cross-Sectional Studies ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Autorzy:
Yang X; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People's Republic of China.
Zhang D; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People's Republic of China.
Shen S; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
Li P; GrandOmics Biosciences, Beijing, People's Republic of China.
Li M; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
Niu J; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Ma D; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
Xu D; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Li S; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
Guo X; GrandOmics Biosciences, Beijing, People's Republic of China.
Wang Z; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Zhao Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Ren H; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Ling C; Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Wang Y; GrandOmics Biosciences, Beijing, People's Republic of China.
Fan Y; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
Shen J; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Zhu Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Wang D; GrandOmics Biosciences, Beijing, People's Republic of China.
Cui L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Chen L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
Shi C; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China. .; Henan Key Laboratory of Cerebrovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China. .; Institute of Neuroscience, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China. .
Dai Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Oct 20; Vol. 16 (1), pp. 253. Date of Electronic Publication: 2023 Oct 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophies*/genetics
Adult ; Humans ; Muscle, Skeletal ; Pedigree ; Whole Genome Sequencing
SCR Disease Name:
Oculopharyngodistal Myopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Autorzy:
Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Sabatelli P; Unit of Bologna, CNR-Institute of Molecular Genetics 'Luigi Cavalli Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Gualandi F; Department of Medical Sciences, Unit of Medical Genetics, Università degli Studi di Ferrara, 44100 Ferrara, Italy.
Redivo E; Department of Statistical Sciences, University of Bologna, 40126 Bologna, Italy.
Di Martino A; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Faldini C; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 05; Vol. 24 (15). Date of Electronic Publication: 2023 Aug 05.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies*/metabolism
Contracture*/genetics
Contracture*/pathology
Myopathies, Structural, Congenital*
Humans ; Collagen Type VI/genetics ; Collagen Type VI/metabolism ; Mutation
SCR Disease Name:
Bethlem myopathy; Myosclerosis, Autosomal Recessive
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.
Autorzy:
Narasimhaiah D; Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Uppin MS; Department of Pathology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.
Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.
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Źródło:
Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2022 May; Vol. 65 (Supplement), pp. S259-S270.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophies*/diagnosis
Muscular Dystrophies*/genetics
Muscular Dystrophies*/pathology
Adult ; Child ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Muscle, Skeletal/pathology ; Mutation ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.
Autorzy:
Lambrescu I; Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Department of Cell Biology and Histology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Popa A; Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Department of Animal Production and Public Health, University of Agronomic Sciences and Veterinary Medicine of Bucharest, 050097 Bucharest, Romania.
Manole E; Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Pathology Department, Colentina Clinical Hospital, 020125 Bucharest, Romania.
Ceafalan LC; Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.; Department of Cell Biology and Histology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Gaina G; Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 27; Vol. 23 (9). Date of Electronic Publication: 2022 Apr 27.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophies*/diagnosis
Muscular Dystrophies*/genetics
Muscular Dystrophies*/therapy
Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/genetics
Female ; Humans ; Polymerase Chain Reaction/methods ; Pregnancy ; Quality of Life ; Technology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain.
Autorzy:
Llamosas-Falcón L; Centre for Addiction and Mental Health, Institute for Mental Health Policy Research, 33 Ursula Franklin Street, Toronto, ON, M5S 2S1, Canada.
Sánchez-Díaz G; Department of Geology, Geography and Environmental Sciences, University of Alcala, 28801, Alcalá de Henares, Spain.; Centre for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Gallego E; Department of Preventive Medicine, General University Hospital of Ciudad Real, 13005, Ciudad Real, Spain.
Villaverde-Hueso A; Centre for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Arias-Merino G; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Posada de la Paz M; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Alonso-Ferreira V; Centre for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .
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Źródło:
Scientific reports [Sci Rep] 2022 Mar 08; Vol. 12 (1), pp. 3750. Date of Electronic Publication: 2022 Mar 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
International Classification of Diseases*
Muscular Dystrophies*/epidemiology
Female ; Humans ; Male ; Mortality ; Prevalence ; Research ; Spain/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Specific and label-free endogenous signature of dystrophic muscle by Synchrotron deep ultraviolet radiation.
Autorzy:
Dubreil L; Oniris, INRAE, PAnTher, 44300, Nantes, France. .
Damane N; Oniris, INRAE, PAnTher, 44300, Nantes, France.; IMT Atlantique, Lab-STICC, UMR CNRS 6285, 29238, Brest, France.
Fleurisson R; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Charrier M; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Pichon J; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Leroux I; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Schleder C; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Ledevin M; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Larcher T; Oniris, INRAE, PAnTher, 44300, Nantes, France.
Jamme F; Synchrotron SOLEIL, BP48, L'Orme Des Merisiers, 91120, Gif-Sur-Yvette, France.
Puentes J; IMT Atlantique, Lab-STICC, UMR CNRS 6285, 29238, Brest, France.
Rouger K; Oniris, INRAE, PAnTher, 44300, Nantes, France. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jul 04; Vol. 13 (1), pp. 10808. Date of Electronic Publication: 2023 Jul 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophies*/pathology
Muscular Dystrophies*/therapy
Animals ; Dogs ; Random Forest ; Support Vector Machine ; Ultraviolet Rays ; Microspectrophotometry ; Microscopy ; Stem Cell Transplantation ; Male ; Biopsy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Autorzy:
Wu T; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
Zhang C; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
He F; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
Yang L; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
Yin F; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
Peng J; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2162. Date of Electronic Publication: 2023 Mar 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Uniparental Disomy*/genetics
Muscular Dystrophies*/genetics
Humans ; Homozygote ; Heterozygote ; Choline Kinase/genetics
SCR Disease Name:
Muscular Dystrophy, Congenital, Megaconial Type
Czasopismo naukowe
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Tytuł:
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Autorzy:
Mianesaz H; Department of Human Genetics, Medical School, University of Debrecen, Debrecen, Hungary.; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.
Ghalamkari S; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Salehi M; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Behnam M; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Student Research Committee, Semnan University of Medical Science, Semnan, Iran.
Hosseinzadeh M; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Basiri K; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Science, Tehran, Iran.; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
Ghasemi M; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Science, Tehran, Iran.; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.
Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Science, Tehran, Iran.
Ansari B; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Isfahan Neuroscience Research Center, ALzahra Research Institute, Isfahan University of Medical Science, Isfahan, Iran.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Feb; Vol. 11 (2), pp. e2101. Date of Electronic Publication: 2022 Nov 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies*
Humans ; Iran
Czasopismo naukowe
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Tytuł:
Perspectives on hiPSC-Derived Muscle Cells as Drug Discovery Models for Muscular Dystrophies.
Autorzy:
Abati E; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Sclarandi E; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Comi GP; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Parente V; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Corti S; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 06; Vol. 22 (17). Date of Electronic Publication: 2021 Sep 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cell Differentiation/*physiology
Drug Discovery/*methods
Genetic Therapy/*methods
Induced Pluripotent Stem Cells/*physiology
Muscle Cells/*physiology
Muscular Dystrophies/*therapy
Animals ; Dystrophin/genetics ; Dystrophin/physiology ; Humans ; Induced Pluripotent Stem Cells/cytology ; Muscle Cells/cytology ; Muscular Dystrophies/genetics ; Muscular Dystrophy, Animal/genetics ; Muscular Dystrophy, Animal/therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A single dose of exercise stimulates skeletal muscle mitochondrial plasticity in myotonic dystrophy type 1.
Autorzy:
Mikhail AI; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Manta A; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Ng SY; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Osborne AK; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Mattina SR; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Mackie MR; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Ljubicic V; Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
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Źródło:
Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2023 Apr; Vol. 237 (4), pp. e13943. Date of Electronic Publication: 2023 Feb 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Myotonic Dystrophy*/genetics
Myotonic Dystrophy*/metabolism
Myotonic Dystrophy*/pathology
Muscular Dystrophies*/metabolism
Muscular Dystrophies*/pathology
Mice ; Animals ; Muscle, Skeletal/metabolism ; Mitochondria/metabolism ; Signal Transduction
Czasopismo naukowe
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Tytuł:
Collagen VI in the Musculoskeletal System.
Autorzy:
Di Martino A; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Cescon M; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy.
D'Agostino C; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Schilardi F; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Sabatelli P; Unit of Bologna, CNR-Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Faldini C; I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 07; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophies*/genetics
Muscular Dystrophies*/pathology
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Contracture*/genetics
Contracture*/pathology
Myopathies, Structural, Congenital*/pathology
Humans ; Collagen Type VI/genetics ; Muscle, Skeletal/pathology ; Mutation
Czasopismo naukowe
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