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Wyszukujesz frazę ""Myopathy"" wg kryterium: Temat


Starter badań:

Tytuł:
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Autorzy:
Zhong, Huahua (AUTHOR)
Sian, Veronica (AUTHOR)
Johari, Mridul (AUTHOR)
Katayama, Shintaro (AUTHOR)
Oghabian, Ali (AUTHOR)
Jonson, Per Harald (AUTHOR)
Hackman, Peter (AUTHOR)
Savarese, Marco (AUTHOR)
Udd, Bjarne (AUTHOR)
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Źródło:
Communications Biology. 4/10/2024, Vol. 7 Issue 1, p1-9. 9p.
Czasopismo naukowe
Tytuł:
Peripheral thickening of the sarcomeres and pointed end elongation of the thin filaments are both promoted by SALS and its formin interaction partners.
Autorzy:
Farkas, Dávid (AUTHOR)
Szikora, Szilárd (AUTHOR)
Jijumon, A. S. (AUTHOR)
Polgár, Tamás F. (AUTHOR)
Patai, Roland (AUTHOR)
Tóth, Mónika Ágnes (AUTHOR)
Bugyi, Beáta (AUTHOR)
Gajdos, Tamás (AUTHOR)
Bíró, Péter (AUTHOR)
Novák, Tibor (AUTHOR)
Erdélyi, Miklós (AUTHOR)
Mihály, József (AUTHOR)
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Źródło:
PLoS Genetics. 1/10/2024, Vol. 20 Issue 1, p1-31. 31p.
Czasopismo naukowe
Tytuł:
A Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?
Autorzy:
Diniz, Gülden
Yavaşcan, Önder
Şarkış, Ümit Başak
Yıldırım, Zübeyde
Alparslan, Caner
Öztürk, Can
Berdeli, Afig
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Alternatywny tytuł:
Sitokrom Oksidaz Eksikliği Olan Çocukluk Çağı Enflamatuvar Miyopatisi: Yumurta mı Tavuktan Çıkar, Yoksa Tavuk mu Yumurtadan?
Źródło:
Journal of Behcet Uz Children's Hospital. Dec2023, Vol. 13 Issue 3, p198-202. 5p.
Czasopismo naukowe
Tytuł:
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.
Autorzy:
Lehtokari, Vilma-Lotta (AUTHOR)
Similä, Minna (AUTHOR)
Tammepuu, Marianne (AUTHOR)
Wallgren-Pettersson, Carina (AUTHOR)
Strang-Karlsson, Sonja (AUTHOR)
Hiekkala, Sinikka (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 11/30/2023, Vol. 18 Issue 1, p1-12. 12p.
Czasopismo naukowe
Tytuł:
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Autorzy:
Robaszkiewicz, Katarzyna (AUTHOR)
Siatkowska, Małgorzata (AUTHOR)
Wadman, Renske I. (AUTHOR)
Kamsteeg, Erik-Jan (AUTHOR)
Chen, Zhiyong (AUTHOR)
Merve, Ashirwad (AUTHOR)
Parton, Matthew (AUTHOR)
Bugiardini, Enrico (AUTHOR)
de Bie, Charlotte (AUTHOR)
Moraczewska, Joanna (AUTHOR)
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Źródło:
International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16147. 15p.
Czasopismo naukowe
Tytuł:
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
Autorzy:
Marotto, Daniela (AUTHOR)
Moschetti, Marta (AUTHOR)
Lo Curto, Alessia (AUTHOR)
Spezzigu, Anna M. (AUTHOR)
Giacomarra, Miriam (AUTHOR)
Marsana, Emanuela M. (AUTHOR)
Zizzo, Carmela (AUTHOR)
Duro, Giovanni (AUTHOR)
Colomba, Paolo (AUTHOR)
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Źródło:
International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15924. 8p.
Czasopismo naukowe
Tytuł:
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.
Autorzy:
Gomes, Gustavo Rodrigues Ferreira (AUTHOR)
Mariano, Tamiris Carneiro (AUTHOR)
Braga, Vitor Lucas Lopes (AUTHOR)
Ribeiro, Erlane Marques (AUTHOR)
Guimarães, Ingred Pimentel (AUTHOR)
Pereira, Késia Sindy Alves Ferreira (AUTHOR)
Nóbrega, Paulo Ribeiro (AUTHOR)
Pessoa, André Luiz Santos (AUTHOR)
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Źródło:
Brain Sciences (2076-3425). Aug2023, Vol. 13 Issue 8, p1184. 7p.
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

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