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Wyświetlanie 1-20 z 22652

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Tytuł:
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
Autorzy:
Baker EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.
Al Gharaibeh FN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Neonatology, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States.
Bove K; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, Ohio, United States.
Calvo-Garcia MA; Radiology Department, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.
Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.
VandenHeuvel K; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, Ohio, United States.
Cortezzo DE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Neonatology, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States.; Department of Anesthesia, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Pain and Palliative Medicine, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1646-1651. Date of Electronic Publication: 2023 Mar 25.
Typ publikacji:
Case Reports
MeSH Terms:
Myopathy, Central Core*/diagnosis
Myopathy, Central Core*/genetics
Malignant Hyperthermia*/diagnosis
Malignant Hyperthermia*/genetics
Female ; Humans ; Pregnancy ; Ryanodine Receptor Calcium Release Channel/genetics ; Muscle Hypotonia ; Chromosome Mapping ; Labor Presentation ; Mutation
Raport
Szczegóły
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
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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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Autorzy:
Perry, Luke (AUTHOR)
Stimpson, Georgia (AUTHOR)
Singh, Leeha (AUTHOR)
Morrow, Jasper M. (AUTHOR)
Shah, Sachit (AUTHOR)
Baranello, Giovanni (AUTHOR)
Muntoni, Francesco (AUTHOR)
Sarkozy, Anna (AUTHOR)
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Źródło:
Annals of Clinical & Translational Neurology. Jul2023, Vol. 10 Issue 7, p1219-1229. 11p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment.
Autorzy:
Nandy, Anirban (AUTHOR)
Tankisi, Hatice (AUTHOR)
Krøigård, Anne Bruun (AUTHOR)
Dalager, Maiken Glud (AUTHOR)
Hvidbjerg, Marie Skov (AUTHOR)
Schrøder, Henrik Daa (AUTHOR)
Obál, Izabella (AUTHOR)
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Źródło:
BMC Neurology. 6/16/2023, Vol. 23 Issue 1, p1-8. 8p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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; Research Support, Non-U.S. Gov't
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
Szczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning.
Autorzy:
Lupi, Amalia (AUTHOR)
Spolaor, Simone (AUTHOR)
Favero, Alessandro (AUTHOR)
Bello, Luca (AUTHOR)
Stramare, Roberto (AUTHOR)
Pegoraro, Elena (AUTHOR)
Nobile, Marco Salvatore (AUTHOR)
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Źródło:
PLoS ONE. 5/8/2023, Vol. 17 Issue 5, p1-11. 11p.
Czasopismo naukowe
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Tytuł:
HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report.
Autorzy:
Matsuura, Eiji (AUTHOR)
Nozuma, Satoshi (AUTHOR)
Shigehisa, Ayano (AUTHOR)
Dozono, Mika (AUTHOR)
Nakamura, Tomonori (AUTHOR)
Tanaka, Masakazu (AUTHOR)
Kubota, Ryuji (AUTHOR)
Hashiguchi, Akihiro (AUTHOR)
Takashima, Hiroshi (AUTHOR)
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Źródło:
BMC Musculoskeletal Disorders. 5/6/2023, Vol. 24 Issue 1, p1-6. 6p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.
Autorzy:
Chen, Zhiyong (AUTHOR)
Saini, Monica (AUTHOR)
Koh, Jasmine Shimin (AUTHOR)
Lim, Gareth Zigui (AUTHOR)
Dang, Nancy Jiaojiao (AUTHOR)
Prasad, Kalpana (AUTHOR)
Koh, Swee Hoon (AUTHOR)
Tay, Karine Su Shan (AUTHOR)
Lee, Ming (AUTHOR)
Ong, Helen Lisa (AUTHOR)
Zhao, Yi (AUTHOR)
Tandon, Ankit (AUTHOR)
Chai, Josiah Yui Huei (AUTHOR)
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Źródło:
BMC Neurology. 5/5/2023, Vol. 23 Issue 1, p1-8. 8p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Autorzy:
Sellung, Dominik (AUTHOR)
Heil, Lorena (AUTHOR)
Daya, Nassam (AUTHOR)
Jacobsen, Frank (AUTHOR)
Mertens-Rill, Janine (AUTHOR)
Zhuge, Heidi (AUTHOR)
Döring, Kristina (AUTHOR)
Piran, Misagh (AUTHOR)
Milting, Hendrik (AUTHOR)
Unger, Andreas (AUTHOR)
Linke, Wolfgang A. (AUTHOR)
Kley, Rudi (AUTHOR)
Preusse, Corinna (AUTHOR)
Roos, Andreas (AUTHOR)
Fürst, Dieter O. (AUTHOR)
Ven, Peter F. M. van der (AUTHOR)
Vorgerd, Matthias (AUTHOR)
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Źródło:
Cells (2073-4409). May2023, Vol. 12 Issue 9, p1321. 20p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Autorzy:
Cardone, Nastasia (AUTHOR)
Moula, Melissa (AUTHOR)
Baelde, Rianne J. (AUTHOR)
Biquand, Ariane (AUTHOR)
Villanova, Marcello (AUTHOR)
Metay, Corinne (AUTHOR)
Fiorillo, Chiara (AUTHOR)
Baratto, Serena (AUTHOR)
Merlini, Luciano (AUTHOR)
Sabatelli, Patrizia (AUTHOR)
Romero, Norma B. (AUTHOR)
Relaix, Frederic (AUTHOR)
Authier, François Jérôme (AUTHOR)
Taglietti, Valentina (AUTHOR)
Savarese, Marco (AUTHOR)
de Winter, Josine (AUTHOR)
Ottenheijm, Coen (AUTHOR)
Richard, Isabelle (AUTHOR)
Malfatti, Edoardo (AUTHOR)
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Źródło:
Acta Neuropathologica Communications. 3/21/2023, Vol. 11 Issue 1, p1-10. 10p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.
Autorzy:
Karpicheva, Olga E. (AUTHOR)
Avrova, Stanislava V. (AUTHOR)
Bogdanov, Andrey L. (AUTHOR)
Sirenko, Vladimir V. (AUTHOR)
Redwood, Charles S. (AUTHOR)
Borovikov, Yurii S. (AUTHOR)
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Źródło:
International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5829. 24p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.
Autorzy:
Nicolau, Stefan (AUTHOR)
Dasgupta, Aneesha (AUTHOR)
Dasari, Surendra (AUTHOR)
Charlesworth, M. Cristine (AUTHOR)
Johnson, Kenneth L. (AUTHOR)
Pandey, Akhilesh (AUTHOR)
Doles, Jason D. (AUTHOR)
Milone, Margherita (AUTHOR)
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Źródło:
Acta Neuropathologica Communications. 1/26/2023, Vol. 11 Issue 1, p1-16. 16p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 22652

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