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Journal Abstract Search

146 related items for PubMed ID: 38065855

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  • 8. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
    Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC.
    Clin Neurol Neurosurg; 2020 May; 192():105734. PubMed ID: 32065942
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  • 9. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov; 45(11):935-7. PubMed ID: 16447767
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  • 10. A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
    Sirisena ND, Samaranayake UMJE, Neto OLA, Foley AR, Pathirana BAPS, Neththikumara N, Paththinige CS, Rathnayake P, Donkervoort S, Bönnemann CG, Dissanayake VHW.
    BMC Neurol; 2021 Mar 09; 21(1):105. PubMed ID: 33750322
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  • 11. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
    Barington M, Dunø M, Birkedal U, Vissing J, Born AP, Krag T, Hansen TVO, Østergaard E.
    Neuromuscul Disord; 2023 Jul 09; 33(7):539-545. PubMed ID: 37315421
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  • 12. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
    Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH.
    Muscle Nerve; 2018 Sep 09; 58(3):381-388. PubMed ID: 29406609
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  • 14. Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report.
    Hu J, Chen YH, Fang X, Zhou Y, Chen F.
    World J Clin Cases; 2022 Jan 07; 10(1):338-344. PubMed ID: 35071537
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  • 15. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep 07; 29(9):657-663. PubMed ID: 31471117
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  • 19. Bethlem myopathy in a Portuguese patient - case report.
    Martins AI, Maarque C, Pinto-Basto J, Negrão L.
    Acta Myol; 2017 Sep 07; 36(3):178-181. PubMed ID: 29774307
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