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amyotrophia congenita相关文献:
Myophagism congenita.
DALMAIN WA.
Am J Surg. 1947 Apr;73(4):494-8. doi: 10.1016/0002-9610(47)90331-0.
PMID:20290584
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC.
Brain. 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452.
PMID:36445400
Muscle-Bone Interactions in Pediatric Bone Diseases.
Veilleux LN, Rauch F.
Curr Osteoporos Rep. 2017 Oct;15(5):425-432. doi: 10.1007/s11914-017-0396-6.
PMID:28856575
Arthrogryposis multiplex congenita with maxillofacial involvement: a case report.
Cirillo S, Regge D, Garagiola U, Tortarolo A, Iorio GC, Spahiu O, Piancino MG.
Maxillofac Plast Reconstr Surg. 2023 Feb 8;45(1):10. doi: 10.1186/s40902-023-00378-6.
PMID:36752944
Ophthalmic abnormalities in Wieacker-Wolff syndrome.
Comlekoglu T, Kumar V, King K, Al Saif H, Li R, Couser N.
J AAPOS. 2022 Apr;26(2):91-93. doi: 10.1016/j.jaapos.2021.10.010. Epub 2022 Feb 1.
PMID:35121145
Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.
Shukla S, Parker R.
Trends Mol Med. 2016 Jul;22(7):615-628. doi: 10.1016/j.molmed.2016.05.005. Epub 2016 Jun 3.
PMID:27263464
Paramyotonia congenita without cold paralysis: a case report.
Izumi Y, Fukuuchi Y, Koto A, Nakajima S.
Keio J Med. 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94.
PMID:8089960
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T.
Clin Genet. 2016 Sep;90(3):199-210. doi: 10.1111/cge.12801. Epub 2016 Jun 2.
PMID:27197572
Amyotonia congenita.
Bennett EJ, Dalal FY, Schmidt GB.
Middle East J Anaesthesiol. 1974 Jun;4(2):111-7.
PMID:4480604
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S.
Parkinsonism Relat Disord. 2019 May;62:210-214. doi: 10.1016/j.parkreldis.2018.12.007. Epub 2018 Dec 11.
PMID:30573412
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