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muscle-eye-brain disease相关文献:
Muscle-Eye-Brain disease.
Shenoy AM, Markowitz JA, Bonnemann CG, Krishnamoorthy K, Bossler AD, Tseng BS.
J Clin Neuromuscul Dis. 2010 Mar;11(3):124-6. doi: 10.1097/CND.0b013e3181c5054d.
PMID:20215985
Muscle-eye-brain disease (MEB).
Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J.
Brain Dev. 1989;11(3):147-53. doi: 10.1016/s0387-7604(89)80088-9.
PMID:2751061
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A.
Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7.
PMID:33168220
Muscle-eye-brain disease (MEB).
Merton WL, Boyd SG.
Brain Dev. 1990;12(2):274. doi: 10.1016/s0387-7604(12)80336-6.
PMID:2360704
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.
Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J.
Neuropediatrics. 2018 Aug;49(4):289-295. doi: 10.1055/s-0038-1651519. Epub 2018 May 23.
PMID:29791932
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.
Mol Genet Genomics. 2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21.
PMID:23689641
[Muscle-eye brain disease].
Saito K.
Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):454-6.
PMID:11043293
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.
Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, Alexander JL.
J Pediatr Ophthalmol Strabismus. 2023 Jul-Aug;60(4):e35-e37. doi: 10.3928/01913913-20230518-01. Epub 2023 Jul 1.
PMID:37478202
Muscle-eye-brain disease and Walker-Warburg syndrome.
Santavuori P, Pihko H, Sainio K, Lappi M, Somer H, Haltia M, Raitta C, Ketonen L, Leisti J.
Am J Med Genet. 1990 Jul;36(3):371-4. doi: 10.1002/ajmg.1320360334.
PMID:2363444
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).
Arvio M, Määttänen L, Haanpää M, Lähdetie J.
Am J Med Genet A. 2019 Dec;179(12):2481-2485. doi: 10.1002/ajmg.a.61369. Epub 2019 Oct 3.
PMID:31580529
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