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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
[Muscle-eye brain disease].
Saito K.
Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):454-6.
PMID:11043293
[Santavuori disease(muscle-eye-brain disease)].
Hayashi YK.
Ryoikibetsu Shokogun Shirizu. 2001;(35):109-10.
PMID:11555883
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
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
Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.
Kalampokini S, Pityrigkas E, Liouta E, Pepe G, Poulidou V, Spilioti M, Kimiskidis VK.
Epileptic Disord. 2026 Mar 7. doi: 10.1002/epd2.70217. Online ahead of print.
PMID:41793234
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
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
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM.
Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006.
PMID:34801143
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