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.
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.
Muscle-eye-brain disease (MEB).
Merton WL, Boyd SG.
Brain Dev. 1990;12(2):274. doi: 10.1016/s0387-7604(12)80336-6.
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.
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.
[Muscle-eye brain disease].
Saito K.
Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):454-6.
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.
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.
[Santavuori disease(muscle-eye-brain disease)].
Hayashi YK.
Ryoikibetsu Shokogun Shirizu. 2001;(35):109-10.
Prenatal diagnosis of muscle-eye-brain disease.
Balci B, Morris-Rosendahl DJ, Celebi A, Talim B, Topaloglu H, Dinçer P.
Prenat Diagn. 2007 Jan;27(1):51-4. doi: 10.1002/pd.1622.
