William Dobyns to Muscular Dystrophies
This is a "connection" page, showing publications William Dobyns has written about Muscular Dystrophies.
Connection Strength
1.411
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Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). J Neuropathol Exp Neurol. 2020 09 01; 79(9):998-1010.
Score: 0.189
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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. 2017 Feb 14; 88(7):623-629.
Score: 0.147
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Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5.
Score: 0.139
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Congenital muscular dystrophies: clinical review and proposed classification. Pediatr Neurol. 1995 Sep; 13(2):97-103.
Score: 0.134
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
Score: 0.113
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65.
Score: 0.112
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Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210.
Score: 0.085
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.069
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.
Score: 0.064
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115.
Score: 0.063
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May; 41(5):e61.
Score: 0.061
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003 Nov; 40(11):845-8.
Score: 0.059
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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem. 2003 Jul; 36(5):339-44.
Score: 0.058
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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001 Apr 24; 56(8):1059-69.
Score: 0.049
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Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47.
Score: 0.033
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41.
Score: 0.021
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Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet. 1985 Sep; 22(1):157-95.
Score: 0.017