William Dobyns to Middle Aged
This is a "connection" page, showing publications William Dobyns has written about Middle Aged.
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0.149
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
Score: 0.012
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Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477.
Score: 0.011
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Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Ann Neurol. 1998 Apr; 43(4):521-6.
Score: 0.011
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Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9.
Score: 0.010
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Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord. 1996 Mar; 11(2):151-6.
Score: 0.009
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Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol. 2015 Feb; 36(2):309-16.
Score: 0.008
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Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec; 43(12):2596-602.
Score: 0.008
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823.
Score: 0.008
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.007
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012 Sep 18; 79(12):1244-51.
Score: 0.007
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Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol. 2011 Jun; 70(6):438-43.
Score: 0.007
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Familial hydrocephalus with normal cognition and distinctive radiological features. Am J Med Genet A. 2010 Nov; 152A(11):2743-8.
Score: 0.006
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A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 2009 May; 149A(5):919-25.
Score: 0.006
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35.
Score: 0.005
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906.
Score: 0.005
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Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57.
Score: 0.004
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6.
Score: 0.004
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.004
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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55.
Score: 0.003
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul; 48(1):39-48.
Score: 0.003
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Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug; 46(2):176-82.
Score: 0.003
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Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc. 1979 Jan; 54(1):35-42.
Score: 0.003
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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec; 42(6):933-50.
Score: 0.003
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18.
Score: 0.002