Published in J Neurosurg on July 01, 2003
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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58
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Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet (2006) 2.17
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Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet (2003) 2.00
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SWAN MRI revealing multiple microhemorrhages secondary to septic emboli from mucormycosis. Neurology (2012) 1.97
Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96
WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci U S A (2005) 1.96
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science (2004) 1.95