This page shows the publications Kathryn Swoboda has written about Genes, Recessive.
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579.
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72.
The critical role of membralin in postnatal motor neuron survival and disease. Elife. 2015 May 15; 4.
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord. 2009 Apr; 19(4):279-87.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct; 35(2):185-9.
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