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A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11.
Am J Hum Genet. 2013.
PMID: 23582646
Free PMC article.
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.
Hamilton EM, et al.
Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.
Brain. 2014.
PMID: 24785942
Free PMC article.
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Mitochondrial diseases in childhood: a clinical approach to investigation and management.
Kisler JE, Whittaker RG, McFarland R.
Kisler JE, et al.
Dev Med Child Neurol. 2010 May;52(5):422-33. doi: 10.1111/j.1469-8749.2009.03605.x. Epub 2010 Jan 5.
Dev Med Child Neurol. 2010.
PMID: 20163433
Free article.
Review.
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Early intervention to improve hand function in hemiplegic cerebral palsy.
Basu AP, Pearse J, Kelly S, Wisher V, Kisler J.
Basu AP, et al. Among authors: kisler j.
Front Neurol. 2015 Jan 6;5:281. doi: 10.3389/fneur.2014.00281. eCollection 2014.
Front Neurol. 2015.
PMID: 25610423
Free PMC article.
Review.
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Where did the oral tube originate from?
Sohal AP, Whittle V, Nicholson C, Kisler J.
Sohal AP, et al. Among authors: kisler j.
J Paediatr Child Health. 2015 Jul;51(7):738, 740. doi: 10.1111/jpc.12576.
J Paediatr Child Health. 2015.
PMID: 26135149
No abstract available.
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