Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
Kinali, M., Jungbluth, H., Eunson, L.H., Sewry, C.A., Manzur, A.Y., Mercuri, E., Hanna, M.G., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2004)
Published in Neuromuscular disorders : NMD (01.10.2004)
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Journal Article
New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation
Pulkes, T., Liolitsa, D., Eunson, L.H., Rose, M., Nelson, I.P., Rahman, S., Poulton, J., Marchington, D.R., Landon, D.N., Debono, A.G., Morgan-Hughes, J.A., Hanna, M.G.
Published in Neuromuscular disorders : NMD (01.05.2005)
Published in Neuromuscular disorders : NMD (01.05.2005)
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Journal Article
New phenotypic diversity associated with the mitochondrial tRNA Ser(UCN) gene mutation
Pulkes, T., Liolitsa, D., Eunson, L.H., Rose, M., Nelson, I.P., Rahman, S., Poulton, J., Marchington, D.R., Landon, D.N., Debono, A.G., Morgan-Hughes, J.A., Hanna, M.G.
Published in Neuromuscular disorders : NMD (2005)
Published in Neuromuscular disorders : NMD (2005)
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397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy
Zuberi, S.M., Eunson, L.H., Hanna, M.G., Stephenson, J.B.P., Ramesh, V.
Published in European journal of paediatric neurology (1999)
Published in European journal of paediatric neurology (1999)
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