Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing von Labrum, R W, Rajakulendran, S, Graves, T D, Eunson, L H, Bevan, R, Sweeney, M G, Hammans, S R, Tubridy, N, Britton, T, Carr, L J, Ostergaard, J R, Kennedy, C R, Al-Memar, A, Kullmann, D M, Schorge, S, Temple, K, Davis, M B, Hanna, M G

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Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease von Kimber, J, McLean, B N, Prevett, M, Hammans, S R

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PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY von TERRACCIANO, A, FOULDS, N. C, DITCHFIELD, A, BUNYAN, D. J, CROLLA, J. A, HUANG, S, SANTORELLI, F. M, HAMMANS, S. R

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Calpainopathy presenting as foot drop in a 41 year old von Burke, G, Hillier, C, Cole, J, Sampson, M, Bridges, L, Bushby, K, Barresi, R, Hammans, S.R

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X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? von Hellier, K D, Hatchwell, E, Duncombe, A S, Kew, J, Hammans, S R

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The inherited ataxias and the new genetics von Hammans, S R

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Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples von Hammans, S.R., Sweeney, M.G., Brockington, M., Morgan-Hughes, J.A., Harding, A.E.

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Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE) von Fairbanks, L. D., Marinaki, A. M., Carrey, E. A., Hammans, S. R., Duley, J. A.

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Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia von Hammans, S R, Kennedy, C R

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Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation von Robinson, D O, Wills, A J, Hammans, S R, Read, S P, Sillibourne, J

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Oculopharyngeal muscular dystrophy : Phenotypic and genotypic studies in a UK population von HILL, M. E, CREED, G. A, MCMULLAN, T. F. W, TYERS, A. G, HILTON-JONES, D, ROBINSON, D. O, HAMMANS, S. R

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MYOTONIC DYSTROPHY, 3rd edition von Hammans, S. R.

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Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy von Sweeney, M.G., Hammans, S.R., Duchen, L.W., Cooper, J.M., Schapira, A.H.V., Kennedy, C.R., Jacobs, J.M., Youl, B.D., Morgan-Hughes, J.A., Harding, A.E.

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A MOLECULAR GENETIC STUDY OF FOCAL HISTOCHEMICAL DEFECTS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES von HAMMANS, S. R., SWEENEY, M. G., WICKS, D. A. G., MORGAN-HUGHES, J. A., HARDING, A. E.

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An unusual familial oculopharyngeal syndrome von Cooper, S. A., Hill, M. E., Weller, R. O., Hammans, S. R.

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A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome von Chalmers, R M, Lamont, P J, Nelson, I, Ellison, D W, Thomas, N H, Harding, A E, Hammans, S R

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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA von McShane, M A, Hammans, S R, Sweeney, M, Holt, I J, Beattie, T J, Brett, E M, Harding, A E

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Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy von Hammans, S.R., Sweeney, M.G., Holt, I.J., Cooper, J.M., Toscano, A., Clark, J.B., Morgan-Hughes, J.A., Harding, A.E.

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A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy von Hammans, S R, Robinson, D O, Moutou, C, Kennedy, C R, Dennis, N R, Hughes, P J, Ellison, D W

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New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN von HOGARTH, Penelope, GREGORY, Allison, FOULDS, Nicola C, HAMMANS, Simon R, DESGUERRE, Isabelle, RODRIGUEZ, Diana, WILSON, Callum, DIEDRICH, Andrea, GREEN, Sarah, TRAN, Huong, REESE, Lindsay, WOLTJER, Randall L, KRUER, Michael C, HAYFLICK, Susan J, SANFORD, Lynn, WAGONER, Wendy, NATOWICZ, Marvin R, EGEL, Robert T, SUBRAMONY, S. H, GOLDMAN, Jennifer G, BERRY-KRAVIS, Elizabeth

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