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Simon Hammans

Research Profile

Chemicals & Drugs

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Publications

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Penelope Hogarth; Michael C Kruer; Marvin R Natowicz; Lindsay Reese; Diana Rodriguez; Lynn Sanford; S H Subramony; Huong Tran; Wendy Wagoner; Callum Wilson; Randall L Woltjer; Elizabeth Berry-Kravis; Isabelle Desguerre; Andrea Diedrich; Robert T Egel; Nicola C Foulds; Jennifer G Goldman; Sarah Green; Allison Gregory; Simon R Hammans; Susan J Hayflick
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Nicola R Cohen; Simon R Hammans; JN Macpherson; Nicoll James
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions.
G Burke; C Hillier; J Cole; M Sampson; L Bridges; K Bushby; R Barresi; Simon R Hammans
Calpainopathy presenting as foot drop in a 41 year old.

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All Publications

2013: Penelope Hogarth; Michael C Kruer; Marvin R Natowicz; Lindsay Reese; Diana Rodriguez; Lynn Sanford; S H Subramony; Huong Tran; Wendy Wagoner; Callum Wilson; Randall L Woltjer; Elizabeth Berry-Kravis; Isabelle Desguerre; Andrea Diedrich; Robert T Egel; Nicola C Foulds; Jennifer G Goldman; Sarah Green; Allison Gregory; Simon R Hammans; Susan J Hayflick
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology 2013;80(3):268-75.
2011: Nicola R Cohen; Simon R Hammans; JN Macpherson; Nicoll James
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions.
Acta neuropathologica 2011;121(3):421-7.
2010: G Burke; C Hillier; J Cole; M Sampson; L Bridges; K Bushby; R Barresi; Simon R Hammans
Calpainopathy presenting as foot drop in a 41 year old.
Neuromuscular disorders : NMD 2010;20(6):407-10.
2009: J Self; C Mercer; E M J Boon; M Murugavel; F Shawkat; Simon R Hammans; Peter R Hodgkins; H Griffiths; Andrew J Lotery
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
Eye (London, England) 2009;23(12):2251-5.
2006: S A Cooper; M E Hill; R O Weller; Simon R Hammans
An unusual familial oculopharyngeal syndrome.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2006;13(5):549-50.
2006: David O Robinson; A J Wills; Simon R Hammans; S P Read; Julie Sillibourne
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation.
Journal of medical genetics 2006;43(5):e23.
2005: David O Robinson; Simon R Hammans; Steven P Read; Julie Sillibourne
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
Human genetics 2005;116(4):267-71.
2003: J Kimber; B N McLean; Martin Prevett; Simon R Hammans
Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.
Journal of neurology, neurosurgery, and psychiatry 2003;74(5):654-7.
2001: M E Hill; G A Creed; Tristan F W McMullan; Anthony G Tyers; D Hilton-Jones; David O Robinson; Simon R Hammans
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.
Brain : a journal of neurology 2001;124(Pt 3):522-6.
2001: K D Hellier; E Hatchwell; Andrew S Duncombe; J Kew; Simon R Hammans
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
Journal of neurology, neurosurgery, and psychiatry 2001;70(1):65-9.
2000: Simon R Hammans; David O Robinson; C Moutou; C R Kennedy; N R Dennis; P J Hughes; DW Ellison
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.
Neuromuscular disorders : NMD 2000;10(2):133-7.
1998: Simon R Hammans; C R Kennedy
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.
Journal of neurology, neurosurgery, and psychiatry 1998;64(3):368-70.
1997: R M Chalmers; P J Lamont; Isabelle P Nelson; DW Ellison; N H Thomas; AE Harding; Simon R Hammans
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
Neurology 1997;49(2):589-92.