S. Robb

Most-cited papers

1. Development of intelligence and memory in children with hemiplegic cerebral palsy. The deleterious consequences of early seizures.

   F. Vargha-Khadem, Elizabeth B. Isaacs, S. van der Werf, S. Robb +1 more

   1992Brain : a journal of neurology230 citations

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2. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

   D. Lashley, J. Palace, S. Jayawant, S. Robb +1 more

   2010Neurology115 citations Open access

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3. Rapsyn mutations in hereditary myasthenia

   G. Burke, J. Cossins, S. Maxwell, G. Owens +7 more

   2003Neurology85 citations

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4. Distinct phenotypes of congenital acetylcholine receptor deficiency.

   G. Burke, J. Cossins, S. Maxwell, S. Robb +5 more

   2004Neuromuscular Disorders71 citations

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5. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

   Clare V. Logan, J. Cossins, P. Rodríguez-Cruz, David A. Parry +15 more

   2015American Journal of Human Genetics70 citations Open access

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6. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum

   Kathryn J. Peall, D. Lumsden, R. Kneen, R. Madhu +12 more

   2014Developmental Medicine & Child Neurology57 citations Open access

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7. Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

   C. Jephson, N. Mills, Matthew Pitt, D. Beeson +4 more

   2010International Journal of Pediatric Otorhinolaryngology44 citations

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8. Congenital myopathies

   Irene Colombo, M. Scoto, A. Manzur, S. Robb +8 more

   2015Neurology28 citations Open access

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9. Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

   J. Poulos, Martin Samuels, J. Palace, D. Beeson +4 more

   2023Brain Communications8 citations Open access

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10. Circulating T cell subsets in the Lambert-Eaton myasthenic syndrome.

    S. Robb, T. J. Bowley, H. Willcox, J. Newsomdavis

    1985Journal of Neurology Neurosurgery & Psychiatry6 citations Open access

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11. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge

    Ravinesh A. Kumar, D. T. Pilz, Timothy D. Babatz, T. Cushion +6 more

    20102 citations

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12. G.P.73 Abnormal neuromuscular transmission in infants with Prader–Willi syndrome

    B. Rajendran, H. Young, T. Tidswell, A. Mansur +2 more

    20121 citations

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13. P51 Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms

    Judy Cossins, D. Lashley, Hayley Spearman, S. Maxwell +3 more

    20101 citations

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14. P35 The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment

    D. Beeson, Judy Cossins, S. Maxwell, W.-W. Liu +4 more

    20120 citations

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15. Development of intelligence and meoiry in hemiplegic children: The deleterious consequences of early onset unilateral lesions and seizures

    F. Vargha-Khadem, E. Isaacs, S. Robb, John Wilson

    19910 citations

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