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S. Tomlinson · SciRah

Researcher profile · Semantic Scholar

S. Tomlinson

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S. Tomlinson — researcher profile on SciRah

h-index: 12
Works: 37
Citations: 737

Most-cited papers

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2022American Journal of Human Genetics144 citations Open access
Semantic Scholar
HCN Channels: Function and clinical implications
D. Burke, J. Howells, S. Tomlinson
2013Neurology105 citations Open access
Semantic Scholar
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
S. Tomlinson, S. V. Tan, D. Kullmann, R. Griggs +3 more
2010Brain : a journal of neurology97 citations Open access
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2023American Journal of Human Genetics60 citations Open access
Semantic Scholar
In vivo assessment of HCN channel current (Ih) in human motor axons
S. Tomlinson, D. Burke, M. Hanna, M. Koltzenburg +1 more
2010Muscle and Nerve59 citations
Semantic Scholar
Effectiveness of the progestin-only pill for migraine treatment in women: A systematic review and meta-analysis
Samantha Warhurst, C. Rofe, B. Brew, D. Bateson +4 more
2018Cephalalgia52 citations Open access
Semantic Scholar
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
S. Tomlinson, S. Rajakulendran, S. V. Tan, T. Graves +8 more
2013Journal of Neurology Neurosurgery & Psychiatry47 citations Open access
Semantic Scholar
Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.
S. Tomlinson, M. Hanna, D. Kullmann, S. V. Tan +1 more
2009Clinical Neurophysiology45 citations
Semantic Scholar
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
K. Kumar, A. Cortese, S. Tomlinson, S. Efthymiou +16 more
2020Brain : a journal of neurology29 citations Open access
Semantic Scholar
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission.
S. Tomlinson, H. Bostock, B. Grinton, M. Hanna +5 more
2012Brain : a journal of neurology21 citations Open access
Semantic Scholar
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
R. Pitceathly, S. Tomlinson, I. Hargreaves, N. Bhardwaj +9 more
2012Journal of Neurology Neurosurgery & Psychiatry21 citations
Semantic Scholar
Anti-MAG neuropathy: Role of IgM antibodies, the paranodal junction and juxtaparanodal potassium channels.
N. Garg, Susanna B. Park, J. Howells, Y. Noto +10 more
2018Clinical Neurophysiology17 citations
Semantic Scholar
A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A
S. Rajakulendran, S. V. Tan, E. Matthews, S. Tomlinson +5 more
2009Neurology11 citations Open access
Semantic Scholar
In vivo assessment of neurological channelopathies: Application of peripheral nerve excitability studies
S. Tomlinson, J. Howells, D. Burke
2017Neuropharmacology9 citations
Semantic Scholar
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
B. Grosz, S. Tisch, Michel Tchan, V. Fung +10 more
2022Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
Informing a value care model: lessons from an integrated adult neurogenomics clinic
Alison McLean, Michel Tchan, S. Devery, Renée Smyth +5 more
2023Internal medicine journal (Print)4 citations Open access
Semantic Scholar
HIV neuropathy: time for new therapies
B. Brew, S. Tomlinson
20044 citations
Semantic Scholar
Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?
M. Fryer, G. Kaye, S. Tomlinson
2015Indian Pacing and Electrophysiology Journal3 citations Open access
Semantic Scholar
A mitochondrial cytopathy presenting with persistent troponin elevation: case report
A. Krishnan, Kathy H C Wu, L. Girgis, R. Pamphlett +2 more
2023European Heart Journal: Case Reports1 citations Open access
Semantic Scholar
087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre
Alison McLean, Michel Tchan, S. Devery, Renée Smyth +4 more
2021Poster abstracts1 citations Open access
Semantic Scholar
089 Breaking the cycle of chronic daily headache with a low-dose subcutaneous lignocaine and ketamine infusion
C. Rofe, R. Garrick, David Burke, B. Brew +1 more
2019Journal of Neurology Neurosurgery & Psychiatry1 citations Open access
Semantic Scholar
HIV-related neurological disease in the era of HAART.
C. Loy, S. Tomlinson, B. Brew, Christopher Power +1 more
20051 citations
Semantic Scholar
009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels
M. A. Farrar, S. Tomlinson, J. Howells, C. Lin +8 more
2019Journal of Neurology Neurosurgery & Psychiatry0 citations Open access
Semantic Scholar
037 Post-transplant lymphoproliferative disorder in skeletal muscle arising seven years after allogeneic stem cell transplant
Alice Powell, J. Sy, Yael Barnett, Simon Mosalski +3 more
2018Journal of Neurology Neurosurgery & Psychiatry0 citations
Semantic Scholar
NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY
R. Pitceathly, S. Tomlinson, Iain P. Hargreaves, N. Bhardwaj +8 more
20120 citations
Semantic Scholar
PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective
S. Rajakulendran, R. Labrum, T. Graves, S. Tomlinson +5 more
2010Journal of Neurology Neurosurgery & Psychiatry0 citations
Semantic Scholar
SS-4 Nerve excitability studies in genetic neuronal ion channel disorders
S. Tomlinson
20100 citations
Semantic Scholar
35. Peripheral nerve excitability testing shows distinctive ion channel dysfunction in patients with KCNQ2 mutations and epilepsy
S. Tomlinson, B. Grinton, H. Bostock, M. Hanna +4 more
20100 citations
Semantic Scholar
84. Dural ectasia in Marfan’s syndrome: Clinical and MRI features
K. Morris, J. Ly, S. Tomlinson
20100 citations
Semantic Scholar
IN VIVO ASSESSMENT OF HCN CHANNEL FUNCTION (IH) IN HUMAN MOTOR AXONS
S. Tomlinson, D. Burke, M. Hanna, M. Koltzenburg +1 more
20090 citations
Semantic Scholar
NOTCH APPEARANCE IN NERVE EXCITABILITY STUDIES: IDENTIFICATION AND IMPORTANCE
S. Tomlinson, D. Burke, J. Howells, L. Trevillion +3 more
20090 citations
Semantic Scholar
Nerve Excitability Measurements Can Distingush Genetic Channelopathies in the Episodic Ataxias
S. Tomlinson, S. V. Tan, D. Kullmann, D. Burke +2 more
20090 citations
Semantic Scholar
A novel POLG1 mutation resulting in severe cachexia and muscle wasting
S. Tomlinson, M. Hanna, J. Holton, S. Rahman
20090 citations
Semantic Scholar
HOW REPRODUCIBLE ARE MULTIPLE NERVE EXCITABILITY PARAMETERS OVER TIME
S. Tomlinson, D. Burke, M. Hanna, H. Bostock +1 more
20090 citations
Semantic Scholar
MO30 Multiple measures of peripheral nerve excitability: reproducibility of repeated tests and assessment of HCN channel current (Ih)
S. Tomlinson, D. Burke, M. Hanna, M. Koltzenburg +1 more
20080 citations
Semantic Scholar
Acute neurology (vol 7, pg 272, 2007)
S. Tomlinson, M. Hanna
20070 citations
Semantic Scholar
Acute neurology.
S. Tomlinson, M. Hanna
2007Clinical medicine (London)0 citations Open access
Semantic Scholar

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