S. Tomlinson

发表

In vivo assessment of HCN channel current (Ih) in human motor axons

D. Burke, M. Koltzenburg, M. Hanna, 2010, Muscle & nerve.

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

S. Tisch, S. Efthymiou, H. Houlden, 2020, Brain : a journal of neurology.

HCN Channels: Function and clinical implications

D. Burke, S. Tomlinson, J. Howells, 2013, Neurology.

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

D. Burke, D. Kullmann, R. Griggs, 2010, Brain : a journal of neurology.

In vivo assessment of neurological channelopathies: Application of peripheral nerve excitability studies

D. Burke, S. Tomlinson, J. Howells, 2017, Neuropharmacology.

HIV-related neurological disease in the era of HAART.

C. Loy, B. Brew, C. Power, 2005 .

HIV neuropathy: time for new therapies

B. Brew, S. Tomlinson, 2004 .

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

D. Burke, D. Kullmann, R. Griggs, 2016, Brain : a journal of neurology.

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, medRxiv.

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

V. Fung, S. Tisch, M. Kurian, 2022, Molecular genetics & genomic medicine.

Clinical neurophysiology of the episodic ataxias: Insights into ion channel dysfunction in vivo

D. Burke, D. Kullmann, M. Hanna, 2009, Clinical Neurophysiology.

Anti-MAG neuropathy: Role of IgM antibodies, the paranodal junction and juxtaparanodal potassium channels

J. Pollard, C. Yiannikas, M. Kiernan, 2018, Clinical Neurophysiology.

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

J. Holton, S. Rahman, M. Sweeney, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Effectiveness of the progestin-only pill for migraine treatment in women: A systematic review and meta-analysis

B. Brew, K. McGeechan, G. Merki-Feld, 2018, Cephalalgia : an international journal of headache.

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

D. Burke, D. Kullmann, S. Schorge, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

Liam G. Fearnley, P. Lockhart, M. Eberle, 2023, American journal of human genetics.

A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

D. Kullmann, S. Schorge, M. Hanna, 2009, Neurology.

A mitochondrial cytopathy presenting with persistent troponin elevation: case report

K. Muthiah, S. Tomlinson, R. Pamphlett, 2023, European heart journal. Case reports.

087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre

S. Tisch, S. Tomlinson, K. Kumar, 2021, Poster abstracts.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Liam G. Fearnley, P. Lockhart, M. Eberle, 2022, American journal of human genetics.

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

D. Burke, D. Kullmann, H. Bostock, 2010, Brain : a journal of neurology.

Anti-MAG neuropathy: Role of IgM antibodies, the paranodal junction and juxtaparanodal potassium channels

J. Pollard, C. Yiannikas, M. Kiernan, 2018, Clinical Neurophysiology.

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission.

I. Scheffer, D. Burke, D. Kullmann, 2012, Brain : a journal of neurology.

Clinical neurophysiology of the episodic ataxias: Insights into ion channel dysfunction in vivo

D. Burke, D. Kullmann, M. Hanna, 2009, Clinical Neurophysiology.