Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

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

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J.

Am J Hum Genet ; 110(1): 105-119, 2023 01 05.

Artigo em Inglês | MEDLINE | ID: mdl-36493768

2.

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

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J.

Am J Hum Genet ; 110(6): 1018, 2023 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-37267898

3.

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

Warhurst, Samantha; Rofe, Christopher J; Brew, Bruce J; Bateson, Deborah; McGeechan, Kevin; Merki-Feld, Gabriele S; Garrick, Raymond; Tomlinson, Susan E.

Cephalalgia ; 38(4): 754-764, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-28554244

4.

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

Tomlinson, Susan E; Tan, S Veronica; Burke, David; Labrum, Robyn W; Haworth, Andrea; Gibbons, Vaneesha S; Sweeney, Mary G; Griggs, Robert C; Kullmann, Dimitri M; Bostock, Hugh; Hanna, Michael G.

Brain ; 139(Pt 2): 380-91, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26912519

5.

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

Kumar, Kishore R; Cortese, Andrea; Tomlinson, Susan E; Efthymiou, Stephanie; Ellis, Melina; Zhu, Danqing; Stoll, Marion; Dominik, Natalia; Tisch, Stephen; Tchan, Michel; Wu, Kathy H C; Devery, Sophie; Spring, Penelope J; Hawke, Simon; Cremer, Phillip; Ng, Karl; Reilly, Mary M; Nicholson, Garth A; Houlden, Henry; Kennerson, Marina.

Brain ; 143(10): e82, 2020 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-32949124

6.

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase Î³ mutations.

Pitceathly, Robert D S; Tomlinson, Susan E; Hargreaves, Iain; Bhardwaj, Nisha; Holton, Janice L; Morrow, Jasper M; Evans, Julie; Smith, Conrad; Fratter, Carl; Woodward, Cathy E; Sweeney, Mary G; Rahman, Shamima; Hanna, Michael G.

J Neurol Neurosurg Psychiatry ; 84(1): 107-10, 2013 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22933815

7.

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

Tomlinson, Susan E; Bostock, Hugh; Grinton, Bronwyn; Hanna, Michael G; Kullmann, Dimitri M; Kiernan, Matthew C; Scheffer, Ingrid E; Berkovic, Samuel F; Burke, David.

Brain ; 135(Pt 10): 3144-52, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23065794

8.

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

Grosz, Bianca R; Tisch, Stephen; Tchan, Michel C; Fung, Victor S C; Darveniza, Paul; Fellner, Avi; Kurian, Manju A; McLean, Alison; Tomlinson, Susan E; Smyth, Renee; Devery, Sophie; Wu, Kathy H C; Kennerson, Marina L; Kumar, Kishore R.

Mol Genet Genomic Med ; 10(5): e1923, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35293157

9.

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

Tomlinson, Susan E; Tan, S Veronica; Kullmann, Dimitri M; Griggs, Robert C; Burke, David; Hanna, Michael G; Bostock, Hugh.

Brain ; 133(Pt 12): 3530-40, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21106501

10.

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

Tomlinson, Susan E; Howells, James; Burke, David.

Neuropharmacology ; 132: 98-107, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-28476643

11.

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

Garg, Nidhi; Park, Susanna B; Howells, James; Noto, Yu-Ichi; Vucic, Steve; Yiannikas, Con; Tomlinson, Susan E; Huynh, William; Simon, Neil G; Mathey, Emily K; Spies, Judith; Pollard, John D; Krishnan, Arun V; Kiernan, Matthew C.

Clin Neurophysiol ; 129(10): 2162-2169, 2018 10.

Artigo em Inglês | MEDLINE | ID: mdl-30144659

12.

Acute neurology.

Tomlinson, Susan E; Hanna, Michael G.

Clin Med (Lond) ; 7(3): 272-7, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17633950

13.

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

Tomlinson, Susan E; Hanna, Michael G; Kullmann, Dimitri M; Tan, S Veronica; Burke, David.

Clin Neurophysiol ; 120(10): 1768-76, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19734086

14.

Re: HCN channels: function and clinical implications.

Burke, David; Howells, James; Tomlinson, Susan E.

Neurology ; 81(5): 513-4, 2013 Jul 30.

Artigo em Inglês | MEDLINE | ID: mdl-23897879

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