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Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Published in:
2008
By:
- Houlden, Henry;
- Johnson, Janel;
- Gardner-Thorpe, Christopher;
- Lashley, Tammaryn;
- Hernandez, Dena;
- Worth, Paul;
- Singleton, Andrew B.;
- Hilton, David A.;
- Holton, Janice;
- Revesz, Tamas;
- Davis, Mary B.;
- Giunti, Paolo;
- Wood, Nicholas W.
Publication type:
Correction Notice
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Published in:
Nature Genetics, 2007, v. 39, n. 12, p. 1434, doi. 10.1038/ng.2007.43
By:
- Houlden, Henry;
- Johnson, Janel;
- Gardner-Thorpe, Christopher;
- Lashley, Tammaryn;
- Hernandez, Dena;
- Worth, Paul;
- Singleton, Andrew B.;
- Hilton, David A.;
- Holton, Janice;
- Revesz, Tamas;
- Davis, Mary B.;
- Giunti, Paolo;
- Wood, Nicholas W.
Publication type:
Article
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.
Published in:
Nature Genetics, 2000, v. 24, n. 3, p. 214, doi. 10.1038/73411
By:
- Worth, Paul F.;
- Houlden, Henry;
- Giunti, Paola;
- Davis, Mary B.;
- Wood, Nicholas W.
Publication type:
Article
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer.
Published in:
Nature, 1987, v. 330, n. 6148, p. 578, doi. 10.1038/330578a0
By:
- Kok, Klaas;
- Osinga, Jan;
- Carritt, Ben;
- Davis, Mary B.;
- van der Hout, Annemarie H.;
- van der Veen, Anneke Y.;
- Landsvater, Rudy M.;
- de Leij, Lou F. M. H.;
- Berendsen, Henk H.;
- Postmus, Pieter E.;
- Poppema, Sibrand;
- Buys, Charles H. C. M.
Publication type:
Article
Nicholas T. Potter (editor) Methods in molecular biology, volume 217. Neurogenetics: methods and protocols: Humana Press, ISBN 0-89603-990-0, hardcover (2002).
Published in:
2003
By:
- Davis, Mary B.
Publication type:
Book Review
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.
Published in:
Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00200
By:
- Nethisinghe, Suran;
- Pigazzini, Maria Lucia;
- Pemble, Sally;
- Sweeney, Mary G.;
- Labrum, Robyn;
- Manso, Katarina;
- Moore, David;
- Warner, Jon;
- Davis, Mary B.;
- Giunti, Paola
Publication type:
Article
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Published in:
Brain: A Journal of Neurology, 2011, v. 134, n. 10, p. 2982, doi. 10.1093/brain/awr129
By:
- Catarino, Claudia B.;
- Liu, Joan Y.W.;
- Liagkouras, Ioannis;
- Gibbons, Vaneesha S.;
- Labrum, Robyn W.;
- Ellis, Rachael;
- Woodward, Cathy;
- Davis, Mary B.;
- Smith, Shelagh J.;
- Cross, J. Helen;
- Appleton, Richard E.;
- Yendle, Simone C.;
- McMahon, Jacinta M.;
- Bellows, Susannah T.;
- Jacques, Thomas S.;
- Zuberi, Sameer M.;
- Koepp, Matthias J.;
- Martinian, Lillian;
- Scheffer, Ingrid E.;
- Thom, Maria
Publication type:
Article
Coexistent hereditary and inflammatory neuropathy.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 193, doi. 10.1093/brain/awh017
By:
- Lionel Ginsberg;
- Omar Malik;
- Anthony R. Kenton;
- David Sharp;
- John R. Muddle;
- Mary B. Davis;
- John B. Winer;
- Richard W. Orrell;
- Rosalind H. M. King
Publication type:
Article
Weathering Effects on Degradation of Low-Density Polyethylene-Nanosilica Composite with Added Pro-oxidant.
Published in:
Journal of Polymers & the Environment, 2023, v. 31, n. 10, p. 4184, doi. 10.1007/s10924-023-02864-4
By:
- Zepp, Richard G.;
- Acrey, Brad;
- Davis, Mary J. B.;
- Andrady, Anthony L.;
- Locklin, Jason;
- Arnold, Rachelle;
- Okungbowa, Osadolor;
- Commodore, Adwoa
Publication type:
Article
Partial epilepsy with pericentral spikes: A new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.
Published in:
Annals of Neurology, 2002, v. 51, n. 6, p. 740, doi. 10.1002/ana.10221
By:
- Kinton, Lucy;
- Johnson, Michael R.;
- Smith, Shelagh J. M.;
- Farrell, Fiona;
- Stevens, John;
- Rance, James B.;
- Claudino, Angelica M.;
- Duncan, John S.;
- Davis, Mary B.;
- Wood, Nicholas W.;
- Sander, Josemir W. A.
Publication type:
Article
PARK6-linked parkinsonism occurs in several European families.
Published in:
2002
By:
- Valente, Enza Maria;
- Brancati, Francesco;
- Ferraris, Alessandro;
- Graham, Elizabeth A.;
- Davis, Mary B.;
- Breteler, Monique M.B.;
- Gasser, Thomas;
- Bonifati, Vincenzo;
- Bentivoglio, Anna Rita;
- De Michele, Giuseppe;
- Dürr, Alexandra;
- Cortelli, Pietro;
- Wassilowsky, Dietmar;
- Harhangi, Biswadjiet S.;
- Rawal, Nina;
- Caputo, Viviana;
- Filla, Alessandro;
- Meco, Giuseppe;
- Oostra, Ben A.;
- Brice, Alexis
Publication type:
journal article
Revealing Interfacial Interactions in Random Copolymer Adsorbed Layers by Solvent Leaching.
Published in:
Macromolecular Rapid Communications, 2020, v. 41, n. 6, p. 1, doi. 10.1002/marc.201900582
By:
- Davis, Mary J. B.;
- Randazzo, Katelyn;
- Zuo, Biao;
- Priestley, Rodney D.
Publication type:
Article
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
Published in:
Journal of Physiology, 2010, v. 588, n. 11, p. 1905, doi. 10.1113/jphysiol.2009.186437
By:
- Rajakulendran, Sanjeev;
- Graves, Tracey D.;
- Labrum, Robyn W.;
- Kotzadimitriou, Dimitrios;
- Eunson, Louise;
- Davis, Mary B.;
- Davies, Rosalyn;
- Wood, Nicholas W.;
- Kullmann, Dimitri M.;
- Hanna, Michael G.;
- Schorge, Stephanie
Publication type:
Article
The Role of Interruptions in polyQ in the Pathology of SCA1.
Published in:
PLoS Genetics, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pgen.1003648
By:
- Menon, Rajesh P.;
- Nethisinghe, Suran;
- Faggiano, Serena;
- Vannocci, Tommaso;
- Rezaei, Human;
- Pemble, Sally;
- Sweeney, Mary G.;
- Wood, Nicholas W.;
- Davis, Mary B.;
- Pastore, Annalisa;
- Giunti, Paola
Publication type:
Article
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 12, p. 1219, doi. 10.1093/hmg/ddh134
By:
- Beck, Jonathan A.;
- Poulter, Mark;
- Campbell, Tracy A.;
- Uphill, James B.;
- Adamson, Gary;
- Geddes, Jennian F.;
- Revesz, Tamas;
- Davis, Mary B.;
- Wood, Nicholas W.;
- Collinge, John;
- Tabrizi, Sarah J.
Publication type:
Article
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 15, p. 1917, doi. 10.1093/hmg/ddg198
By:
- Lee, Ming-Jen;
- Stephenson, Dennis A.;
- Groves, Michael J.;
- Sweeney, Mary G.;
- Davis, Mary B.;
- An, Shu-Fang;
- Houlden, Henry;
- Salih, Mustafa A. M.;
- Timmerman, Vincent;
- de Jonghe, Peter;
- Auer-Grumbach, Michaela;
- Di Maria, Emilio;
- Scaravilli, Francesco;
- Wood, Nicholas W.;
- Reilly, Mary M.
Publication type:
Article
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset.
Published in:
Annals of Neurology, 2001, v. 49, n. 3, p. 362, doi. 10.1002/ana.73
By:
- Valente, Enza Maria;
- Bentivoglio, Anna Rita;
- Cassetta, Emanuele;
- Dixon, Peter H.;
- Davis, Mary B.;
- Ferraris, Alessandro;
- Ialongo, Tamara;
- Frontali, Marina;
- Wood, Nicholas W.;
- Albanese, Alberto
Publication type:
Article
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
Published in:
Movement Disorders, 2011, v. 26, n. 5, p. 905, doi. 10.1002/mds.23593
By:
- Ling, Helen;
- Polke, James M.;
- Sweeney, Mary G.;
- Haworth, Andrea;
- Sandford, Catherine A.;
- Heales, Simon J.R.;
- Wood, Nicholas W.;
- Davis, Mary B.;
- Lees, Andrew J.
Publication type:
Article
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description.
Published in:
Movement Disorders, 2010, v. 25, n. 13, p. 2176, doi. 10.1002/mds.23223
By:
- Novak, Marianne J.U.;
- Sweeney, Mary G.;
- Li, Abi;
- Treacy, Colm;
- Chandrashekar, Hoskote S.;
- Giunti, Paola;
- Goold, Robert G.;
- Davis, Mary B.;
- Houlden, Henry;
- Tabrizi, Sarah J.
Publication type:
Article
Huntington's disease phenocopies are clinically and genetically heterogeneous.
Published in:
Movement Disorders, 2008, v. 23, n. 5, p. 716, doi. 10.1002/mds.21915
By:
- Wild, Edward J.;
- Mudanohwo, Ese E.;
- Sweeney, Mary G.;
- Schneider, Susanne A.;
- Beck, Jon;
- Bhatia, Kailash P.;
- Rossor, Martin N.;
- Davis, Mary B.;
- Tabrizi, Sarah J.
Publication type:
Article
Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.
Published in:
Movement Disorders, 2005, v. 20, n. 11, p. 1521, doi. 10.1002/mds.20529
By:
- Loy, Clement T.;
- Sweeney, Mary G.;
- Davis, Mary B.;
- Wills, Adrian J.;
- Sawle, Guy V.;
- Lees, Andrew J.;
- Tabrizi, Sarah J.
Publication type:
Article
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene.
Published in:
Movement Disorders, 2002, v. 17, n. 4, p. 717, doi. 10.1002/mds.10126
By:
- Spacey, Sian D.;
- Valente, Enza-Maria;
- Wali, Gurusidheshwar M.;
- Warner, Thomas T.;
- Jarman, Paul R.;
- Schapira, Anthony H.V.;
- Dixon, Peter H.;
- Davis, Mary B.;
- Bhatia, Kailash P.;
- Wood, Nicholas W.
Publication type:
Article
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
Published in:
Movement Disorders, 1998, v. 13, n. 2, p. 339, doi. 10.1002/mds.870130223
By:
- Hanna, Michael G.;
- Davis, Mary B.;
- Sweeney, Mary G.;
- Noursadeghi, Madi;
- Ellis, Christopher J.;
- Elliot, Perry;
- Wood, Nicholas W.;
- David Marsden, C.
Publication type:
Article

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