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P3-157: A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
Published in:
2006
By:
- Momeni, Parastoo;
- Malkani, Roneil;
- D’Souza, Ian;
- Gwinn-Hardy, Katrina;
- Schellenberg, Gerard D.;
- Hardy, John
Publication type:
Abstract
P3-157: A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
Published in:
2006
By:
- Momeni, Parastoo;
- Malkani, Roneil;
- D’Souza, Ian;
- Gwinn-Hardy, Katrina;
- Schellenberg, Gerard D.;
- Hardy, John
Publication type:
Abstract
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein.
Published in:
Nature Genetics, 2000, v. 25, n. 4, p. 402, doi. 10.1038/78078
By:
- Lewis, Jada;
- McGowan, Eileen;
- Rockwood, Julia;
- Melrose, Heather;
- Nacharaju, Parimala;
- Van Slegtenhorst, Marjon;
- Gwinn-Hardy, Katrina;
- Murphy, M. P;
- Baker, Matt;
- Yu, Xin;
- Duff, Karen;
- Hardy, John;
- Corral, Anthony;
- Lin, Wen-Lang;
- Yen, Shu-Hui;
- Dickson, Dennis W.;
- Davies, Peter;
- Hutton, Mike
Publication type:
Article
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation.
Published in:
Neurodegenerative Diseases, 2007, v. 4, n. 5, p. 386, doi. 10.1159/000105160
By:
- Johnson, Janel;
- Paisán-Ruíz, Coro;
- Lopez, Grisel;
- Crews, Cynthia;
- Britton, Angela;
- Malkani, Roniel;
- Evans, E.Whitney;
- McInerney-Leo, Aideen;
- Jain, Shushant;
- Nussbaum, Robert L.;
- Foote, Kelly D.;
- Mandel, Ronald J.;
- Crawley, Anthony;
- Reimsnider, Sharon;
- Fernandez, Hubert H.;
- Okun, Michael S.;
- Gwinn-Hardy, Katrina;
- Singleton, Andrew B.
Publication type:
Article
Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features.
Published in:
Journal of Neurology, 2004, v. 251, n. 11, p. 1398, doi. 10.1007/s00415-004-0552-7
By:
- Hanson, Melissa;
- Honour, Melissa;
- Singleton, Amanda;
- Crawley, Anthony;
- Singleton, Andrew;
- Hardy, John;
- Gwinn-Hardy, Katrina
Publication type:
Article
Hereditary dysautonomias: current knowledge and collaborations for the future.
Published in:
Clinical Autonomic Research, 2003, v. 13, n. 3, p. 180, doi. 10.1007/s10286-003-0098-2
By:
- Math P. Cuajungco;
- Yukio Ando;
- Felicia B. Axelrod;
- Italo Biaggioni;
- David S. Goldstein;
- Alan E. Guttmacher;
- Katrina Gwinn-Hardy;
- Maureen K. Hahn;
- Max J. Hilz;
- Giris Jacob;
- Jordan Jens;
- William R. Kennedy;
- Stephen B. Liggett;
- Daniel T. O'Connor;
- Sonia R. Peltzer;
- David Robertson;
- Berish Y. Rubin;
- Quandra Scudder;
- Linda J. Smith;
- Gail E. Sonenshein
Publication type:
Article
Familial Lewy body diseases.
Published in:
2002
By:
- Gwinn-Hardy, Katrina;
- Singleton, Amanda Adam
Publication type:
journal article
Association between cardiac denervation and parkinsonism caused by α‐synuclein gene triplication.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 4, p. 768, doi. 10.1093/brain/awh081
By:
- Amanda Singleton;
- Katrina Gwinn‐Hardy;
- Yehonotan Sharabi;
- Sheng‐Ting Li;
- Courtney Holmes;
- Raghuveer Dendi;
- John Hardy;
- Andrew Singleton;
- Anthony Crawley;
- David S. Goldstein
Publication type:
Article
Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.
Published in:
Acta Neuropathologica, 2000, v. 99, n. 6, p. 663, doi. 10.1007/s004010051177
By:
- Gwinn-Hardy, Katrina;
- Mehta, Nitin D.;
- Farrer, Matt;
- Maraganore, Demetrius;
- Muenter, Manfred;
- Shu-Hui Yen;
- Hardy, John;
- Dickson, Dennis W.
Publication type:
Article
Genetics of Parkinson's disease and parkinsonism.
Published in:
Annals of Neurology, 2006, v. 60, n. 4, p. 389
By:
- John Hardy;
- Huaiban Cai;
- Mark R. Cookson;
- Katrina Gwinn‐Hardy;
- Andrew Singleton
Publication type:
Article
Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications.
Published in:
Annals of Neurology, 2004, v. 55, n. 2, p. 174
By:
- Matt Farrer;
- Jennifer Kachergus;
- Lysia Forno;
- Sarah Lincoln;
- Deng-Shun Wang;
- Mary Hulihan;
- Demetrius Maraganore;
- Katrina Gwinn-Hardy;
- Zbigniew Wszolek;
- Dennis Dickson;
- J. William Langston
Publication type:
Article
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Published in:
Annals of Neurology, 2003, v. 54, n. 2, p. 271
By:
- Stephen Hague;
- Ekaterina Rogaeva;
- Dena Hernandez;
- Cindy Gulick;
- Amanda Singleton;
- Melissa Hanson;
- Janel Johnson;
- Roberto Weiser;
- Marisol Gallardo;
- Bernard Ravina;
- Katrina Gwinn-Hardy;
- Anthony Crawley;
- Peter H. St. George-Hyslop;
- Anthony E. Lang;
- Peter Heutink;
- Vincenzo Bonifati;
- John Hardy;
- Andrew Singleton
Publication type:
Article
Parkinson's genetics: an embarrassment of riches.
Published in:
2002
By:
- Gwinn-Hardy, Katrina;
- Farrer, Matt
Publication type:
commentary
Lewy bodies and parkinsonism in families with parkin mutations.
Published in:
2001
By:
- Farrer, Matt;
- Chan, Piu;
- Chen, Rong;
- Tan, Louis;
- Lincoln, Sarah;
- Hernandez, Dena;
- Forno, Lysia;
- Gwinn-Hardy, Katrina;
- Petrucelli, Leonard;
- Hussey, Jennifer;
- Singleton, Andrew;
- Tanner, Caroline;
- Hardy, John;
- Langston, J. William;
- Farrer, M;
- Chan, P;
- Chen, R;
- Tan, L;
- Lincoln, S;
- Hernandez, D
Publication type:
journal article
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans.
Published in:
PLoS Genetics, 2007, v. 3, n. 6, p. e108, doi. 10.1371/journal.pgen.0030108
By:
- Van de Leemput, Joyce;
- Chandran, Jayanth;
- Knight, Melanie A.;
- Holtzclaw, Lynne A.;
- Scholz, Sonja;
- Cookson, Mark R.;
- Houlden, Henry;
- Gwinn-Hardy, Katrina;
- Hon-Chung Fung;
- Xian Lin;
- Hernandez, Dena;
- Simon-Sanchez, Javier;
- Wood, Nick W.;
- Giunti, Paola;
- Rafferty, Ian;
- Hardy, John;
- Storey, Elsdon;
- Gardner, R. J. McKinlay;
- Forrest, Susan M.;
- Fisher, Elizabeth M. C.
Publication type:
Article
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 1, p. 1, doi. 10.1093/hmg/ddl436
By:
- Simon-Sanchez, Javier;
- Scholz, Sonja;
- Fung, Hon-Chung;
- Matarin, Mar;
- Hernandez, Dena;
- Gibbs, J. Raphael;
- Britton, Angela;
- de Vrieze, Fabienne Wavrant;
- Peckham, Elizabeth;
- Gwinn-Hardy, Katrina;
- Crawley, Anthony;
- Keen, Judith C.;
- Nash, Josefina;
- Borgaonkar, Digamber;
- Hardy, John;
- Singleton, Andrew
Publication type:
Article
The genetics of disorders with synuclein pathology and parkinsonism.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 10, p. 1901, doi. 10.1093/hmg/8.10.1901
By:
- Farrer, Matt;
- Gwinn-Hardy, Katrina;
- Hutton, Mike;
- Hardy, John
Publication type:
Article
Diagnostic criteria for psychosis in Parkinson's disease: Report of an NINDS, NIMH work group.
Published in:
Movement Disorders, 2007, v. 22, n. 8, p. 1061, doi. 10.1002/mds.21382
By:
- Ravina, Bernard;
- Marder, Karen;
- Fernandez, Hubert H.;
- Friedman, Joseph H.;
- McDonald, William;
- Murphy, Diane;
- Aarsland, Dag;
- Babcock, Debra;
- Cummings, Jefferey;
- Endicott, Jean;
- Factor, Stewart;
- Galpern, Wendy;
- Lees, Andrew;
- Marsh, Laura;
- Stacy, Mark;
- Gwinn-Hardy, Katrina;
- Voon, Valerie;
- Goetz, Christopher
Publication type:
Article
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
Published in:
2007
By:
- Toft, Mathias;
- Mata, Ignacio F.;
- Ross, Owen A.;
- Kachergus, Jennifer;
- Hulihan, Mary M.;
- Haugarvoll, Kristoffer;
- Stone, Jeremy T.;
- Blazquez, Marta;
- Gibson, J. Mark;
- Aasly, Jan O.;
- White, Linda R.;
- Lynch, Timothy;
- Adler, Charles H.;
- Gwinn-Hardy, Katrina;
- Farrer, Matthew J.
Publication type:
journal article
Genetic testing in Parkinson's disease.
Published in:
2005
By:
- McInerney-Leo, Aideen;
- Hadley, Donald W.;
- Gwinn-Hardy, Katrina;
- Hardy, John
Publication type:
journal article
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
Published in:
Movement Disorders, 2004, v. 19, n. 6, p. 622, doi. 10.1002/mds.20074
By:
- Furtado, Sarah;
- Payami, Haydeh;
- Lockhart, Paul J.;
- Hanson, Melissa;
- Nutt, John G.;
- Singleton, Andrew A.;
- Singleton, Amanda;
- Bower, Jamel;
- Utti, Ryan J.;
- Bird, Thomas D.;
- de la Fuente-Fernandez, Raul;
- Tsuboi, Yoshio;
- Klimek, Mary L.;
- Suchowersky, Oksana;
- Hardy, John;
- Calne, Donald B.;
- Wszolek, Zbigniew K.;
- Farrer, Matthew;
- Gwinn-Hardy, Katrina;
- Stoessl, A. Jon
Publication type:
Article
Limb cooling and focal dystonia.
Published in:
Movement Disorders, 2004, v. 19, n. 2, p. 238, doi. 10.1002/mds.10673
By:
- Evidente, Virgilio Gerald H.;
- Cooper, Cynthia;
- Gwinn-Hardy, Katrina
Publication type:
Article
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.
Published in:
Movement Disorders, 2004, v. 19, n. 2, p. 228, doi. 10.1002/mds.10626
By:
- Bruno, Michiko K.;
- Ravina, Bernard;
- Garraux, Gaetan;
- Hallett, Mark;
- Ptacek, Louis;
- Singleton, Amanda;
- Johnson, Janel;
- Singleton, Andrew;
- Hanson, Melissa;
- Considine, Elaine;
- Gwinn-Hardy, Katrina
Publication type:
Article
SCA2 may present as levodopa-responsive parkinsonism.
Published in:
Movement Disorders, 2003, v. 18, n. 4, p. 425, doi. 10.1002/mds.10375
By:
- Payami, Haydeh;
- Nutt, John;
- Gancher, Steven;
- Bird, Thomas;
- McNeal, Melissa Gonzales;
- Seltzer, William K.;
- Hussey, Jennifer;
- Lockhart, Paul;
- Gwinn-Hardy, Katrina;
- Singleton, Amanda A.;
- Singleton, Andrew B.;
- Hardy, John;
- Farrer, Matthew
Publication type:
Article
Phenomenology of 'Lubag' or X-linked dystonia-parkinsonism.
Published in:
Movement Disorders, 2002, v. 17, n. 6, p. 1271, doi. 10.1002/mds.10271
By:
- Evidente, Virgilio Gerald H.;
- Advincula, Joel;
- Esteban, Raymund;
- Pasco, Paul;
- Alfon, Jhoe Anthony;
- Natividad, Filipinas F.;
- Cuanang, Joven;
- Luis, Amado San;
- Gwinn-Hardy, Katrina;
- Hardy, John;
- Hernandez, Dena;
- Singleton, Andrew
Publication type:
Article
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Published in:
Movement Disorders, 2002, v. 17, n. 5, p. 1068, doi. 10.1002/mds.10241
By:
- Subramony, S.H.;
- Hernandez, Dena;
- Adam, Amanda;
- Smith-Jefferson, Stephanie;
- Hussey, Jennifer;
- Gwinn-Hardy, Katrina;
- Lynch, Timothy;
- McDaniel, Olga;
- Hardy, John;
- Farrer, Matt;
- Singleton, Andrew
Publication type:
Article
Clinical, <sup>18</sup>F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
Published in:
Movement Disorders, 2002, v. 17, n. 4, p. 670, doi. 10.1002/mds.10184
By:
- Wu, Ruey-Meei;
- Shan, Din-E;
- Sun, Chen-Ming;
- Liu, Ren-Shyan;
- Hwu, Wuh-Liang;
- Tai, Chun-Hwei;
- Hussey, Jennifer;
- West, Andrew;
- Gwinn-Hardy, Katrina;
- Hardy, John;
- Chen, Judy;
- Farrer, Matt;
- Lincoln, Sarah
Publication type:
Article
Genetics of parkinsonism.
Published in:
Movement Disorders, 2002, v. 17, n. 4, p. 645, doi. 10.1002/mds.10173
By:
- Gwinn-Hardy, Katrina
Publication type:
Article
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: A more benign phenotype?
Published in:
2002
By:
- Evidente, Virgilio Gerald H.;
- Gwinn-Hardy, Katrina;
- Hardy, John;
- Hernandez, Dena;
- Singleton, Andrew
Publication type:
journal article
Persistent chorea triggered by hyperglycemic crisis in diabetics.
Published in:
2001
By:
- Ahlskog, J. Eric;
- Nishino, Hiroshi;
- Evidente, V.G.H.;
- Tulloch, John W.;
- Forbes, Glenn S.;
- Caviness, John N.;
- Gwinn-Hardy, Katrina A.;
- Ahlskog, J E;
- Nishino, H;
- Evidente, V G;
- Tulloch, J W;
- Forbes, G S;
- Caviness, J N;
- Gwinn-Hardy, K A
Publication type:
journal article
Serum leptin concentrations and satiety in Parkinson's disease patients with and without weight loss.
Published in:
2001
By:
- Evidente, Virgilio G.H.;
- Caviness, John N.;
- Adler, Charles H.;
- Gwinn-Hardy, Katrina A.;
- Pratley, Richard E.;
- Evidente, V G;
- Caviness, J N;
- Adler, C H;
- Gwinn-Hardy, K A;
- Pratley, R E
Publication type:
journal article
Amantadine is beneficial in restless legs syndrome.
Published in:
Movement Disorders, 2000, v. 15, n. 2, p. 324, doi. 10.1002/1531-8257(200003)15:2<324::AID-MDS1020>3.0.CO;2-4
By:
- Evidente, Virgilio Gerald H.;
- Adler, Charles H.;
- Caviness, John N.;
- Hentz, Joseph G.;
- Gwinn-Hardy, Katrina
Publication type:
Article
Electrophysiological observations in hereditary parkinsonism-dementia with Lewy body pathology.
Published in:
2000
By:
- Caviness, John N.;
- Gwinn-Hardy, Katrina;
- Adler, Charles H.;
- Muenter, Manfred D.;
- Caviness, J N;
- Gwinn-Hardy, K;
- Adler, C H;
- Muenter, M D
Publication type:
journal article
Risperidone is effective in severe hemichorea/hemiballismus.
Published in:
Movement Disorders, 1999, v. 14, n. 2, p. 377, doi. 10.1002/1531-8257(199903)14:2<377::AID-MDS1034>3.0.CO;2-N
By:
- Evidente, Virgilio Gerald H.;
- Gwinn-Hardy, Katrina;
- Caviness, John N.;
- Adler, Charles H.
Publication type:
Article
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 1, p. 81, doi. 10.1093/hmg/8.1.81
By:
- Farrer, Matt;
- Gwinn-Hardy, Katrina;
- Muenter, Manfred;
- Wavrant DeVrieze, Fabienne;
- Crook, Richard;
- Perez-Tur, Jordi;
- Lincoln, Sarah;
- Maraganore, Demetrius;
- Adler, Charles;
- Newman, Stephanie;
- MacElwee, Kari;
- McCarthy, Page;
- Miller, Carol;
- Waters, Cheryl;
- Hardy, John
Publication type:
Article

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