Works matching AU Aasly, Jan

Results: 101

What Have We Learned from Cerebrospinal Fluid Studies about Biomarkers for Detecting LRRK2 Parkinson's Disease Patients and Healthy Subjects with Parkinson's-Associated LRRK2 Mutations?

Published in:

Journal of Parkinson's Disease, 2019, v. 9, n. 3, p. 467, doi. 10.3233/JPD-191630

By:

Loeffler, David A.;
Aasly, Jan O.;
LeWitt, Peter A.;
Coffey, Mary P.

Publication type:

Article

Found in transcription: Accurate Parkinson's disease classification in peripheral blood.

Published in:

Journal of Parkinson's Disease, 2013, v. 3, n. 1, p. 19, doi. 10.3233/jpd-120159

By:

Karlsson, Magdalena Kauczynska;
Sharma, Praveen;
Aasly, Jan;
Toft, Mathias;
Skogar, Örjan;
Sæbø, Solve;
Lönneborg, Anders

Publication type:

Article

Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease.

Published in:

Neurogenetics, 2007, v. 8, n. 2, p. 95, doi. 10.1007/s10048-006-0075-8

By:

Taylor, Julie;
Hulihan, Mary;
Kachergus, Jennifer;
Melrose, Heather;
Lincoln, Sarah;
Hinkle, Kelly;
Stone, Jeremy;
Ross, Owen;
Hauser, Robert;
Aasly, Jan;
Gasser, Thomas;
Payami, Haydeh;
Wszolek, Zbigniew;
Farrer, Matthew

Publication type:

Article

Lrrk2 pathogenic substitutions in Parkinson's disease.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 171, doi. 10.1007/s10048-005-0005-1

By:

Mata, Ignacio;
Kachergus, Jennifer;
Taylor, Julie;
Lincoln, Sarah;
Aasly, Jan;
Lynch, Timothy;
Hulihan, Mary;
Cobb, Stephanie;
Wu, Ruey-Meei;
Lu, Chin-Song;
Lahoz, Carlos;
Wszolek, Zbigniew;
Farrer, Matthew

Publication type:

Article

Combining clinical and biofluid markers for early Parkinson's disease detection.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 1, p. 109, doi. 10.1002/acn3.509

By:

Yu, Zhenwei;
Stewart, Tessandra;
Aasly, Jan;
Shi, Min;
Zhang, Jing

Publication type:

Article

Higher Frequency of Certain Cancers in LRRK2 G2019S Mutation Carriers With Parkinson Disease A Pooled Analysis.

Published in:

JAMA Neurology, 2015, v. 72, n. 1, p. 58, doi. 10.1001/jamaneurol.2014.1973

By:

Agalliu, Ilir;
San Luciano, Marta;
Mirelman, Anat;
Giladi, Nir;
Waro, Bjorg;
Aasly, Jan;
Inzelberg, Rivka;
Hassin-Baer, Sharon;
Friedman, Eitan;
Ruiz-Martinez, Javier;
Marti-Masso, Jose Felix;
Orr-Urtreger, Avi;
Bressman, Susan;
Saunders-Pullman, Rachel

Publication type:

Article

Fine-mapping and candidate gene investigation within the PARK10 locus.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 336, doi. 10.1038/ejhg.2008.187

By:

Haugarvoll, Kristoffer;
Toft, Mathias;
Skipper, Lisa;
Heckman, Michael G.;
Crook, Julia E.;
Soto, Alexandra;
Ross, Owen A.;
Hulihan, Mary M.;
Kachergus, Jennifer M.;
Sando, Sigrid B.;
White, Linda R.;
Lynch, Timothy;
Gibson, J. Mark;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Aasly, Jan O.;
Farrer, Matthew J.

Publication type:

Article

Alterations in the reduced pteridine contents in the cerebrospinal fluids of LRRK2 mutation carriers and patients with Parkinson's disease.

Published in:

Journal of Neural Transmission, 2018, v. 125, n. 1, p. 45, doi. 10.1007/s00702-017-1784-x

By:

Ichinose, Hiroshi;
Inoue, Ken-ichi;
Arakawa, Shinobu;
Watanabe, Yuki;
Kurosaki, Hiroki;
Koshiba, Shoko;
Hustad, Eldbjorg;
Takada, Masahiko;
Aasly, Jan O.

Publication type:

Article

CSF Nrf2 and HSPA8 in Parkinson's disease patients with and without LRRK2 gene mutations.

Published in:

Journal of Neural Transmission, 2016, v. 123, n. 3, p. 179, doi. 10.1007/s00702-015-1479-0

By:

Loeffler, David;
Smith, Lynnae;
Coffey, Mary;
Aasly, Jan;
LeWitt, Peter

Publication type:

Article

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Published in:

Nature Genetics, 2012, v. 44, n. 2, p. 200, doi. 10.1038/ng.1027

By:

Rademakers, Rosa;
Baker, Matt;
Nicholson, Alexandra M;
Rutherford, Nicola J;
Finch, NiCole;
Soto-Ortolaza, Alexandra;
Lash, Jennifer;
Wider, Christian;
Wojtas, Aleksandra;
DeJesus-Hernandez, Mariely;
Adamson, Jennifer;
Kouri, Naomi;
Sundal, Christina;
Shuster, Elizabeth A;
Aasly, Jan;
MacKenzie, James;
Roeber, Sigrun;
Kretzschmar, Hans A;
Boeve, Bradley F;
Knopman, David S

Publication type:

Article

Arm swing as a potential new prodromal marker of Parkinson's disease.

Published in:

2016

By:

Mirelman, Anat;
Bernad‐Elazari, Hagar;
Thaler, Avner;
Giladi‐Yacobi, Eytan;
Gurevich, Tanya;
Gana‐Weisz, Mali;
Saunders‐Pullman, Rachel;
Raymond, Deborah;
Doan, Nancy;
Bressman, Susan B.;
Marder, Karen S.;
Alcalay, Roy N.;
Rao, Ashwini K.;
Berg, Daniela;
Brockmann, Kathrin;
Aasly, Jan;
Waro, Bjørg Johanne;
Tolosa, Eduardo;
Vilas, Dolores;
Pont‐Sunyer, Claustre

Publication type:

journal article

Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.

Published in:

2016

By:

Vilas, Dolores;
Shaw, Leslie M.;
Taylor, Peggy;
Berg, Daniela;
Brockmann, Kathrin;
Aasly, Jan;
Marras, Connie;
Pont‐Sunyer, Claustre;
Ríos, José;
Marek, Ken;
Tolosa, Eduardo

Publication type:

journal article

Familial aggregation of Parkinson's disease in the Faroe Islands.

Published in:

Movement Disorders, 2015, v. 30, n. 4, p. 538, doi. 10.1002/mds.26132

By:

Petersen, Maria Skaalum;
Bech, Sara;
Nosova, Ekaterina;
Aasly, Jan;
Farrer, Matthew J.

Publication type:

Article

Genetic variability of the retromer cargo recognition complex in parkinsonism.

Published in:

Movement Disorders, 2015, v. 30, n. 4, p. 580, doi. 10.1002/mds.26104

By:

Gustavsson, Emil K.;
Guella, Ilaria;
Trinh, Joanne;
Szu‐Tu, Chelsea;
Rajput, Alex;
Rajput, Ali H.;
Steele, John C.;
McKeown, Martin;
Jeon, Beom S.;
Aasly, Jan O.;
Farrer, Matthew J.

Publication type:

Article

DNAJC13 genetic variants in parkinsonism.

Published in:

Movement Disorders, 2015, v. 30, n. 2, p. 273, doi. 10.1002/mds.26064

By:

Gustavsson, Emil K.;
Trinh, Joanne;
Guella, Ilaria;
Vilariño‐Güell, Carles;
Appel‐Cresswell, Silke;
Stoessl, A. Jon;
Tsui, Joseph K;
McKeown, Martin;
Rajput, Alex;
Rajput, Ali H.;
Aasly, Jan O.;
Farrer, Matthew J.

Publication type:

Article

Alpha-synuclein repeat variants and survival in Parkinson's disease.

Published in:

Movement Disorders, 2014, v. 29, n. 8, p. 1053, doi. 10.1002/mds.25841

By:

Chung, Sun Ju;
Biernacka, Joanna M.;
Armasu, Sebastian M.;
Anderson, Kari;
Frigerio, Roberta;
Aasly, Jan O.;
Annesi, Grazia;
Bentivoglio, Anna Rita;
Brighina, Laura;
Chartier‐Harlin, Marie‐Christine;
Goldwurm, Stefano;
Hadjigeorgiou, Georgios;
Jasinska‐Myga, Barbara;
Jeon, Beom Seok;
Kim, Yun Joong;
Krüger, Rejko;
Lesage, Suzanne;
Markopoulou, Katerina;
Mellick, George;
Morrison, Karen E.

Publication type:

Article

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium.

Published in:

Movement Disorders, 2013, v. 28, n. 12, p. 1740, doi. 10.1002/mds.25600

By:

Heckman, Michael G.;
Soto‐Ortolaza, Alexandra I.;
Aasly, Jan O.;
Abahuni, Nadine;
Annesi, Grazia;
Bacon, Justin A.;
Bardien, Soraya;
Bozi, Maria;
Brice, Alexis;
Brighina, Laura;
Carr, Jonathan;
Chartier‐Harlin, Marie‐Christine;
Dardiotis, Efthimios;
Dickson, Dennis W.;
Diehl, Nancy N.;
Elbaz, Alexis;
Ferrarese, Carlo;
Fiske, Brian;
Gibson, J. Mark;
Gibson, Rachel

Publication type:

Article

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Published in:

Movement Disorders, 2013, v. 28, n. 6, p. 811, doi. 10.1002/mds.25421

By:

Appel‐Cresswell, Silke;
Vilarino‐Guell, Carles;
Encarnacion, Mary;
Sherman, Holly;
Yu, Irene;
Shah, Brinda;
Weir, David;
Thompson, Christina;
Szu‐Tu, Chelsea;
Trinh, Joanne;
Aasly, Jan O.;
Rajput, Alex;
Rajput, Ali H.;
Stoessl, A.;
Farrer, Matthew J.

Publication type:

Article

Dopamine turnover increases in asymptomatic LRRK2 mutations carriers.

Published in:

Movement Disorders, 2010, v. 25, n. 16, p. 2717, doi. 10.1002/mds.23356

By:

Sossi, Vesna;
de la Fuente-Fernández, Raul;
Nandhagopal, Ramachandiran;
Schulzer, Michael;
McKenzie, Jessamyn;
Ruth, Thomas J.;
Aasly, Jan O.;
Farrer, Matthew J.;
Wszolek, Zbigniew K.;
Stoessl, Jon A.

Publication type:

Article

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

Published in:

Movement Disorders, 2010, v. 25, n. 13, p. 2156, doi. 10.1002/mds.23265

By:

Aasly, Jan O.;
Vilariño-Güell, Carles;
Dachsel, Justus C.;
Webber, Philip J.;
West, Andrew B.;
Haugarvoll, Kristoffer;
Johansen, Krisztina K.;
Toft, Mathias;
Nutt, John G.;
Payami, Haydeh;
Kachergus, Jennifer M.;
Lincoln, Sarah J.;
Felic, Amela;
Wider, Christian;
Soto-Ortolaza, Alexandra I.;
Cobb, Stephanie A.;
White, Linda R.;
Ross, Owen A.;
Farrer, Matthew J.

Publication type:

Article

GCH1 in early-onset Parkinson's disease.

Published in:

Movement Disorders, 2009, v. 24, n. 14, p. 2070, doi. 10.1002/mds.22729

By:

Cobb, Stephanie A.;
Wider, Christian;
Ross, Owen A.;
Mata, Ignacio F.;
Adler, Charles H.;
Rajput, Alex;
Rajput, Ali H.;
Wu, Ruey-Meei;
Hauser, Robert;
Josephs, Keith A.;
Carr, Jonathan;
Gwinn, Katrina;
Heckman, Michael G.;
Aasly, Jan O.;
Lynch, Timothy;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Kapatos, Gregory;
Farrer, Matthew J.

Publication type:

Article

Reported mutations in GIGYF2 are not a common cause of Parkinson's disease.

Published in:

Movement Disorders, 2009, v. 24, n. 4, p. 619, doi. 10.1002/mds.22451

By:

Vilariño-Güell, Carles;
Ross, Owen A.;
Soto, Alexandra I.;
Farrer, Matthew J.;
Haugarvoll, Kristoffer;
Aasly, Jan O.;
Uitti, Ryan J.;
Wszolek, Zbigniew K.

Publication type:

Article

FGF20 and Parkinson's disease: No evidence of association or pathogenicity via α-synuclein expression.

Published in:

Movement Disorders, 2009, v. 24, n. 3, p. 455, doi. 10.1002/mds.22442

By:

Wider, Christian;
Dachsel, Justus C.;
Soto, Alexandra I.;
Heckman, Michael G.;
Diehl, Nancy N.;
Yue, Mei;
Lincoln, Sarah;
Aasly, Jan O.;
Haugarvoll, Kristoffer;
Trojanowski, John Q.;
Papapetropoulos, Spiridon;
Mash, Deborah;
Rajput, Alex;
Rajput, Ali H.;
Gibson, J. Mark;
Lynch, Timothy;
Dickson, Dennis W.;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Farrer, Matthew J.

Publication type:

Article

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.

Published in:

Movement Disorders, 2008, v. 23, n. 11, p. 1624, doi. 10.1002/mds.22178

By:

Johansen, Krisztina K.;
Bindoff, Laurence A.;
Rydland, Jana;
Aasly, Jan O.

Publication type:

Article

ELAVL4, PARK10, and the Celts.

Published in:

2007

By:

Haugarvoll, Kristoffer;
Toft, Mathias;
Ross, Owen A.;
Stone, Jeremy T.;
Heckman, Michael G.;
White, Linda R.;
Lynch, Timothy;
Gibson, John Mark;
Wszolek, Zbigniew K.;
Uitti, Ryan J.;
Aasly, Jan O.;
Farrer, Matthew J.

Publication type:

journal 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

Parkinsonism, FXTAS, and FMR1 premutations.

Published in:

Movement Disorders, 2005, v. 20, n. 2, p. 230, doi. 10.1002/mds.20297

By:

Toft, Mathias;
Aasly, Jan;
Bisceglio, Gina;
Adler, Charles H.;
Uitti, Ryan J.;
Krygowska-Wajs, Anna;
Lynch, Timothy;
Wszolek, Zbigniew K.;
Farrer, Matthew J.

Publication type:

Article

Genotype–phenotype correlation in PRKN-associated Parkinson's disease.

Published in:

NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00677-3

By:

Menon, Poornima Jayadev;
Sambin, Sara;
Criniere-Boizet, Baptiste;
Courtin, Thomas;
Tesson, Christelle;
Casse, Fanny;
Ferrien, Melanie;
Mariani, Louise-Laure;
Carvalho, Stephanie;
Lejeune, Francois-Xavier;
Rebbah, Sana;
Martet, Gaspard;
Houot, Marion;
Lanore, Aymeric;
Mangone, Graziella;
Roze, Emmanuel;
Vidailhet, Marie;
Aasly, Jan;
Gan Or, Ziv;
Yu, Eric

Publication type:

Article

Clinical and Imaging Markers of Prodromal Parkinson's Disease.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00395

By:

Hustad, Eldbjørg;
Aasly, Jan O.

Publication type:

Article

Multifactorial assessment of Parkinson's disease course and outcomes using trajectory modeling in a multiethnic, multisite cohort - extension of the LONG-PD study.

Published in:

Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fnagi.2023.1240971

By:

Chase, Bruce A.;
Krueger, Rejko;
Pavelka, Lukas;
Sun Ju Chung;
Aasly, Jan;
Dardiotis, Efthimios;
Premkumar, Ashvini P.;
Schoneburg, Bernadette;
Kartha, Ninith;
Aunaetitrakul, Navamon;
Frigerio, Roberta;
Maraganore, Demetrius;
Markopoulou, Katerina

Publication type:

Article

LRRTM3 Interacts with APP and BACE1 and Has Variants Associating with Late-Onset Alzheimer’s Disease (LOAD).

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064164

By:

Lincoln, Sarah;
Allen, Mariet;
Cox, Claire L.;
Walker, Louise P.;
Malphrus, Kimberly;
Qiu, Yushi;
Nguyen, Thuy;
Rowley, Christopher;
Kouri, Naomi;
Crook, Julia;
Pankratz, V. Shane;
Younkin, Samuel;
Younkin, Linda;
Carrasquillo, Minerva;
Zou, Fanggeng;
Abdul-Hay, Samer O.;
Springer, Wolfdieter;
Sando, Sigrid B.;
Aasly, Jan O.;
Barcikowska, Maria

Publication type:

Article

Metabolomic Profiling in LRRK2-Related Parkinson's Disease.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007551

By:

Johansen, Krisztina K.;
Lei Wang;
Aasly, Jan O.;
White, Linda R.;
Matson, Wayne R.;
Henchcliffe, Claire;
Beal, M. Flint;
Bogdanov, Mikhail

Publication type:

Article

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

Published in:

Muscle & Nerve, 2007, v. 36, n. 5, p. 679, doi. 10.1002/mus.20859

By:

Svaasand, Eva K.;
Aasly, Jan;
Landsem, Veslemøy Malm;
Klungland, Helge

Publication type:

Article

H. SCHRADER OG MEDARBEIDERE SVARER.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 14/15, p. 976

By:

SCHRADER, HARALD;
AASLY, JAN;
BØHMER, THOMAS

Publication type:

Article

Utfordringer ved Münchhausens syndrom.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 10, p. 696, doi. 10.4045/tidsskr.17.0268

By:

Schrader, Harald;
Aasly, Jan O.;
Bøhmer, Thomas

Publication type:

Article

Bruk av avansert behandling ved Parkinsons sykdom i Norge.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2017, v. 137, n. 9, p. 619, doi. 10.4045/tidsskr.16.0711

By:

Ezat, Beriwan;
Pihlstrøm, Lasse;
Aasly, Jan;
Tysnes, Ole-Bjørn;
Egge, Arild;
Dietrichs, Espen

Publication type:

Article

Risk-reducing effect of education in Alzheimer's disease.

Published in:

International Journal of Geriatric Psychiatry, 2008, v. 23, n. 11, p. 1156, doi. 10.1002/gps.2043

By:

Sando, Sigrid Botne;
Melquist, Stacey;
Cannon, Ashley;
Hutton, Michael;
Sletvold, Olav;
Saltvedt, Ingvild;
White, Linda R.;
Lydersen, Stian;
Aasly, Jan

Publication type:

Article

Use of the Brief Smell Identification Test for olfactory deficit in a Norwegian population with Alzheimer's disease.

Published in:

International Journal of Geriatric Psychiatry, 2007, v. 22, n. 10, p. 1020, doi. 10.1002/gps.1783

By:

Kjelvik, Grete;
Sando, Sigrid Botne;
Aasly, Jan;
Engedal, Knut A.;
White, Linda R.

Publication type:

Article

Elevated levels of cerebrospinal fluid α-synuclein oligomers in healthy asymptomatic LRRK2 mutation carriers.

Published in:

Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00248

By:

Aasly, Jan O.;
Johansen, Krisztina K.;
Brønstad, Gunnar;
Warø, Bjørg J.;
Majbour, Nour K.;
Varghese, Shiji;
Alzahmi, Fatimah;
Paleologou, Katerina E.;
Amer, Dena A. M.;
Al-Hayani, Abdulmonem;
El-Agnaf, Omar M. A.

Publication type:

Article

Mitochondrial Diseases and Myopathies: A Series of Muscle Biopsy Specimens with Ultrastructural Changes in the Mitochondria.

Published in:

Ultrastructural Pathology, 1992, v. 16, n. 3, p. 263, doi. 10.3109/01913129209061355

By:

Linda, Sigurd;
Lund, Irene;
Torbergsen, Torberg;
Aasly, Jan;
Mellgren, Svein Ivar;
Borud, Olav;
Monstad, Per

Publication type:

Article

Cerebrospinal fluid from patients with dementia contains increased amounts of an unknown factor.

Published in:

Journal of Neuroscience Research, 2004, v. 78, n. 2, p. 297, doi. 10.1002/jnr.20241

By:

Linda R. White;
Mari Gårseth;
Jan Aasly;
Ursula Sonnewald

Publication type:

Article

[U-<sup>13</sup>C]glutamate metabolism in astrocytes during hypoglycemia and hypoxia.

Published in:

Journal of Neuroscience Research, 1998, v. 51, n. 5, p. 636, doi. 10.1002/(SICI)1097-4547(19980301)51:5<636::AID-JNR11>3.0.CO;2-0

By:

Bakken, Inger Johanne;
White, Linda R.;
Unsgård, Geirmund;
Aasly, Jan;
Sonnewald, Ursula

Publication type:

Article

NMR spectroscopy study of the effect of 3-nitropropionic acid on glutamate metabolism in cultured astrocytes.

Published in:

Journal of Neuroscience Research, 1997, v. 47, n. 6, p. 642, doi. 10.1002/(SICI)1097-4547(19970315)47:6<642::AID-JNR10>3.0.CO;2-X

By:

Bakken, Inger Johanne;
Johnsen, Svein F.;
White, Linda R.;
Unsgård, Geirmund;
Aasly, Jan;
Sonnewald, Ursula

Publication type:

Article

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2652, doi. 10.1093/brain/awae188

By:

Westenberger, Ana;
Skrahina, Volha;
Usnich, Tatiana;
Beetz, Christian;
Vollstedt, Eva-Juliane;
Laabs, Björn-Hergen;
Paul, Jefri J;
Curado, Filipa;
Skobalj, Snezana;
Gaber, Hanaa;
Olmedillas, Maria;
Bogdanovic, Xenia;
Ameziane, Najim;
Schell, Nathalie;
Aasly, Jan Olav;
Afshari, Mitra;
Agarwal, Pinky;
Aldred, Jason;
Alonso-Frech, Fernando;
Anderson, Roderick

Publication type:

Article

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

Published in:

2017

By:

Puschmann, Andreas;
Fiesel, Fabienne C.;
Caulfield, Thomas R.;
Hudec, Roman;
Ando, Maya;
Truban, Dominika;
Xu Hou;
Kotaro Ogaki;
Heckman, Michael G.;
James, Elle D.;
Swanberg, Maria;
Jimenez-Ferrer, Itzia;
Hansson, Oskar;
Opala, Grzegorz;
Siuda, Joanna;
Boczarska-Jedynak, Magdalena;
Friedman, Andrzej;
Koziorowski, Dariusz;
Rudzińska-Bar, Monika;
Aasly, Jan O.

Publication type:

Letter

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Published in:

2017

By:

Puschmann, Andreas;
Fiesel, Fabienne C.;
Caulfield, Thomas R.;
Hudec, Roman;
Ando, Maya;
Truban, Dominika;
Xu Hou;
Kotaro Ogaki;
Heckman, Michael G.;
James, Elle D.;
Swanberg, Maria;
Jimenez-Ferrer, Itzia;
Hansson, Oskar;
Opala, Grzegorz;
Siuda, Joanna;
Boczarska-Jedynak, Magdalena;
Friedman, Andrzej;
Koziorowski, Dariusz;
Aasly, Jan O.;
Lynch, Timothy

Publication type:

journal article

Ursocholanic acid rescues mitochondrial function in common forms of familial Parkinson’s disease.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3038, doi. 10.1093/brain/awt224

By:

Mortiboys, Heather;
Aasly, Jan;
Bandmann, Oliver

Publication type:

Article

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

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Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 818, doi. 10.1093/brain/awn007

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Bernt A. Engelsen;
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Massimo Zeviani;
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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

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Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1685, doi. 10.1093/brain/awl097

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Charalampos Tzoulis;
Bernt A. Engelsen;
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Jan Aasly;
Massimo Zeviani;
Synnøve Winterthun;
Gianfrancesco Ferrari;
Jan H. Aarseth;
Laurence A. Bindoff

Publication type:

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Reply to: Cognitive Effects of Deep Brain Stimulation in GBA‐Related Parkinson's Disease.

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Annals of Neurology, 2022, v. 92, n. 2, p. 345, doi. 10.1002/ana.26433

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Pal, Gian;
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Ouyang, Bichun;
Ehrlich, Debra;
Saunders‐Pullman, Rachel;
Bressman, Susan;
Alcalay, Roy N.;
Marder, Karen;
Aasly, Jan;
Mouradian, M. Maral;
Anderson, Sharlet;
Bernard, Bryan;
Stebbins, Glenn;
Sani, Sepehr;
Afshari, Mitra;
Verhagen, Leo;
de Bie, Rob M.A.;
Foltynie, Tom;
Hall, Deborah;
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Publication type:

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