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Rosa Rademakers

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Ashley Cannon; Kevin B Boylan; Daniel F Broderick; Tanis J Ferman; Shinsuke Fujioka; Neill R Graff-Radford; Rosa Rademakers; Nicola J Rutherford; Ryan Uitti; Zbigniew K Wszolek; Dennis W Dickson
Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.
Eileen H Bigio; Rakhee A Ganti; Kyung-Hwa Lee; Qinwen Mao; Manjari Mishra; Alfred Rademaker; Rosa Rademakers; Sandra Weintraub; Bing Bing Weitner; Saman S Ahmadian; Matt Baker; M-Marsel Mesulam
Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.
Alexandra M Nicholson; Nicola J Rutherford; Christian Wider; Zbigniew K Wszolek; Matt C Baker; H Brent Clark; Dennis W Dickson; Nicole A Finch; Neill R Graff-Radford; David S Knopman; Peter T Nelson; Rosa Rademakers
CSF1R mutations link POLD and HDLS as a single disease entity.

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2013: Ashley Cannon; Kevin B Boylan; Daniel F Broderick; Tanis J Ferman; Shinsuke Fujioka; Neill R Graff-Radford; Rosa Rademakers; Nicola J Rutherford; Ryan Uitti; Zbigniew K Wszolek; Dennis W Dickson
Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.
Neurology 2013;80(19):1771-7.
2013: Eileen H Bigio; Rakhee A Ganti; Kyung-Hwa Lee; Qinwen Mao; Manjari Mishra; Alfred Rademaker; Rosa Rademakers; Sandra Weintraub; Bing Bing Weitner; Saman S Ahmadian; Matt Baker; M-Marsel Mesulam
Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.
Neuropathology : official journal of the Japanese Society of Neuropathology 2013;33(2):122-33.
2013: Alexandra M Nicholson; Nicola J Rutherford; Christian Wider; Zbigniew K Wszolek; Matt C Baker; H Brent Clark; Dennis W Dickson; Nicole A Finch; Neill R Graff-Radford; David S Knopman; Peter T Nelson; Rosa Rademakers
CSF1R mutations link POLD and HDLS as a single disease entity.
Neurology 2013;80(11):1033-40.
2013: Sruti Rayaprolu; Kevin B Boylan; Dennis W Dickson; Shinsuke Fujioka; Neill R Graff-Radford; Leonard Petrucelli; Rosa Rademakers; Alexandra I Soto-Ortolaza; Sharleen Traynor; Ryan Uitti; Zbigniew K Wszolek; Owen A Ross
TARDBP mutations in Parkinson's disease.
Parkinsonism & related disorders 2013;19(3):312-5.
2013: Shinsuke Fujioka; Rosa Rademakers; Owen A Ross; Audrey Strongosky; Christina Sundal; Carles vilarino-guell; Zbigniew K Wszolek; Monica Case Castanedes; Matthew J Farrer; Dennis W Dickson
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.
Acta neuropathologica 2013;125(3):425-38.
2013: Elizabeth A Coon; Jasper R Daube; Mariely Dejesus-Hernandez; Dennis W Dickson; Robert J Ivnik; Kris A Johnson; Keith A Josephs; David S Knopman; Joseph E Parisi; Ronald C Petersen; Rosa Rademakers; Rodolfo Savica; Anahita Adeli; Matthew C Baker; Kevin B Boylan; Bradley F Boeve
Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013;14(2):132-7.
2013: Peter E A Ash; Kevin F Bieniek; Kevin B Boylan; Thomas Caulfield; Mariely Dejesus-Hernandez; Dennis W Dickson; Tania F Gendron; Karen Jansen-West; Wen-Lang Lin; Joseph W Paul; Rosa Rademakers; Marka M van Blitterswijk; Leonard Petrucelli
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Neuron 2013;77(4):639-46.
2013: Keith A Josephs; David S Knopman; Melissa E Murray; Joseph E Parisi; Ronald C Petersen; Rosa Rademakers; Matthew L Senjem; Jennifer L Whitwell; Bradley F Boeve; Neill R Graff-Radford; Clifford R Jack; Dennis W Dickson
Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia.
Brain : a journal of neurology 2013;136(Pt 2):455-70.
2013: Rosa Rademakers; Marka van Blitterswijk
Motor neuron disease in 2012: Novel causal genes and disease modifiers.
Nature reviews. Neurology 2013;9(2):63-4.
2013: Mariely Dejesus-Hernandez; Neill R Graff-Radford; Michael G Heckman; Siong-Chi Lin; Rosa Rademakers; Sruti Rayaprolu; Nicola J Rutherford; Jerry J Shih; Alexandra I Soto-Ortolaza; Audrey Strongosky; Sharleen Traynor; Ryan Uitti; Jay A Van Gerpen; Zbigniew K Wszolek; Owen A Ross
Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.
Parkinsonism & related disorders 2013;19(2):198-201.
2013: Kevin F Bieniek; Kevin B Boylan; Monica Castanedes-Casey; Mariely DeJesus-Hernandez; Amanda M Liesinger; Melissa E Murray; Rosa Rademakers; Nicola J Rutherford; Matthew C Baker; Dennis W Dickson
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.
Acta neuropathologica 2013;125(2):289-302.
2013: Jennifer L Whitwell; Jia Xu; Bradley F Boeve; Dennis W Dickson; Clifford R Jack; David S Knopman; Jay Mandrekar; Joseph E Parisi; Ronald C Petersen; Rosa Rademakers; Matthew L Senjem; Keith A Josephs
Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates.
Neurobiology of aging 2013;34(2):636-9.
2013: Rita Guerreiro; John Hardy; Lilinaz Hazrati; John S K Kauwe; Jean-Charles Lambert; Tammaryn Lashley; Elisa Majounie; Kevin Morgan; Jennifer Pocock; John Powell; Rosa Rademakers; Ekaterina Rogaeva; Celeste Sassi; Andrew Singleton; Peter St George-Hyslop; Julie Williams; Aleksandra Wojtas; Steven Younkin; Philippe Amouyel; Jose Bras; Minerva Carrasquillo; John Collinge; Carlos Cruchaga; Alison Goate
TREM2 variants in Alzheimer's disease.
The New England journal of medicine 2013;368(2):117-27.
2013: Tania F Gendron; Rosa Rademakers; Leonard Petrucelli
TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43.
Journal of Alzheimer's disease : JAD 2013;33 Suppl 1():S35-45.
2012: Mercedes Prudencio; Rosa Rademakers; Caroline Stetler; Cristiana Stuani; Ya-Fei Xu; Yong-Jie Zhang; Emanuele Buratti; Dennis W Dickson; Jennifer Gass; Tania F Gendron; Karen R Jansen-West; Wing C Lee; Leonard Petrucelli
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(52):21510-5.
2012: Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
Current opinion in neurology 2012;25(6):689-700.
2012: Andrew P Duker; Alberto J Espay; Rosa Rademakers; Zbigniew K Wszolek; Dennis W Dickson; Brendan J Kelley
Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach.
The neurologist 2012;18(5):266-72.
2012: Nicola J Rutherford; Steven G Younkin; Gina Bisceglio; Minerva M Carrasquillo; Dennis W Dickson; Neill R Graff-Radford; Keith A Josephs; Ma Li; Joshua Menke; Joseph E Parisi; Ronald C Petersen; Rosa Rademakers
TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.
Neurology 2012;79(7):717-8.
2012: Rosa Rademakers; Manuela Neumann; Ian R Mackenzie
Advances in understanding the molecular basis of frontotemporal dementia.
Nature reviews. Neurology 2012;8(8):423-34.
2012: Sruti Rayaprolu; Alexandra Soto-Ortolaza; Ryan J Uitti; Zbigniew K Wszolek; Rosa Rademakers; Owen A Ross
Angiogenin variation and Parkinson disease.
Annals of neurology 2012;71(5):725-7; author reply 727-8.
2012: Rosa Rademakers
C9orf72 repeat expansions in patients with ALS and FTD.
Lancet neurology 2012;11(4):297-8.
2012: Christian Wider; Zbigniew K Wszolek; Ranjan Duara; Nilufer Erketin-Taner; Matthew J Farrer; Neill R Graff-Radford; Michael G Heckman; Barbara Jasinska-Myga; Deborah C Mash; Kenya Nishioka; Spiridon Papapetropoulos; Rosa Rademakers; Owen A Ross; Hirotake Uchikado; Carles vilarino-guell; Dennis W Dickson
An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology.
Journal of neurology, neurosurgery, and psychiatry 2012;83(4):424-9.
2012: Christina Sundal; Alexandros Tselis; Sarka Øygarden; Jan Aasly; Daniel Broderick; Dennis W Dickson; James Y Garbern; Hans Kretzschman; Jennifer Lash; Rosa Rademakers; Sigrun Roeber; Zbigniew K Wszolek
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.
Journal of the neurological sciences 2012;314(1-2):130-7.
2012: Ging-Yuek R Hsiung; Bonnie Leung; Rosa Rademakers; Nicola J Rutherford; Pheth Sengdy; Matt Baker; Phoenix Bouchard-Kerr; Rachel Butler; Mariely DeJesus-Hernandez; Emily Dwosh; Howard H Feldman; Alice Fok; Ian R A Mackenzie
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
Brain : a journal of neurology 2012;135(Pt 3):709-22.
2012: Heather Stewart; Rosa Rademakers; Nicola J Rutherford; Matt Baker; Hannah Briemberg; Neil Cashman; Mariely DeJesus-Hernandez; Andrew Eisen; Marife Fabros; Alice Fok; Charles Krieger; Ian R A Mackenzie
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.
Acta neuropathologica 2012;123(3):409-17.
2012: Nicola J Rutherford; Ryan J Uitti; Zbigniew K Wszolek; Richard J P Crook; Mariely DeJesus-Hernandez; Nicole A Finch; Neill R Graff-Radford; Catherine Lomen-Hoerth; Rosa Rademakers
Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis.
Neurobiology of aging 2012;33(2):424.e23-4.
2012: Aleksandra Wojtas; Steven G Younkin; Matt Baker; Mariely Dejesus-Hernandez; Dennis W Dickson; Nicole Finch; Neill R Graff-Radford; Kristin A Heggeli; Rosa Rademakers
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
American journal of neurodegenerative disease 2012;1(1):107-18.
2012: Jennifer Gass; Karen Jansen-West; Wing C Lee; Jada Lewis; Christopher D Link; Anders Nykjaer; Casey Cook; Nicole Finch; Rosa Rademakers; Caroline Stetler; Leonard Petrucelli
Progranulin regulates neuronal outgrowth independent of sortilin.
Molecular neurodegeneration 2012;7():33.
2012: Alexandra M Nicholson; Leonard Petrucelli; Jennifer Gass; Rosa Rademakers
Progranulin axis and recent developments in frontotemporal lobar degeneration.
Alzheimer's research & therapy 2012;4(1):4.
2012: Kin Mok; Gabriele Mora; Huw R Morris; Karen E Morrison; Liisa Myllykangas; Michael A Nalls; Richard W Orrell; Terhi Peuralinna; Stuart Pickering-Brown; Rosa Rademakers; Gabriella Restagno; Pamela Sara Rollinson; Jennifer C Schymick; Aleksey Shatunov; Pamela J Shaw; Javier Simón-Sánchez; Pentti J Tienari; Bryan Joseph Traynor; John C van Swieten; Adrian Waite; Nigel Williams; Ammar Al-Chalabi; Bradley F Boeve; Adam L Boxer; Adriano Chio; Mariely DeJesus-Hernandez; Peter Heutink; Hannu Laaksovirta; Ian R Mackenzie; John Hardy
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
Neurobiology of aging 2012;33(1):209.e3-8.
2011: Melissa E Murray; Rosa Rademakers; Nicola J Rutherford; Zbigniew K Wszolek; Matt Baker; Kevin B Boylan; Mariely DeJesus-Hernandez; Ranjan Duara; Tanis J Ferman; Neill R Graff-Radford; Keith A Josephs; Dennis W Dickson
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.
Acta neuropathologica 2011;122(6):673-90.
2011: Naomi Kouri; Irene Litvan; Melissa E Murray; Rosa Rademakers; Ryan Uitti; Zbigniew K Wszolek; Bradley F Boeve; Neill R Graff-Radford; Anhar Hassan; Keith A Josephs; Dennis W Dickson
Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome.
Brain : a journal of neurology 2011;134(Pt 11):3264-75.
2011: Alexandra M Nicholson; NiCole A Finch; Rosa Rademakers
Human genetics as a tool to identify progranulin regulators.
Journal of molecular neuroscience : MN 2011;45(3):532-7.
2011: Mariely DeJesus-Hernandez; Dennis W Dickson; Howard Feldman; NiCole A Finch; Heather Flynn; Daniel Geschwind; Neill R Graff-Radford; Ging-Yuek R Hsiung; Keith A Josephs; Anna Karydas; David S Knopman; Naomi Kouri; Ian R A Mackenzie; Bruce L Miller; Alexandra M Nicholson; Ronald C Petersen; Jennifer Adamson; Matt Baker; Bradley F Boeve; Adam L Boxer; Kevin B Boylan; Giovanni Coppola; Nicola J Rutherford; William W Seeley; Pheth Sengdy; Aleksandra Wojtas; Zbigniew K Wszolek; Rosa Rademakers
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Neuron 2011;72(2):245-56.
2011: Winnie C Pao; Rosa Rademakers; Julia E Crook; Dennis W Dickson; NiCole A Finch; Neill R Graff-Radford
Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically.
Alzheimer disease and associated disorders 2011;25(4):364-8.
2011: M DeJesus-Hernandez; P Desaro; Nilüfer Ertekin-Taner; Neill R Graff-Radford; A Johnston; Rosa Rademakers; Owen A Ross; Zbigniew K Wszolek; K Boylan
Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.
Neurology 2011;77(11):1102-3.
2011: Neeraj Kumar; Karen Kuntz; Anil K Nair; Carolyn F Orr; Joseph E Parisi; Rosa Rademakers; Barbara F Westmoreland; Bryan Woodruff; Matthew Baker; Bradley F Boeve; Brendon P Boot; Joseph Duffy; Jay Ellison; Julie A Fields; Clifford R Jack; Kejal Kantarci; dennis dickson
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
Archives of neurology 2011;68(9):1165-70.
2011: Manuela Neumann; Rosa Rademakers; Sigrun Roeber; Osamu Yokota; David G Munoz; Lee Cyn Ang; Olaf Ansorge; Eva Bentmann; Juan Bilbao; Mariely DeJesus-Hernandez; Dorothee Dormann; Christian Haass; Ali Jawaid; Hans A Kretzschmar; Hirofumi Kusaka; Ian R A Mackenzie
FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.
Brain : a journal of neurology 2011;134(Pt 9):2595-609.
2011: Jennifer L Whitwell; Z K Wszolek; Rajeswari Avula; M Baker; Bradley Boeve; Jeffrey L Gunter; D T Jones; Keith A Josephs; David S. Knopman; Ronald C. Petersen; Rosa Rademakers; M L Senjem; N Tosakulwong; Prashanthi Vemuri; Stephen D Weigand; Clifford R Jack
Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD.
Neurology 2011;77(9):866-74.
2011: Naomi Kouri; Jennifer L Whitwell; Keith A Josephs; Rosa Rademakers; dennis dickson
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Nature reviews. Neurology 2011;7(5):263-72.
2011: Ging-Yuek R Hsiung; Alice Fok; Howard H Feldman; Rosa Rademakers; Ian R A Mackenzie
rs5848 polymorphism and serum progranulin level.
Journal of the neurological sciences 2011;300(1-2):28-32.
2011: Jannet Kocerha; Naomi Kouri; Matt Baker; Bradley F Boeve; Kumaravel Chidamparam; Julia Crook; Mariely DeJesus-Hernandez; Dennis W Dickson; NiCole Finch; John Gonzalez; Neill R Graff-Radford; Keith A Josephs; Rosa Rademakers
Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.
BMC genomics 2011;12():527.
2010: Jennifer L Whitwell; Clifford R Jack; Joseph E Parisi; M L Senjem; David S. Knopman; Bradley Boeve; Rosa Rademakers; M Baker; Ronald C. Petersen; dennis dickson; Keith A Josephs
Does TDP-43 type confer a distinct pattern of atrophy in frontotemporal lobar degeneration?
Neurology 2010;75(24):2212-20.
2010: Minerva M Carrasquillo; Alexandra M Nicholson; NiCole Finch; J Raphael Gibbs; Matt Baker; Nicola J Rutherford; Talisha A Hunter; Mariely DeJesus-Hernandez; Gina D Bisceglio; Ian R Mackenzie; Andrew Singleton; Mark Cookson; Julia E Crook; Allissa Dillman; Dena Hernandez; Ronald C. Petersen; Neill R Graff-Radford; Steven G Younkin; Rosa Rademakers
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
American journal of human genetics 2010;87(6):890-7.
2010: Ian Ra Mackenzie; Rosa Rademakers; Manuela Neumann
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.
Lancet neurology 2010;9(10):995-1007.
2010: Ya-Fei Xu; Tania F Gendron; Yong-Jie Zhang; Wen-Lang Lin; Simon D'Alton; Hong Sheng; Monica Castanedes Casey; Jimei Tong; Joshua Knight; Xin Yu; Rosa Rademakers; Kevin Boylan; Michael Hutton; Eileen McGowan; dennis dickson; Jada Lewis; Leonard Petrucelli
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(32):10851-9.
2010: Rosa Rademakers; Heather Stewart; Mariely Dejesus-Hernandez; Charles Krieger; Neill Graff-Radford; Marife Fabros; Hannah Briemberg; Neil Cashman; Andrew Eisen; Ian R A Mackenzie
Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.
Muscle & nerve 2010;42(2):170-6.
2010: Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Baker; Pamela Desaro; Amelia Johnston; Nicola Rutherford; Aleksandra Wojtas; Kathleen Kennelly; Zbigniew K Wszolek; Neill Graff-Radford; Kevin Boylan; Rosa Rademakers
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.
Human mutation 2010;31(5):E1377-89.
2010: Brendan J Kelley; Wael Haidar; Bradley F Boeve; Matt Baker; Maria M Shiung; David S. Knopman; Rosa Rademakers; Michael Hutton; Jennifer Adamson; Karen M Kuntz; dennis dickson; Joseph E Parisi; Glenn Smith; Ronald C. Petersen
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
Archives of neurology 2010;67(2):171-7.
2010: dennis dickson; Matthew Baker; Rosa Rademakers
Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.
Neuro-degenerative diseases 2010;7(1-3):170-4.
2009: Jennifer L Whitwell; Clifford R Jack; Bradley Boeve; M L Senjem; M Baker; Robert J Ivnik; David S. Knopman; Zbigniew K Wszolek; Ronald C. Petersen; Rosa Rademakers; Keith A Josephs
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.
Neurology 2009;73(13):1058-65.
2009: Rosa Rademakers; Anne Rovelet-Lecrux
Recent insights into the molecular genetics of dementia.
Trends in neurosciences 2009;32(8):451-61.
2009: B Jasinska-Myga; C Wider; Grzegorz Opala; Anna Krygowska-Wajs; Maria Barcikowska; Krzysztof Czyzewski; Matt Baker; Rosa Rademakers; Ryan Uitti; Matthew J Farrer; Owen A Ross; Zbigniew K Wszolek
GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2009;16(8):909-11.
2009: Carles vilarino-guell; C Wider; A I Soto-Ortolaza; Stephanie A Cobb; Jennifer Kachergus; B H Keeling; J C Dachsel; Mary Hulihan; dennis dickson; Zbigniew K Wszolek; Ryan Uitti; Neill R Graff-Radford; Bradley Boeve; Keith A Josephs; Bruce L Miller; K B Boylan; Katrina Gwinn-Hardy; Charles H Adler; Jan Aasly; Faycal Hentati; Alain Destée; Anna Krygowska-Wajs; Marie-Christine Chartier-Harlin; Owen A Ross; Rosa Rademakers; Matthew J Farrer
Characterization of DCTN1 genetic variability in neurodegeneration.
Neurology 2009;72(23):2024-8.
2009: Christian Wider; dennis dickson; A Jon Stoessl; Yoshio Tsuboi; Françoise Chapon; Ludwig Gutmann; Bernard Lechevalier; Donald B Calne; David A Personett; Mary Hulihan; Jennifer Kachergus; Rosa Rademakers; Matthew C Baker; Linda L Grantier; O K Sujith; Laura Brown; Susan M Calne; Matthew J Farrer; Zbigniew K Wszolek
Pallidonigral TDP-43 pathology in Perry syndrome.
Parkinsonism & related disorders 2009;15(4):281-6.
2009: Brendan J Kelley; Wael Haidar; Bradley Boeve; Matt Baker; Neill R Graff-Radford; Thomas Krefft; Andrew R Frank; Clifford R Jack; Maria M Shiung; David S. Knopman; Keith A Josephs; Sotirios A Parashos; Rosa Rademakers; Michael Hutton; Stuart Pickering-Brown; Jennifer Adamson; Karen M Kuntz; dennis dickson; Joseph E Parisi; Glenn Smith; Robert J Ivnik; Ronald C. Petersen
Prominent phenotypic variability associated with mutations in Progranulin.
Neurobiology of aging 2009;30(5):739-51.
2009: NiCole Finch; Matt Baker; Richard Crook; Katie Swanson; Karen Kuntz; Rebecca Surtees; Gina Bisceglio; Anne Rovelet-Lecrux; Bradley Boeve; Ronald C. Petersen; dennis dickson; Steven G Younkin; Vincent Deramecourt; Julia Crook; Neill R Graff-Radford; Rosa Rademakers
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Brain : a journal of neurology 2009;132(Pt 3):583-91.
2008: Ian R A Mackenzie; Rosa Rademakers
The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia.
Current opinion in neurology 2008;21(6):693-700.
2008: Christian Wider; Ryan Uitti; Zbigniew K Wszolek; John Y Fang; Keith A Josephs; Matthew C Baker; Rosa Rademakers; Michael Hutton; dennis dickson
Progranulin gene mutation with an unusual clinical and neuropathologic presentation.
Movement disorders : official journal of the Movement Disorder Society 2008;23(8):1168-73.
2008: Keith A Josephs; Jennifer L Whitwell; David S. Knopman; William T Hu; D A Stroh; M Baker; Rosa Rademakers; Bradley Boeve; Joseph E Parisi; Glenn Smith; Robert J Ivnik; Ronald C. Petersen; Clifford R Jack; dennis dickson
Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype.
Neurology 2008;70(19 Pt 2):1850-7.
2008: Karen Nuytemans; Rosa Rademakers; Jessie Theuns; Philippe Pals; Sebastiaan Engelborghs; Barbara A Pickut; Tim De Pooter; Karin Peeters; Maria Mattheijssens; Marleen Van den Broeck; Patrick Cras; Peter Paul De Deyn; Christine Van Broeckhoven
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
European journal of human genetics : EJHG 2008;16(4):471-9.
2007: Ian R A Mackenzie; Rosa Rademakers
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Neurogenetics 2007;8(4):237-48.
2007: S Davion; N Johnson; Sandra Weintraub; Marek-Marsel Mesulam; A Engberg; M Mishra; M Baker; Jennifer Adamson; Michael Hutton; Rosa Rademakers; Eileen H Bigio
Clinicopathologic correlation in PGRN mutations.
Neurology 2007;69(11):1113-21.
2007: Rosa Rademakers; Michael Hutton
The genetics of frontotemporal lobar degeneration.
Current neurology and neuroscience reports 2007;7(5):434-42.
2007: Jennifer C Schymick; Y Yang; Peter M Andersen; J P Vonsattel; Matthew J Greenway; Parastoo Momeni; Joshua Elder; Adriano Chio; Gabriella Restagno; Wim Robberecht; C Dahlberg; O Mukherjee; Alison Goate; N Graff-Radford; Richard Caselli; Michael Hutton; Jennifer Gass; A Cannon; Rosa Rademakers; Andrew Singleton; Orla Hardiman; Jeffrey rothstein; John Hardy; Bryan Joseph Traynor
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.
Journal of neurology, neurosurgery, and psychiatry 2007;78(7):754-6.
2007: Jennifer L Whitwell; Clifford R Jack; Matthew Baker; Rosa Rademakers; Jennifer Adamson; Bradley Boeve; David S. Knopman; Joseph E Parisi; Ronald C. Petersen; dennis dickson; Michael Hutton; Keith A Josephs
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations.
Archives of neurology 2007;64(3):371-6.
2007: Keith A Josephs; Zeshan Ahmed; Omi Katsuse; Joseph E Parisi; Bradley Boeve; David S. Knopman; Ronald C. Petersen; Peter Davies; Ranjan Duara; Neill R Graff-Radford; Ryan Uitti; Rosa Rademakers; Jennifer Adamson; Matthew Baker; Michael Hutton; dennis dickson
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
Journal of neuropathology and experimental neurology 2007;66(2):142-51.
2007: dennis dickson; Rosa Rademakers; Michael Hutton
Progressive supranuclear palsy: pathology and genetics.
Brain pathology (Zurich, Switzerland) 2007;17(1):74-82.
2006: Ian R A Mackenzie; Matt Baker; Stuart Pickering-Brown; Ging-Yuek R Hsiung; Caroline Lindholm; Emily Dwosh; Jennifer Gass; Ashley Cannon; Rosa Rademakers; Michael Hutton; Howard H Feldman
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
Brain : a journal of neurology 2006;129(Pt 11):3081-90.
2006: Bradley Boeve; Matt Baker; dennis dickson; Joseph E Parisi; Caterina Giannini; Keith A Josephs; Michael Hutton; Stuart Pickering-Brown; Rosa Rademakers; David F Tang-Wai; Clifford R Jack; Kejal Kantarci; Maria M Shiung; todd golde; Glenn Smith; Yonas E Geda; David S. Knopman; Ronald C. Petersen
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.
Brain : a journal of neurology 2006;129(Pt 11):3103-14.
2006: Jennifer Gass; Ashley Cannon; Ian R A Mackenzie; Bradley Boeve; Matt Baker; Jennifer Adamson; Richard Crook; Stacey Melquist; Karen Kuntz; Ronald C. Petersen; Keith A Josephs; Stuart Pickering-Brown; Neill R Graff-Radford; Ryan Uitti; dennis dickson; Zbigniew K Wszolek; John Gonzalez; Thomas Beach; Eileen H Bigio; Nancy Johnson; Sandra Weintraub; Marek-Marsel Mesulam; Charles L White; Bryan Woodruff; Richard Caselli; Ging-Yuek Hsiung; Howard Feldman; David S. Knopman; Michael Hutton; Rosa Rademakers
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Human molecular genetics 2006;15(20):2988-3001.
2006: Ilse Gijselinck; Veerle Bogaerts; Rosa Rademakers; Julie van der Zee; Christine Van Broeckhoven; Marc Cruts
Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients.
Human mutation 2006;27(10):1057-9.
2006: Matt Baker; Ian R A Mackenzie; Stuart Pickering-Brown; Jennifer Gass; Rosa Rademakers; Caroline Lindholm; Julie Snowden; Jennifer Adamson; A Dessa Sadovnick; Sara Rollinson; Ashley Cannon; Emily Dwosh; David Neary; Stacey Melquist; Anna Richardson; dennis dickson; Zdenek Berger; Jason Eriksen; Todd Robinson; Cynthia Zehr; Chad A Dickey; Richard Crook; Eileen McGowan; D M A Mann; Bradley Boeve; Howard Feldman; Michael Hutton
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Nature 2006;442(7105):916-9.
2006: Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; C.M. Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter Paul De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Nature 2006;442(7105):920-4.
2006: Julie van der Zee; Rosa Rademakers; Sebastiaan Engelborghs; Ilse Gijselinck; Veerle Bogaerts; Rik Vandenberghe; Patrick Santens; Jo Caekebeke; Tim De Pooter; Karin Peeters; Ursula Lübke; Marleen Van den Broeck; Jean-Jacques Martin; Marc Cruts; Peter Paul De Deyn; Christine Van Broeckhoven; Bart Dermaut
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
Brain : a journal of neurology 2006;129(Pt 4):841-52.
2006: Daniel Pirici; Rik Vandenberghe; Rosa Rademakers; Bart Dermaut; Marc Cruts; Krist'l Vennekens; Ivy Cuijt; Ursula Lübke; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven; Samir Kumar-Singh
Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.
Journal of neuropathology and experimental neurology 2006;65(3):289-301.
2006: Sebastiaan Engelborghs; Bart Dermaut; Peter Mariën; Anoek Symons; Ellen Vloeberghs; Karen Maertens; Nore Somers; Johan Goeman; Rosa Rademakers; Marleen Van den Broeck; Barbara A Pickut; Marc Cruts; Christine Van Broeckhoven; Peter Paul De Deyn
Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.
Neurobiology of aging 2006;27(2):285-92.
2005: Bart Dermaut; Samir Kumar-Singh; Rosa Rademakers; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Trends in genetics : TIG 2005;21(12):664-72.
2005: Rosa Rademakers; Stacey Melquist; Marc Cruts; Jessie Theuns; Jurgen Del-Favero; Parvoneh Poorkaj-Navas; Matt Baker; Kristel Sleegers; Richard Crook; Tim De Pooter; Samira Bel Kacem; Jennifer Adamson; Dirk Van den Bossche; Marleen Van den Broeck; Jennifer Gass; Ellen Corsmit; Peter De Rijk; Natalie Thomas; Sebastiaan Engelborghs; Michael G Heckman; Irene Litvan; Julia Crook; Peter Paul De Deyn; dennis dickson; Gerard D Schellenberg; Christine Van Broeckhoven; Michael Hutton
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Human molecular genetics 2005;14(21):3281-92.
2005: Rosa Rademakers; Marc Cruts; Kristel Sleegers; Bart Dermaut; Jessie Theuns; Yurii Aulchenko; Stefan Weckx; Tim De Pooter; Marleen Van den Broeck; Ellen Corsmit; Peter De Rijk; Jurgen Del-Favero; John C van Swieten; C.M. Duijn; Christine Van Broeckhoven
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
American journal of human genetics 2005;77(4):643-52.
2005: Rosa Rademakers; Kristel Sleegers; Jessie Theuns; Marleen Van den Broeck; Samira Bel Kacem; Lars-Göran Nilsson; Rolf Adolfsson; C.M. Duijn; Christine Van Broeckhoven; Marc Cruts
Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease.
Neurobiology of aging 2005;26(8):1145-51.
2005: Marc Cruts; Rosa Rademakers; Ilse Gijselinck; Julie van der Zee; Bart Dermaut; Tim De Pooter; Peter De Rijk; Jurgen Del-Favero; Christine Van Broeckhoven
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
Human molecular genetics 2005;14(13):1753-62.
2005: Stefan Weckx; Jurgen Del-Favero; Rosa Rademakers; Lieve R F Claes; Marc Cruts; Peter De Jonghe; Christine Van Broeckhoven; Peter De Rijk
novoSNP, a novel computational tool for sequence variation discovery.
Genome research 2005;15(3):436-42.
2004: Rosa Rademakers; Marc Cruts; Christine Van Broeckhoven
The role of tau (MAPT) in frontotemporal dementia and related tauopathies.
Human mutation 2004;24(4):277-95.
2004: Kristel Sleegers; Gerwin Roks; Jessie Theuns; Yurii Aulchenko; Rosa Rademakers; Marc Cruts; Willem A van Gool; Christine Van Broeckhoven; Peter Heutink; Ben A Oostra; John C van Swieten; C.M. Duijn
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.
Brain : a journal of neurology 2004;127(Pt 7):1641-9.
2004: Bart Dermaut; Samir Kumar-Singh; Sebastiaan Engelborghs; Jessie Theuns; Rosa Rademakers; Jos Saerens; Barbara A Pickut; Karin Peeters; Marleen Van den Broeck; Krist'l Vennekens; Stephan J Claes; Marc Cruts; Patrick Cras; Jean-Jacques Martin; Christine Van Broeckhoven; Peter Paul De Deyn
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
Annals of neurology 2004;55(5):617-26.
2004: Rosa Rademakers; Marleen Van den Broeck; Kristel Sleegers; C.M. Duijn; Christine Van Broeckhoven; Marc Cruts
Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.
Neurogenetics 2004;5(1):79-80.
2003: Marc Cruts; Bart Dermaut; Rosa Rademakers; Marleen Van den Broeck; Florian Stögbauer; Christine Van Broeckhoven
Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.
Journal of neurology 2003;250(11):1374-5.
2003: Rosa Rademakers; Bart Dermaut; Karin Peeters; Marc Cruts; Peter Heutink; Alison Goate; Christine Van Broeckhoven
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
Human mutation 2003;22(5):409-11.
2003: Rosa Rademakers; Marc Cruts; Christine Van Broeckhoven
Genetics of early-onset Alzheimer dementia.
TheScientificWorldJournal 2003;3():497-519.
2003: Bart Dermaut; Esther A Croes; Rosa Rademakers; Marleen Van den Broeck; Marc Cruts; Albert Hofman; C.M. Duijn; Christine Van Broeckhoven
PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.
Annals of neurology 2003;53(3):409-12.
2002: Rosa Rademakers; Marc Cruts; Bart Dermaut; Kristel Sleegers; S M Rosso; Marleen Van den Broeck; Hubert Backhovens; John C van Swieten; C.M. Duijn; Christine Van Broeckhoven
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.
Molecular psychiatry 2002;7(10):1064-74.
2001: Marc Cruts; Bart Dermaut; Rosa Rademakers; Gerwin Roks; Marleen Van den Broeck; G Munteanu; C.M. Duijn; Christine Van Broeckhoven
Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease.
Neuroscience letters 2001;313(1-2):105-7.
2001: Bart Dermaut; Gerwin Roks; Jessie Theuns; Rosa Rademakers; Jeanine J Houwing-Duistermaat; Sally Serneels; Albert Hofman; Monique Breteler; Marc Cruts; Christine Van Broeckhoven; C.M. Duijn
Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease.
Journal of neurology 2001;248(11):935-9.