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1

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, Charles Krieger, Neill Graff-Radford, Marife Fabros, Hannah Briemberg, Neil Cashman, Andrew Eisen, Ian R.A. Mackenzie

Journal:

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

2

Progressive Supranuclear Palsy: Pathology and Genetics

Dennis W. Dickson, Rosa Rademakers, Michael L. Hutton

Journal:

Brain Pathology

Year:

2007

Language:

english

File:

PDF, 532 KB

english, 2007

3

A novel de novo pathogenic mutation in the CACNA1A gene

Fujioka, Shinsuke, Rayaprolu, Sruti, Sundal, Christina, Broderick, Daniel F., Langley, William A., Shoffner, John, Hyams, Lauren C., Rademakers, Rosa, Graff-Radford, Neill R., Tatum, William, Ross, Ow

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 267 KB

english, 2012

4

Dominant Frontotemporal Dementia Mutations in 140 Cases of Primary Progressive Aphasia and Speech Apraxia

Flanagan, Eoin P., Baker, Matthew C., Perkerson, Ralph B., Duffy, Joseph R., Strand, Edythe A., Whitwell, Jennifer L., Machulda, Mary M., Rademakers, Rosa, Josephs, Keith A.

Journal:

Dementia and Geriatric Cognitive Disorders

Year:

2015

Language:

english

File:

PDF, 433 KB

english, 2015

5

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

Hirsch-Reinshagen, Veronica, Alfaify, Omar A., Hsiung, Ging-Yuek R., Pottier, Cyril, Baker, Matt, Perkerson, Ralph B., Rademakers, Rosa, Briemberg, Hanna, Foti, Dean J., Mackenzie, Ian R.

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2019

Language:

english

File:

PDF, 1.02 MB

english, 2019

6

Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP : the next generation

Townley, Ryan A., Polsinelli, Angelina J., Fields, Julie A., Machulda, Mary M., Jones, David T., Graff-Radford, Jonathan, Kantarci, Kejal M., Lowe, Val J., Rademakers, Rosa V., Baker, Matt C., Kumar,

Journal:

Year:

2020

File:

PDF, 5.58 MB

2020

7

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease

Bart Dermaut, Esther A. Croes, Rosa Rademakers, Marleen Van Den Broeck, Marc Cruts, Albert Hofman, Cornelia M. Van Duijn, Christine Van Broeckhoven

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

8

A novel presenilin 1 mutation associated with Pick's disease but not β-amyloid plaques

Bart Dermaut, Samir Kumar-Singh, Sebastian Engelborghs, Jessie Theuns, Rosa Rademakers, Jos Saerens, Barbara A. Pickut, Karin Peeters, Marleen Van Den Broeck, Krist'l Vennekens, Stephen Claes, Marc Cr

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 364 KB

english, 2004

9

Gene expression study on peripheral blood identifies progranulin mutations

Giovanni Coppola, Anna Karydas, Rosa Rademakers, Qing Wang, Matt Baker, Mike Hutton, Bruce L. Miller, Daniel H. Geschwind

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 199 KB

english, 2008

10

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

Ilse Gijselinck, Veerle Bogaerts, Rosa Rademakers, Julie van der Zee, Christine Van Broeckhoven, Marc Cruts

Journal:

Year:

2006

Language:

english

File:

PDF, 168 KB

english, 2006

11

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

Christian Wider, Ryan J. Uitti, Zbigniew K. Wszolek, John Y. Fang, Keith A. Josephs, Matthew C. Baker, Rosa Rademakers, Michael L. Hutton, Dennis W. Dickson

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 249 KB

english, 2008

12

TARDBP3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

Michael A. Gitcho, Eileen H. Bigio, Manjari Mishra, Nancy Johnson, Sandra Weintraub, Marsel Mesulam, Rosa Rademakers, Sumi Chakraverty, Carlos Cruchaga, John C. Morris, Alison M. Goate, Nigel J. Cairn

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 932 KB

english, 2009

13

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

Manuela Neumann, Sigrun Roeber, Hans A. Kretzschmar, Rosa Rademakers, Matt Baker, Ian R. A. Mackenzie

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 483 KB

english, 2009

14

Sporadic corticobasal syndrome due to FTLD-TDP

Maria Carmela Tartaglia, Manu Sidhu, Victor Laluz, Caroline Racine, Gil D. Rabinovici, Kelly Creighton, Anna Karydas, Rosa Rademakers, Eric J. Huang, Bruce L. Miller, Stephen J. DeArmond, William W. S

Journal:

Acta Neuropathologica

Year:

2010

Language:

english

File:

PDF, 562 KB

english, 2010

15

Pathological heterogeneity in amyotrophic lateral sclerosis withFUSmutations: two distinct patterns correlating with disease severity and mutation

Ian R. A. Mackenzie, Olaf Ansorge, Michael Strong, Juan Bilbao, Lorne Zinman, Lee-Cyn Ang, Matt Baker, Heather Stewart, Andrew Eisen, Rosa Rademakers, Manuela Neumann

Journal:

Acta Neuropathologica

Year:

2011

Language:

english

File:

PDF, 726 KB

english, 2011

16

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in theC9ORF72gene on chromosome 9p

Heather Stewart, Nicola J. Rutherford, Hannah Briemberg, Charles Krieger, Neil Cashman, Marife Fabros, Matt Baker, Alice Fok, Mariely DeJesus-Hernandez, Andrew Eisen, Rosa Rademakers, Ian R. A. Macken

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

17

Novel APP mutation V715A associated with presenile Alzheimer’s disease in a German family

Marc Cruts, Bart Dermaut, Rosa Rademakers, Marleen Broeck, Florian Stögbauer, Christine Broeckhoven

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 185 KB

english, 2003

18

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments

Ian R. A. Mackenzie, Rosa Rademakers

Journal:

Year:

2007

Language:

english

File:

PDF, 442 KB

english, 2007

19

The genetics of frontotemporal lobar degeneration

Rosa Rademakers, Mike Hutton

Journal:

Current Neurology and Neuroscience Reports

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

20

Human Genetics as a Tool to Identify Progranulin Regulators

Alexandra M. Nicholson, NiCole A. Finch, Rosa Rademakers

Journal:

Journal of Molecular Neuroscience

Year:

2011

Language:

english

File:

PDF, 124 KB

english, 2011

21

Symmetrical Corticobasal Syndrome Caused by a Novel c.314dupProgranulinMutation

Elise G. P. Dopper, Harro Seelaar, Wang Zheng Chiu, Inge de Koning, Rick van Minkelen, Matthew C. Baker, Annemieke J. M. Rozemuller, Rosa Rademakers, John C. van Swieten

Journal:

Journal of Molecular Neuroscience

Year:

2011

Language:

english

File:

PDF, 207 KB

english, 2011

22

Psychometric evaluation of personality in a patient with FTDP-17

Emilia J. Sitek, Ewa Narożańska, Jarosław Sławek, Jan Wójcik, Dariusz Wieczorek, Piotr Robowski, Michał Schinwelski, Barbara Jasińska-Myga, Matt Baker, Rosa Rademakers, Zbigniew K. Wszołek

Journal:

Psychiatry and Clinical Neurosciences

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

23

Unilateral neglect in a patient diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17

Emilia J. Sitek, Ewa Narożańska, Jarosław Sławek, Dariusz Wieczorek, Bogna Brockhuis, Piotr Lass, Mirosława Dubaniewicz, Barbara Jasińska-Myga, Matt Baker, Rosa Rademakers, Zbigniew K. Wszołek

Journal:

Acta Neuropsychiatrica

Year:

2009

Language:

english

File:

PDF, 497 KB

english, 2009

24

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Cruts, Marc, Gijselinck, Ilse, van der Zee, Julie, Engelborghs, Sebastiaan, Wils, Hans, Pirici, Daniel, Rademakers, Rosa, Vandenberghe, Rik, Dermaut, Bart, Martin, Jean-Jacques

Journal:

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

25

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Baker, Matt, Mackenzie, Ian R., Pickering-Brown, Stuart M., Gass, Jennifer, Rademakers, Rosa, Lindholm, Caroline, Snowden, Julie, Adamson, Jennifer, Sadovnick, A. Dessa, Rollinson, Sara

Journal:

Year:

2006

Language:

english

File:

PDF, 379 KB

english, 2006

26

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, Vivianna M, Sleiman, Patrick M A, Martinez-Lage, Maria, Chen-Plotkin, Alice, Wang, Li-San, Graff-Radford, Neill R, Dickson, Dennis W, Rademakers, Rosa, Boeve, Bradley F, Grossman, Murray

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 526 KB

english, 2010

27

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients

Nuytemans, Karen, Rademakers, Rosa, Theuns, Jessie, Pals, Philippe, Engelborghs, Sebastiaan, Pickut, Barbara, de Pooter, Tim, Peeters, Karin, Mattheijssens, Maria, Van den Broeck, Marleen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 304 KB

english, 2008

28

Angiogenin variation and Parkinson disease

Sruti Rayaprolu, Alexandra Soto-Ortolaza, Rosa Rademakers, Ryan J. Uitti, Zbigniew K. Wszolek, Owen A. Ross

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 710 KB

english, 2012

29

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

Matthew J. Winton, Vivianna M. Van Deerlin, Linda K. Kwong, Wuxing Yuan, Elisabeth McCarty Wood, Chang-En Yu, Gerard D. Schellenberg, Rosa Rademakers, Richard Caselli, Anna Karydas, John Q. Trojanowsk

Journal:

Year:

2008

Language:

english

File:

PDF, 343 KB

english, 2008

30

Tau is central in the genetic Alzheimer–frontotemporal dementia spectrum

Bart Dermaut, Samir Kumar-Singh, Rosa Rademakers, Jessie Theuns, Marc Cruts, Christine Van Broeckhoven

Journal:

Trends in Genetics

Year:

2005

Language:

english

File:

PDF, 252 KB

english, 2005

31

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

Rosa Rademakers, Matt Baker, Jennifer Gass, Jennifer Adamson, Edward D Huey, Parastoo Momeni, Salvatore Spina, Giovanni Coppola, Anna M Karydas, Heather Stewart, Nancy Johnson, Ging-Yuek Hsiung, Brend

Journal:

The Lancet Neurology

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

32

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

Ian RA Mackenzie, Rosa Rademakers, Manuela Neumann

Journal:

The Lancet Neurology

Year:

2010

Language:

english

File:

PDF, 973 KB

english, 2010

33

C9orf72 repeat expansions in patients with ALS and FTD

Rosa Rademakers

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

34

MRS in Early and Presymptomatic Carriers of a Novel Octapeptide Repeat Insertion in the Prion Protein Gene

Eric M McDade, Bradley F. Boeve, Julie A Fields, Neeraj Kumar, Rosa Rademakers, Matt C. Baker, BSc, David S. Knopman, Ronald C. Petersen, Clifford R. Jack Jr., Kejal Kantarci

Journal:

Journal of Neuroimaging

Year:

2012

Language:

english

File:

PDF, 571 KB

english, 2012

35

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation

Eileen H. Bigio, Sandra Weintraub, Rosa Rademakers, Matt Baker, Saman S. Ahmadian, Alfred Rademaker, Bing Bing Weitner, Qinwen Mao, Kyung-Hwa Lee, Manjari Mishra, Rakhee A. Ganti, M-Marsel Mesulam

Journal:

Year:

2012

Language:

english

File:

PDF, 2.41 MB

english, 2012

36

Dose dependent effect of APOE ɛ4 on behavioral symptoms in frontal lobe dementia

Sebastiaan Engelborghs, Bart Dermaut, Peter Mariën, Anoek Symons, Ellen Vloeberghs, Karen Maertens, Nore Somers, Johan Goeman, Rosa Rademakers, Marleen Van den Broeck, Barbara Pickut, Marc Cruts, Chri

Journal:

Neurobiology of Aging

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

37

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

Nicola J. Rutherford, Nicole A. Finch, Mariely DeJesus-Hernandez, Richard J.P. Crook, Catherine Lomen-Hoerth, Zbigniew K. Wszolek, Ryan J. Uitti, Neill R. Graff-Radford, Rosa Rademakers

Journal:

Neurobiology of Aging

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

38

Recent insights into the molecular genetics of dementia

Rosa Rademakers, Anne Rovelet-Lecrux

Journal:

Trends in Neurosciences

Year:

2009

Language:

english

File:

PDF, 423 KB

english, 2009

39

Association study between a promoter polymorphism in the presenilin 1 gene and late-onset Alzheimer's disease

Bart Dermaut, Gerwin Roks, Jolien Tol, Rosa Rademakers, Marc Cruts, Jeanine J. Houwing-Duistermaat, Christine Van Broeckhoven, Cornelia M. van Duijn

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 205 KB

english, 2000

40

A genome-wide search for novel early-onset Alzheimer disease genes

Marc Cruts, Rosa Rademakers, Marleen Van den Broeck, Cornelia M. van Duijn, Christine Van Broeckhoven

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

41

O3-05-01 A novel presenilin 1 mutation (gly183val) is associated with pick's disease in the absence of β-amyloid plaques

Bart Dermaut, Samir Kumar-Singh, Sebastiaan Engelborghs, Jessie Theuns, Rosa Rademakers, Karin Peeters, Stephan Claes, Marc Cruts, Jean-Jacques Martin, Peter De Deyn, Christine Van Broeckhoven

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

42

Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

Marc Cruts, Bart Dermaut, Rosa Rademakers, Gerwin Roks, Marleen Van den Broeck, Gabriela Munteanu, Cornelia M van Duijn, Christine Van Broeckhoven

Journal:

Neuroscience Letters

Year:

2001

Language:

english

File:

PDF, 67 KB

english, 2001

43

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

Brian A. Keller, Kathryn Volkening, Cristian A. Droppelmann, Lee Cyn Ang, Rosa Rademakers, Michael J. Strong

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 3.16 MB

english, 2012

44

Corticobasal degeneration: a pathologically distinct 4R tauopathy

Kouri, Naomi, Whitwell, Jennifer L., Josephs, Keith A., Rademakers, Rosa, Dickson, Dennis W.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2011

Language:

english

File:

PDF, 1.04 MB

english, 2011

45

Hippocampal sclerosis (HpScl) in the elderly with dementia: Clinical, genetic and pathologic findings

Winnie Pao, Dennis W. Dickson, Matthew C. Baker, Rosa Rademakers, Neill R. Graff-Radford

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 58 KB

english, 2009

46

Patterns of brain atrophy in frontotemporal dementia with mutations in MAPT or PGRN

Jennifer L. Whitwell, Clifford R. Jack Jr., Bradley F. Boeve, Matthew L. Senjem, Rosa Rademakers, Matthew Baker, Robert J. Ivnik, David S. Knopman, Zbigniew K. Wszolek, Ronald C. Petersen, Keith A. Jo

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 360 KB

english, 2009

47

MicroRNA dysregulation in frontotemporal lobar degeneration

Rosa Rademakers

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

48

Frontotemporal Dementia With FUS Pathology

Ian R. Mackenzie, Manuela Neumann, Rosa Rademakers, David G. Munoz

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

49

1H MR Spectroscopy in Presymptomatic MAPT mutation carriers: A Biomarker for Tau Mediated Pathology

Kejal Kantarci, Bradley F. Boeve, Zbigniew K. Wszolek, Rosa Rademakers, Jennifer L. Whitwell, Matt C. Baker, Matthew L. Senjem, David S. Knopman, Ronald C. Petersen, Clifford R. Jack Jr.

Journal:

Alzheimer's & Dementia

Year:

2010

Language:

english

File:

PDF, 210 KB

english, 2010

50

A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)

Gerard D. Schellenberg, Günter Höglinger, Patrick Sleiman, Rosa Rademakers, Lambertus Kei, Rohan de Silva, Li-San Wang, Chang-En Yu, Peter Heutink, John van Swieten, Mathew Farrer, John Hardy, Andrew

Journal:

Alzheimer's & Dementia

Year:

2010

Language:

english

File:

PDF, 64 KB

english, 2010