Rosa Rademakers

发表

Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

Andrew J. Lees, Allissa Dillman, Li-San Wang, 2011, Nature Genetics.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

Progressive Supranuclear Palsy: Pathology and Genetics

Dennis W Dickson, D. Dickson, M. Hutton, 2007, Brain pathology.

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Rosa Rademakers, Marka van Blitterswijk, Mariely DeJesus-Hernandez, 2012, Current opinion in neurology.

Frontotemporal dementia and its subtypes: a genome-wide association study

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study

Veronica Redaelli, Sebastien Ourselin, Martina Bocchetta, 2019, Brain : a journal of neurology.

Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease

Bruce L. Miller, William W. Seeley, Joel H. Kramer, 2013, Alzheimer disease and associated disorders.

Detection of long repeat expansions from PCR-free whole-genome sequence data

Chris Shaw, Giuseppe Narzisi, Aleksey Shatunov, 2016, bioRxiv.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Owen A. Ross, Dennis W. Dickson, A. Jon Stoessl, 2013, neurogenetics.

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

Clifford R. Jack, Matthew L. Senjem, Ronald C. Petersen, 2009, Alzheimer's & Dementia.

Detection of long repeat expansions from PCR-free whole-genome sequence data

Aleksey Shatunov, Egor Dolzhenko, Joke J.F.A. van Vugt, 2016 .

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.

Pritam Das, Guojun Bu, Ronald C Petersen, 2014, Brain : a journal of neurology.

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.

Giovanni Coppola, Michael W Weiner, Mochtar Pribadi, 2014, Brain : a journal of neurology.

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.

Olaf Ansorge, Christian Haass, H. Kretzschmar, 2011, Brain : a journal of neurology.

Analysis of COQ2 gene in multiple system atrophy

Shinsuke Fujioka, Yan Asmann, William P Cheshire, 2014, Molecular Neurodegeneration.

TYROBP genetic variants in early-onset Alzheimer's disease

Ronald C. Petersen, Guojun Bu, Cyril Pottier, 2016, Neurobiology of Aging.

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Murray Grossman, Jordan Grafman, Nilüfer Ertekin-Taner, 2015, Nature Communications.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Allissa Dillman, Ronald C Petersen, Mark R Cookson, 2010, American journal of human genetics.

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

Mirza Faisal Beg, Karteek Popuri, Mahadev Bhalla, 2018, NeuroImage: Clinical.

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Dennis W Dickson, D. Dickson, S. Younkin, 2012, American journal of neurodegenerative disease.

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

Anders M. Dale, Bruce Fischl, Howard J. Rosen, 2017, Acta Neuropathologica.

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

Howard J. Rosen, Bruce L. Miller, Jesse A. Brown, 2016, NeuroImage: Clinical.

Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations.

Clifford R Jack, Ronald C Petersen, David S Knopman, 2007, Archives of neurology.

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Bruce L. Miller, William W. Seeley, Adam L. Boxer, 2011, Neuron.

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

I. Mackenzie, M. Neumann, Rosa Rademakers, 2010, The Lancet Neurology.