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SpringerLink电子期刊(45)
在“
SpringerLink电子期刊
”中,
命中:
45
条,耗时:小于0.01 秒
在所有数据库中总计命中:
45
条
1.
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia
作者:
Matt Baker (1)
Audrey J. Strongosky (2)
Monica Y. Sanchez-Contreras (1)
Shan Yang (3)
Will Ferguson (3)
Donald B. Calne (4)
Susan Calne (4)
A. Jon Stoessl (4)
Judith E. Allanson (5)
Daniel F. Broderick (6)
Michael L. Hutton (1) (7)
Dennis W. Dickson (1)
Owen A. Ross (1)
Zbigniew K.
Wszolek
(2)
Rosa Rademakers (1)
关键词:
Basal ganglia calcification
;
Dystonia
;
SLC20A2
;
THAP1
;
Genomic deletion
;
Mutation
刊名:neurogenetics
出版年:2014
2.
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene
作者:
Marka van Blitterswijk (1)
Bianca Mullen (1)
Aleksandra Wojtas (1)
Michael G Heckman (2)
Nancy N Diehl (2)
Matthew C Baker (1)
Mariely DeJesus-Hernandez (1)
Patricia H Brown (1)
Melissa E Murray (1)
Ging-Yuek R Hsiung (3)
Heather Stewart (3)
Anna M Karydas (4)
Elizabeth Finger (5)
Andrew Kertesz (5)
Eileen H Bigio (6)
Sandra Weintraub (6)
Marsel Mesulam (6)
Kimmo J Hatanpaa (7)
Charles L White III (7)
Manuela Neumann (8)
Michael J Strong (9)
Thomas G Beach (10)
Zbigniew K
Wszolek
(11)
Carol Lippa (12)
Richard Caselli (13)
Leonard Petrucelli (1)
Keith A Josephs (14)
Joseph E Parisi (14)
David S Knopman (14)
Ronald C Petersen (14)
Ian R Mackenzie (15)
William W Seeley (4)
Lea T Grinberg (4)
Bruce L Miller (4)
Kevin B Boylan (11)
Neill R Graff-Radford (11)
Bradley F Boeve (14)
Dennis W Dickson (1)
Rosa Rademakers (1)
1. Department of Neuroscience
;
Mayo Clinic
;
4500 San Pablo Road
;
Jacksonville
;
FL
;
32224
;
USA
2. Section of Biostatistics
;
Mayo Clinic
;
4500 San Pablo Road
;
Jacksonville
;
FL
;
32224
;
USA
3. Division of Neurology
;
University of British Columbia
;
2211 Wesbrook Mall
;
Vancouver
;
BC
;
V6T 2B5
;
Canada
4. Department of Neurology
;
University of California
;
500 Parnassus Ave
;
San Francisco
;
CA
;
94143
;
USA
5. The University of Western Ontario
;
1151 Richmond St
;
London
;
ON
;
N6A 3 K7
;
Canada
6. Cognitive Neurology and Alzheimer鈥檚 Disease Center
;
Northwestern University Feinberg School of Medicine
;
320 East Superior Street
;
Chicago
;
IL
;
60611
;
USA
7. University of Texas Southwestern Medical Center
;
5323 Harry Hines Blvd
;
Dallas
;
TX
;
75390
;
USA
8. Department of Neuropathology
;
University of T眉bingen and German Center for Neurodegenerative Diseases
;
Calwerstr. 3
;
T眉bingen
;
72076
;
Germany
9. Molecular Brain Research Group
;
Robarts Research Institute
;
100 Perth Drive
;
London
;
ON
;
N6A 5 K8
;
Canada
10. Banner Sun Health Research Institute
;
10515 W Santa Fe Dr
;
Sun City
;
AZ
;
85351
;
USA
11. Department of Neurology
;
Mayo Clinic
;
4500 San Pablo Road
;
Jacksonville
;
FL
;
32224
;
USA
12. Department of Neurology
;
Drexel University College of Medicine
;
2900 W Queen Ln
;
Philadelphia
;
PA
;
19129
;
USA
13. Department of Neurology
;
Mayo Clinic
;
5777 E Mayo Blvd
;
Phoenix
;
AZ
;
85054
;
USA
14. Department of Neurology
;
Mayo Clinic
;
1216 2nd St SW
;
Rochester
;
MN
;
55902
;
USA
15. Department of Pathology and Laboratory Medicine
;
University of British Columbia
;
2329W Mall
;
Vancouver
;
BC
;
V6T 1Z4
;
Canada
关键词:
C9ORF72
;
Frontotemporal dementia
;
Motor neuron disease
;
Genetic modifier
;
Repeat expansion
刊名:Molecular Neurodegeneration
出版年:2014
3.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
作者:
Marka van Blitterswijk (1)
Bianca Mullen (1)
Alexandra M. Nicholson (1)
Kevin F. Bieniek (1)
Michael G. Heckman (2)
Matthew C. Baker (1)
Mariely DeJesus-Hernandez (1)
NiCole A. Finch (1)
Patricia H. Brown (1)
Melissa E. Murray (1)
Ging-Yuek R. Hsiung (3)
Heather Stewart (3)
Anna M. Karydas (4)
Elizabeth Finger (5)
Andrew Kertesz (5)
Eileen H. Bigio (6)
Sandra Weintraub (6)
Marsel Mesulam (6)
Kimmo J. Hatanpaa (7)
Charles L. White III (7)
Michael J. Strong (8)
Thomas G. Beach (9)
Zbigniew K.
Wszolek
(10)
Carol Lippa (11)
Richard Caselli (12)
Leonard Petrucelli (1)
Keith A. Josephs (13)
Joseph E. Parisi (13)
David S. Knopman (13)
Ronald C. Petersen (13)
Ian R. Mackenzie (14)
William W. Seeley (4)
Lea T. Grinberg (4)
Bruce L. Miller (4)
Kevin B. Boylan (10)
Neill R. Graff-Radford (10)
Bradley F. Boeve (13)
Dennis W. Dickson (1)
Rosa Rademakers (1)
关键词:
C9ORF72
;
TMEM106B
;
Frontotemporal dementia
;
Motor neuron disease
;
Amyotrophic lateral sclerosis
;
Disease modifier
刊名:Acta Neuropathologica
出版年:2014
4.
Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration
作者:
Naomi Kouri (1) (2)
Yari Carlomagno (1)
Matthew Baker (1)
Amanda M. Liesinger (1)
Richard J. Caselli (3)
Zbigniew K.
Wszolek
(4)
Leonard Petrucelli (1)
Bradley F. Boeve (5)
Joseph E. Parisi (6)
Keith A. Josephs (5)
Ryan J. Uitti (4)
Owen A. Ross (1)
Neill R. Graff-Radford (4)
Michael A. DeTure (1)
Dennis W. Dickson (1)
Rosa Rademakers (1)
关键词:
Corticobasal degeneration
;
Progressive supranuclear palsy
;
Tauopathy
;
Microtubule
;
associated protein tau
;
TDP
;
43
;
MAPT mutations
刊名:Acta Neuropathologica
出版年:2014
5.
Abnormal daytime sleepiness in dementia with Lewy bodies compared to Alzheimer’s disease using the Multiple Sleep Latency Test
作者:
Tanis J Ferman (1)
Glenn E Smith (2)
Dennis W Dickson (3)
Neill R Graff-Radford (4)
Siong-Chi Lin (5)
Zbigniew
Wszolek
(4)
Jay A Van Gerpen (4)
Ryan Uitti (4)
David S Knopman (6)
Ronald C Petersen (6)
Joseph E Parisi (7)
Michael H Silber (8)
Bradley F Boeve (6) (8)
刊名:Alzheimer's Research & Therapy
出版年:2014
6.
Latin America’s first case of Perry syndrome and a new treatment option for respiratory insufficiency
作者:
Felipe Pretelt (1)
Camilo Casta?eda Cardona (1)
Pawel Tacik (2)
Owen A. Ross (3)
Zbigniew K.
Wszolek
(2)
刊名:Journal of Neurology
出版年:2014
7.
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
作者:
Shinsuke Fujioka (1)
Christina Sundal (1)
Audrey J. Strongosky (1)
Monica Case Castanedes (2)
Rosa Rademakers (2)
Owen A. Ross (2)
Carles Vilari?o-Güell (3)
Matthew J. Farrer (3)
Zbigniew K.
Wszolek
(1)
Dennis W. Dickson (2) (4)
关键词:
APOE
;
Dementia with Lewy bodies
;
Diffuse Lewy body disease
;
EIF4G1
;
Parkinsonism
;
α
;
Synuclein
;
Tau
刊名:Acta Neuropathologica
出版年:2013
8.
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
作者:
Shinsuke Fujioka (1)
Christina Sundal (1) (2)
Zbigniew K
Wszolek
(1)
关键词:
SCA5
;
SCA6
;
SCA11
;
SCA26
;
SCA30
;
SCA31
;
SPTBN2
;
CACNA1A
;
TTBK2
;
BEAN
刊名:Orphanet Journal of Rare Diseases
出版年:2013
9.
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease
作者:
Sruti Rayaprolu (1)
Bianca Mullen (1)
Matt Baker (1)
Timothy Lynch (2)
Elizabeth Finger (3)
William W Seeley (4)
Kimmo J Hatanpaa (5)
Catherine Lomen-Hoerth (4)
Andrew Kertesz (3)
Eileen H Bigio (6)
Carol Lippa (7)
Keith A Josephs (8)
David S Knopman (8)
Charles L White III (5)
Richard Caselli (9)
Ian R Mackenzie (10)
Bruce L Miller (4)
Magdalena Boczarska-Jedynak (11)
Grzegorz Opala (11)
Anna Krygowska-Wajs (12)
Maria Barcikowska (13)
Steven G Younkin (1)
Ronald C Petersen (8)
Nilüfer Ertekin-Taner (1) (14)
Ryan J Uitti (14)
James F Meschia (14)
Kevin B Boylan (14)
Bradley F Boeve (8)
Neill R Graff-Radford (14)
Zbigniew K
Wszolek
(14)
Dennis W Dickson (1)
Rosa Rademakers (1)
Owen A Ross (1)
关键词:
TREM2
;
Frontotemporal dementia
;
Parkinson disease
;
Genetic association
刊名:Molecular Neurodegeneration
出版年:2013
10.
An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications
作者:
Shinsuke Fujioka (1)
Daniel F. Broderick (2)
Christina Sundal (1) (4)
Matthew C. Baker (3)
Rosa Rademakers (3)
Zbigniew K.
Wszolek
(1)
刊名:Journal of Neurology
出版年:2013
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按检索点细分(45)
作者(45)
按出版年细分(45)
2014年(6)
2013年(4)
2012年(3)
2011年(3)
2009年(4)
2008年(5)
2007年(4)
2006年(4)
2005年(8)
2002年(2)
2001年(2)
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