共 5 条
[1]
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
[J].
Di Donato, Ilaria
;
Bianchi, Silvia
;
De Stefano, Nicola
;
Dichgans, Martin
;
Dotti, Maria Teresa
;
Duering, Marco
;
Jouvent, Eric
;
Korczyn, Amos D.
;
Lesnik-Oberstein, Saskia A. J.
;
Malandrini, Alessandro
;
Markus, Hugh S.
;
Pantoni, Leonardo
;
Penco, Silvana
;
Rufa, Alessandra
;
Sinanovic, Osman
;
Stojanov, Dragan
;
Federico, Antonio
.
BMC MEDICINE,
2017, 15

Di Donato, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

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Dichgans, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ LMU, Klinikum Univ Munchen, Inst Stroke & Dementia Res, Munich, Germany
Munich Cluster Syst Neurol SyNergy, Munich, Germany Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Dotti, Maria Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Duering, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ LMU, Klinikum Univ Munchen, Inst Stroke & Dementia Res, Munich, Germany Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

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Korczyn, Amos D.
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Neurol, IL-69978 Ramat Aviv, Israel Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Lesnik-Oberstein, Saskia A. J.
论文数: 0 引用数: 0
h-index: 0
机构:
K5 R Leiden Univ Med Ctr, Dept Clin Genet, POB 9600, NL-2300 RC Leiden, Netherlands Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

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Markus, Hugh S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Clin Neurosci, Stroke Res Grp, Cambridge, England Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Pantoni, Leonardo
论文数: 0 引用数: 0
h-index: 0
机构:
NEUROFARBA Dept, Neurosci Sect, Largo Brambilla 3, I-50134 Florence, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Penco, Silvana
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Niguarda Ca Granda, Dept Lab Med, Med Genet Unit, Milan, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Rufa, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Sinanovic, Osman
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tuzla, Sch Med, Univ Clin Ctr Tuzla, Dept Neurol, Tuzla 75000, Bosnia & Herceg Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Stojanov, Dragan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nis, Fac Med, Bul Dr Zorana Djindjica 81, Nish 18000, Serbia Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy

Federico, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy Univ Siena, Sch Med, Dept Med Surg & Neurosci, Viale Bracci 2, I-53100 Siena, Italy
[2]
The phenotypic spectrum of CADASIL:: Clinical findings in 102 cases
[J].
Dichgans, M
;
Mayer, M
;
Uttner, I
;
Brüning, R
;
Müller-Höcker, J
;
Rungger, G
;
Ebke, M
;
Klockgether, T
;
Gasser, T
.
ANNALS OF NEUROLOGY,
1998, 44 (05)
:731-739

Dichgans, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Mayer, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Uttner, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Brüning, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Müller-Höcker, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Rungger, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Ebke, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Klockgether, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany

Gasser, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany
[3]
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
[J].
Joutel, A
;
Vahedi, K
;
Corpechot, C
;
Troesch, A
;
Chabriat, H
;
Vayssiere, C
;
Cruaud, C
;
Maciazek, J
;
Weissenbach, J
;
Bousser, MG
;
Bach, JF
;
TournierLasserve, E
.
LANCET,
1997, 350 (9090)
:1511-1515

Joutel, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Vahedi, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Corpechot, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Troesch, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Chabriat, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Vayssiere, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Cruaud, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Maciazek, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Weissenbach, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Bousser, MG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

Bach, JF
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE

TournierLasserve, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PARIS 05, INSERM, U25, F-75730 PARIS, FRANCE
[4]
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
[J].
Lee, Hane
;
Deignan, Joshua L.
;
Dorrani, Naghmeh
;
Strom, Samuel P.
;
Kantarci, Sibel
;
Quintero-Rivera, Fabiola
;
Das, Kingshuk
;
Toy, Traci
;
Harry, Bret
;
Yourshaw, Michael
;
Fox, Michelle
;
Fogel, Brent L.
;
Martinez-Agosto, Julian A.
;
Wong, Derek A.
;
Chang, Vivian Y.
;
Shieh, Perry B.
;
Palmer, Christina G. S.
;
Dipple, Katrina M.
;
Grody, Wayne W.
;
Vilain, Eric
;
Nelson, Stanley F.
.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION,
2014, 312 (18)
:1880-1887

Lee, Hane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Deignan, Joshua L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Dorrani, Naghmeh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Strom, Samuel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Kantarci, Sibel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Quintero-Rivera, Fabiola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Das, Kingshuk
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Toy, Traci
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Harry, Bret
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Inst Digital Res & Educ, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Yourshaw, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Fox, Michelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Fogel, Brent L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Martinez-Agosto, Julian A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Wong, Derek A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Chang, Vivian Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Shieh, Perry B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Palmer, Christina G. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Dipple, Katrina M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Vilain, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

Nelson, Stanley F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
[5]
UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
[J].
Sudlow, Cathie
;
Gallacher, John
;
Allen, Naomi
;
Beral, Valerie
;
Burton, Paul
;
Danesh, John
;
Downey, Paul
;
Elliott, Paul
;
Green, Jane
;
Landray, Martin
;
Liu, Bette
;
Matthews, Paul
;
Ong, Giok
;
Pell, Jill
;
Silman, Alan
;
Young, Alan
;
Sprosen, Tim
;
Peakman, Tim
;
Collins, Rory
.
PLOS MEDICINE,
2015, 12 (03)

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Gallacher, John
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Cardiff CF10 3AX, S Glam, Wales Univ Edinburgh, Edinburgh, Midlothian, Scotland

Allen, Naomi
论文数: 0 引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Lancs, England
Univ Oxford, Oxford, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

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Danesh, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

Downey, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, London, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

Elliott, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, London, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

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Liu, Bette
论文数: 0 引用数: 0
h-index: 0
机构:
Univ New S Wales, Sydney, NSW, Australia Univ Edinburgh, Edinburgh, Midlothian, Scotland

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Ong, Giok
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Warwick, Warwick, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

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Young, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Oxford, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

Sprosen, Tim
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Oxford, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

Peakman, Tim
论文数: 0 引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Lancs, England Univ Edinburgh, Edinburgh, Midlothian, Scotland

Collins, Rory
论文数: 0 引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Lancs, England
Univ Oxford, Oxford, England Univ Edinburgh, Edinburgh, Midlothian, Scotland