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内部出版物
CNKI学位论文(93)
知网期刊论文(27)
在“
SpringerLink电子期刊
”中,
命中:
16
条,耗时:小于0.01 秒
在所有数据库中总计命中:
120
条
1.
The hnRNP family: insights into their role in health and disease
作者:
Thomas Geuens
;
Delphine Bouhy
;
Vincent
Timmerman
刊名:Human Genetics
出版年:2016
2.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
作者:
Maria Schabhüttl (1)
Thomas Wieland (2)
Jan Senderek (3)
Jonathan Baets (4) (5) (6)
Vincent
Timmerman
(5) (7)
Peter De Jonghe (4) (5) (6)
Mary M. Reilly (8)
Karl Stieglbauer (9)
Eva Laich (10)
Reinhard Windhager (1)
Wolfgang Erwa (11)
Slave Trajanoski (12)
Tim M. Strom (13) (2)
Michaela Auer-Grumbach (1)
关键词:
IPN
;
CMT
;
dHMN
;
HMSN
;
WES
刊名:Journal of Neurology
出版年:2014
3.
Charcot–Marie–Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
作者:
Anne Holmgren (1) (2)
Delphine Bouhy (1) (2)
Vicky De Winter (1) (2)
Bob Asselbergh (1) (2)
Jean-Pierre
Timmerman
s (3)
Joy Irobi (1) (2)
Vincent
Timmerman (1) (2) (4)
关键词:
Charcot–Marie–Tooth disease
;
Peripheral neuropathy
;
Small heat shock protein
;
Neurofilaments
;
Cyclin
;
dependent kinase
刊名:Acta Neuropathologica
出版年:2013
4.
Acute injury in the peripheral nervous system triggers an alternative macrophage response
作者:
Elke Ydens (1)
Anje Cauwels (2) (3)
Bob Asselbergh (1)
Sofie Goethals (1)
Lieve Peeraer (1)
Guillaume Lornet (3) (4)
Leonardo Almeida-Souza (1)
Jo A Van Ginderachter (5) (6)
Vincent
Timmerman
(1)
Sophie Janssens (3) (4)
关键词:
Innate immune system
;
Negative regulation
;
M2
;
RT
;
qPCR
;
Neuroprotection
;
Wallerian degeneration
刊名:Journal of Neuroinflammation
出版年:2012
5.
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated
作者:
Thorsten Hornemann
;
Anke Penno
;
Stephane Richard
;
Garth Nicholson
;
Fleur S. van Dijk
;
Annelies Rotthier
;
Vincent
Timmerman
and Arnold von Eckardstein
关键词:
HSAN I
;
Peripheral neuropathy
;
SPTLC
;
Serine palmitoyltransferase
;
Sphingolipid
;
Ceramide
刊名:neurogenetics
出版年:2009
6.
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
作者:
Sara Sebnem Kilic
;
Rifatcan Ozturk
;
Bartu Sarisozen
;
Annelies Rotthier
;
Jonathan Baets and
Vincent
Timmerman
关键词:
Hereditary sensory and autonomic neuropathy
;
Insensitivity to pain
;
Hip dislocation
;
Immunodeficiency
;
Hypogammaglobulinemia
刊名:neurogenetics
出版年:2009
7.
Unraveling the genetics of distal hereditary motor neuronopathies
作者:
Joy Irobi (1) (2)
Ines Dierick (1) (2)
Albena Jordanova (1) (3)
Kristl G. Clayes (2) (4) (5)
Peter De Jonghe (2) (4) (5)
Vincent
Timmerman
(1) (2)
关键词:
Distal/Proximal HMN
;
motor neuron diseases
;
PNS specificity
;
ubiquitous processes
;
SMN1
;
HSPB1
;
HSPB8
;
GARS
;
BSCL2
;
IGHMBP2
;
DNCT1
;
SETX
刊名:NeuroMolecular Medicine
出版年:2006
8.
Genetics of motor neuron disease
作者:
Ludo Van Den Bosch PhD (1)
Vincent
Timmerman
PhD
刊名:Current Neurology and Neuroscience Reports
出版年:2006
9.
Molecular genetics, biology, and therapy for inherited peripheral neuropathies
作者:
Vincent
Timmerman
(1) (2)
James R. Lupski (3)
Peter De Jonghe (2) (4) (5)
刊名:NeuroMolecular Medicine
出版年:2006
10.
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies
作者:
Koen Venken
;
Emilio Di Maria
;
Emilia Bellone
;
Piercesare Balestra
;
Denise Cassandrini
;
Paola Mandich
;
Peter De Jonghe
;
Vincent
Timmerman
and John Svaren
关键词:
EGR2 NAB1 NAB2 Peripheral neuropathies
刊名:neurogenetics
出版年:2002
1
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