(Q34146017)

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Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice (English)

1 reference

Europe PubMed Central

31 July 2017

haploinsufficiency

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Chris I De Zeeuw

16

object named as

Chris I De Zeeuw

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Europe PubMed Central

31 July 2017

3

object named as

Anna Akhmanova

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Europe PubMed Central

31 July 2017

object named as

Nadja Van Camp

11

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Annemie Van der Linden

object named as

Annemie van der Linden

13

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17

object named as

Niels Galjart

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Europe PubMed Central

31 July 2017

Marleen Verhoye

object named as

Marleen Verhoye

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ORCID Public Data File 2021

author name string

Casper C Hoogenraad

1

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Europe PubMed Central

31 July 2017

Bas Koekkoek

2

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Europe PubMed Central

31 July 2017

Harm Krugers

4

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Europe PubMed Central

31 July 2017

Bjorn Dortland

5

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Europe PubMed Central

31 July 2017

Marja Miedema

6

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Europe PubMed Central

31 July 2017

Arjan van Alphen

7

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Europe PubMed Central

31 July 2017

Werner M Kistler

8

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Europe PubMed Central

31 July 2017

Martine Jaegle

9

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Europe PubMed Central

31 July 2017

Manoussos Koutsourakis

10

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31 July 2017

Irina Kaverina

14

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Europe PubMed Central

31 July 2017

Frank Grosveld

15

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31 July 2017

language of work or name

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publication date

26 August 2002

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Europe PubMed Central

31 July 2017

Nature Genetics

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Europe PubMed Central

31 July 2017

32

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31 July 2017

116-127

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31 July 2017

1

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Europe PubMed Central

31 July 2017

https://scigraph.springernature.com/pub.10.1038/ng954

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Natural history of Williams syndrome: physical characteristics

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Williams-Beuren syndrome: genes and mechanisms

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Microtubule "plus-end-tracking proteins": The end is just the beginning

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https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

CLIP-170 highlights growing microtubule ends in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

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Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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CLIP170-like tip1p spatially organizes microtubular dynamics in fission yeast

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Role of dynactin in endocytic traffic: effects of dynamitin overexpression and colocalization with CLIP-170

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

LIS1, CLIP-170's key to the dynein/dynactin pathway

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

The anatomy of the cerebellum.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

Statural growth in Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Deficient long-term memory in mice with a targeted mutation of the cAMP-responsive element-binding protein.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Modality-specific retrograde amnesia of fear

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Differential contribution of amygdala and hippocampus to cued and contextual fear conditioning

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Supraspinal contributions to the initiation and control of locomotion in the cat.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Expression of a protein kinase C inhibitor in Purkinje cells blocks cerebellar LTD and adaptation of the vestibulo-ocular reflex.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

Microcircuitry and function of the inferior olive.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Mutant Mice and Neuroscience: Recommendations Concerning Genetic Background

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Behavior and mutagenesis screens: the importance of baseline analysis of inbred strains.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

LIS1: cellular function of a disease-causing gene

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

The POU factor Oct-6 and Schwann cell differentiation

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Three-dimensional fast spin-echo imaging: pulse sequence and in vivo image evaluation

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Watershed-based segmentation of 3D MR data for volume quantization

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Impaired cerebellar long-term potentiation in type I adenylyl cyclase mutant mice

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Computer-assisted behavioral assessment of Pavlovian fear conditioning in mice

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Elevated anxiety and antidepressant-like responses in serotonin 5-HT1A receptor mutant mice

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Altered synaptic plasticity in hippocampal CA1 area of apolipoprotein E deficient mice.

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

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Microtubule targeting of substrate contacts promotes their relaxation and dissociation

1 reference

https://api.crossref.org/works/10.1038%2FNG954

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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