(Q53083642)

http://europepmc.org/abstract/PMC/4236251

11 May 2018

title

Update from the 2013 International Neurofibromatosis Conference. (English)

1 reference

http://europepmc.org/abstract/PMC/4236251

11 May 2018

author

Gareth Evans

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Helen Morrison

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

David H. Gutmann

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

Catherine D Van Raamsdonk

3 June 2020

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Miriam J Smith

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Annette Bakker

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Xandra O. Breakefield

5

object named as

Xandra O Breakefield

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

14

Ludwine Messiaen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Scott R Plotkin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Anne C Albers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Dusica Babovic-Vuksanovic

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jaishri O Blakeley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Courtney M Dunn

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Michael J Fisher

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jan M Friedman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Marco Giovannini

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Michel Kalamarides

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Andrea I McClatchey

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

David B Parkinson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Anat O Stemmer-Rachamimov

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Vincent M Riccardi

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Tena Rosser

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Aaron Schindeler

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

David A Stevenson

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Nicole J Ullrich

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Thijs van der Vaart

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Brian Weiss

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Brigitte C Widemann

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Yuan Zhu

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Alison C Lloyd

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

language of work or name

English

0 references

publication date

24 September 2014

1 reference

http://europepmc.org/abstract/PMC/4236251

11 May 2018

published in

American Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

164A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

2969-2978

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

NF1 is a critical regulator of muscle development and metabolism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Fractional anisotropy of the optic radiations is associated with visual acuity loss in optic pathway gliomas of neurofibromatosis type 1.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Peripheral muscle weakness in RASopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Neurofibromin (Nf1) is required for skeletal muscle development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Neurofibromin regulation of ERK signaling modulates GABA release and learning

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Focal amyotrophy in neurofibromatosis 2

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Epidemiology of neurofibromatosis type 1.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Meningioma progression in mice triggered by Nf2 and Cdkn2ab inactivation

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236251

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36754

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36754

Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25255738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exercise capacity impairment in individuals with neurofibromatosis type 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25255738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25255738

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36754

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25255738%20AND%20SRC:MED&resulttype=core&format=json