(Q41694710)

7 October 2017

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder (English)

1 reference

7 October 2017

1 reference

1 reference

24

1 reference

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11 June 2020

Lachlan A Jolly

4

1 reference

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11 June 2020

Damien J Keating

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Michael Harbord

13

1 reference

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11 June 2020

Alison Compton

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Peer Arts

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Joris A Veltman

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

18

Nienke Wieskamp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

17

Michael Kwint

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Raman Kumar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Mark A Corbett

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nicholas J C Smith

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Chuan Tan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Michael D Duffield

7

1 reference

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11 June 2020

Toshihiko Utsumi

8

1 reference

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11 June 2020

Koko Moriya

9

1 reference

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11 June 2020

Katherine R Smith

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kim Abbott

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Joshua A Woenig

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sabine Gijsen

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Melanie Bahlo

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Joseph G Gleeson

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Eric Haan

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Alexander Hoischen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

11 December 2014

1 reference

7 October 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

2000-2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25504045%20AND%20SRC:MED&resulttype=core&format=json

Rare essentials: drugs for rare diseases as essential medicines

11 June 2020

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

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21 January 2018

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Structural and functional analysis of tomosyn identifies domains important in exocytotic regulation

21 January 2018

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21 January 2018

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21 January 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

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Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

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Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

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21 January 2018

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Fifteen formins for an actin filament: a molecular view on the regulation of human formins.

21 January 2018

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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

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Two distinct genes drive expression of seven tomosyn isoforms in the mammalian brain, sharing a conserved structure with a unique variable domain.

21 January 2018

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Regulation of SNAREs by tomosyn and ROCK: implication in extension and retraction of neurites

21 January 2018

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Positional cloning of a type 2 diabetes quantitative trait locus; tomosyn-2, a negative regulator of insulin secretion

21 January 2018

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Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process

21 January 2018

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Friends and foes in synaptic transmission: the role of tomosyn in vesicle priming

21 January 2018

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Tomosyn interacts with the t-SNAREs syntaxin4 and SNAP23 and plays a role in insulin-stimulated GLUT4 translocation

21 January 2018

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Tomosyn is expressed in beta-cells and negatively regulates insulin exocytosis

21 January 2018

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Multiple functional domains are involved in tomosyn regulation of exocytosis.

21 January 2018

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Tomosyn inhibits synaptic vesicle priming in Caenorhabditis elegans

21 January 2018

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Antagonistic regulation of synaptic vesicle priming by Tomosyn and UNC-13.

21 January 2018

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Tomosyn inhibits synaptotagmin-1-mediated step of Ca2+-dependent neurotransmitter release through its N-terminal WD40 repeats.

21 January 2018

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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

21 January 2018

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Novel copy number variants in children with autism and additional developmental anomalies

21 January 2018

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Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

21 January 2018

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INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

21 January 2018

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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

21 January 2018

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Formin proteins of the DAAM subfamily play a role during axon growth.

21 January 2018

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A formin-g role during development and disease

21 January 2018

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Overexpression of FMNL2 is closely related to metastasis of colorectal cancer

21 January 2018

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An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

21 January 2018

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Protein N-myristoylation is required for cellular morphological changes induced by two formin family proteins, FMNL2 and FMNL3.

21 January 2018

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Generating linkage mapping files from Affymetrix SNP chip data

21 January 2018

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Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

21 January 2018

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Estimation of the inbreeding coefficient through use of genomic data

21 January 2018

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

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28-way vertebrate alignment and conservation track in the UCSC Genome Browser

21 January 2018

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Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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CBFA2T3-ZNF652 corepressor complex regulates transcription of the E-box gene HEB.

21 January 2018

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Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis

21 January 2018

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21 January 2018

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