(Q37010412)

English

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

scientific article published on 03 July 2013

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability (English)

1 reference

Europe PubMed Central

17 August 2017

0 references

muscular dystrophy

1 reference

based on heuristic

inferred from title

Gudrun Nürnberg

21

object named as

Gudrun Nürnberg

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Robert A. Hegele

11

object named as

Robert A Hegele

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Jessica X. Chong

object named as

Jessica X Chong

3

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Benedikt Schoser

object named as

Benedikt Schoser

27

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Peter Nürnberg

28

object named as

Peter Nürnberg

1 reference

Europe PubMed Central

17 August 2017

26

object named as

Kym M Boycott

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29

object named as

Carole Ober

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32

object named as

Bernd Wollnik

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Europe PubMed Central

17 August 2017

Janine Altmüller

25

object named as

Janine Altmüller

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23

object named as

Holger Thiele

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A. Micheil Innes

18

object named as

A Micheil Innes

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17 August 2017

Jillian S Parboosingh

31

object named as

Jillian S Parboosingh

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17 August 2017

François P. Bernier

7

object named as

Francois P Bernier

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17 August 2017

author name string

Nina Bögershausen

1

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17 August 2017

Nassim Shahrzad

2

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17 August 2017

Jürgen-Christoph von Kleist-Retzow

4

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17 August 2017

Daniela Stanga

5

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17 August 2017

Yun Li

6

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Catrina M Loucks

8

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17 August 2017

Radu Wirth

9

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Eric G Puffenberger

10

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Julia Schreml

12

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17 August 2017

Gabriel Lapointe

13

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Katharina Keupp

14

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17 August 2017

Christopher L Brett

15

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17 August 2017

Rebecca Anderson

16

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17 August 2017

Andreas Hahn

17

1 reference

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17 August 2017

Oksana Suchowersky

19

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Marilyn B Mets

20

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D Ross McLeod

22

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Darrel Waggoner

24

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Raoul Heller

30

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17 August 2017

Michael Sacher

33

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17 August 2017

Ryan E Lamont

34

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17 August 2017

language of work or name

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publication date

3 July 2013

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Europe PubMed Central

17 August 2017

American Journal of Human Genetics

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Europe PubMed Central

17 August 2017

93

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Europe PubMed Central

17 August 2017

181-190

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17 August 2017

1

1 reference

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17 August 2017

A systematic mammalian genetic interaction map reveals pathways underlying ricin susceptibility

1 reference

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29 September 2017

The ever-expanding spectrum of congenital muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Childhood onset of limb-girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Endo-lysosomal vesicles positive for Rab7 and LAMP1 are terminal vesicles for the transport of dextran

1 reference

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29 September 2017

Genetic and epigenetic networks in intellectual disabilities.

1 reference

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29 September 2017

The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Genome-wide RNAi screens identify genes required for Ricin and PE intoxications.

1 reference

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29 September 2017

C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

The genetic basis of non-syndromic intellectual disability: a review

1 reference

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29 September 2017

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway

1 reference

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29 September 2017

Diagnosis and management of the limb girdle muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

The architecture of the multisubunit TRAPP I complex suggests a model for vesicle tethering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Ophthalmic manifestations of Danon disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Identification of zebrafish insertional mutants with defects in visual system development and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Rab9 GTPase regulates late endosome size and requires effector interaction for its stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Late endosome motility depends on lipids via the small GTPase Rab7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Allegro, a new computer program for multipoint linkage analysis

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29 September 2017

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

1 reference

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29 September 2017

Kinetic analysis of secretory protein traffic and characterization of golgi to plasma membrane transport intermediates in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

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29 September 2017

TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Immunoelectron microscopic studies of the intracellular transport of the membrane glycoprotein (G) of vesicular stomatitis virus in infected Chinese hamster ovary cells

1 reference

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29 September 2017

History and relevance of the Hutterite population for genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Multiple sequence alignment with hierarchical clustering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

29 September 2017

Public policy and outcomes for persons with intellectual disability: extending and expanding the public policy framework of AAIDD's 11th Edition of Intellectual Disability: Definition, Classification, and Systems of Support.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

4 September 2018

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

4 September 2018

A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

4 September 2018

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710757

4 September 2018

Natural history of Danon disease

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https://pubmed.ncbi.nlm.nih.gov/23830518

12 December 2020

based on heuristic

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GRR: graphical representation of relationship errors

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830518

12 December 2020

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HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.05.028

1 reference

Europe PubMed Central

17 August 2017

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Europe PubMed Central

17 August 2017

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Europe PubMed Central

17 August 2017

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