(Q34560899)

3 August 2017

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect (English)

1 reference

Glutamine--fructose-6-phosphate transaminase 1

3 August 2017

1 reference

GOA release 2020-03-11

author

Hossein Najmabadi

20

1 reference

3 August 2017

Shahriar Nafissi

16

0 references

Carmelo Rodolico

Carmelo Rodolico

21

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Juan J. Vílchez

Juan J Vilchez

12

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Janbernd Kirschner

Janbernd Kirschner

26

0 references

Jan Senderek

Jan Senderek

1

0 references

Benedikt Schoser

Benedikt Schoser

25

0 references

Hanns Lochmüller

Hanns Lochmüller

39

0 references

Volker Straub

36

Volker Straub

1 reference

3 August 2017

34

Jacqueline Palace

1 reference

3 August 2017

38

Angela Abicht

1 reference

3 August 2017

32

Maja von der Hagen

1 reference

3 August 2017

Juliane S Müller

2

1 reference

3 August 2017

Marina Dusl

3

1 reference

3 August 2017

Tim M Strom

4

1 reference

3 August 2017

Velina Guergueltcheva

5

1 reference

3 August 2017

Irmgard Diepolder

6

1 reference

3 August 2017

Steven H Laval

7

1 reference

3 August 2017

Susan Maxwell

8

1 reference

3 August 2017

Judy Cossins

9

1 reference

3 August 2017

Sabine Krause

10

1 reference

3 August 2017

Nuria Muelas

11

1 reference

3 August 2017

Jaume Colomer

13

1 reference

3 August 2017

Cecilia Jimenez Mallebrera

14

1 reference

3 August 2017

Andres Nascimento

15

1 reference

3 August 2017

Ariana Kariminejad

17

1 reference

3 August 2017

Yalda Nilipour

18

1 reference

3 August 2017

Bita Bozorgmehr

19

1 reference

3 August 2017

Jörn P Sieb

22

1 reference

3 August 2017

Ortrud K Steinlein

23

1 reference

3 August 2017

Beate Schlotter

24

1 reference

3 August 2017

Ralf Herrmann

27

1 reference

3 August 2017

Thomas Voit

28

1 reference

3 August 2017

Anders Oldfors

29

1 reference

3 August 2017

Christopher Lindbergh

30

1 reference

3 August 2017

Andoni Urtizberea

31

1 reference

3 August 2017

Angela Hübner

33

1 reference

3 August 2017

Kate Bushby

35

1 reference

3 August 2017

David Beeson

37

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 February 2011

1 reference

American Journal of Human Genetics

3 August 2017

1 reference

3 August 2017

88

1 reference

3 August 2017

162-172

1 reference

3 August 2017

2

1 reference

describes a project that uses

3 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3035713/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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To build a synapse: signaling pathways in neuromuscular junction assembly

7 July 2018

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Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

7 July 2018

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Temporal and spatial requirements of unplugged/MuSK function during zebrafish neuromuscular development

7 July 2018

1 reference

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What have we learned from the congenital myasthenic syndromes

7 July 2018

1 reference

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Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes

7 July 2018

1 reference

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The emerging diversity of neuromuscular junction disorders

7 July 2018

1 reference

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Cycling of O-linked beta-N-acetylglucosamine on nucleocytoplasmic proteins

7 July 2018

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A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

7 July 2018

1 reference

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Role of glycosylation in development

7 July 2018

1 reference

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A simple and sensitive method for glutamine:fructose-6-phosphate amidotransferase assay.

7 July 2018

1 reference

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Glycobiology of the synapse

7 July 2018

1 reference

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

7 July 2018

1 reference

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Induction, assembly, maturation and maintenance of a postsynaptic apparatus

7 July 2018

1 reference

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A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle

7 July 2018

1 reference

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Predicting deleterious amino acid substitutions

7 July 2018

1 reference

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Glycosylation of nucleocytoplasmic proteins: signal transduction and O-GlcNAc

7 July 2018

1 reference

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cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse

7 July 2018

1 reference

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Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

7 July 2018

1 reference

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Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

7 July 2018

1 reference

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An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family

7 July 2018

1 reference

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Parametric and nonparametric linkage analysis: a unified multipoint approach

7 July 2018

1 reference

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Stages of embryonic development of the zebrafish

7 July 2018

1 reference

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Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases

7 July 2018

1 reference

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Familial limb-girdle myasthenia.

7 July 2018

1 reference

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Amino acid difference formula to help explain protein evolution

7 July 2018

1 reference

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Nuclear pore complex glycoproteins contain cytoplasmically disposed O-linked N-acetylglucosamine

7 July 2018

1 reference

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 July 2018

1 reference

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Site-directed mutagenesis by overlap extension using the polymerase chain reaction

7 July 2018

1 reference

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AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity

7 July 2018

1 reference

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Glutamine binding opens the ammonia channel and activates glucosamine-6P synthase

27 October 2018

1 reference

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Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

27 October 2018

1 reference

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Paralytic zebrafish lacking acetylcholine receptors fail to localize rapsyn clusters to the synapse

27 October 2018

1 reference

12 December 2020

The Zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function

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12 December 2020

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

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12 December 2020

Effect of tunicamycin, an inhibitor of protein glycosylation, on the biological properties of acetylcholine receptor in cultured muscle cells

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12 December 2020

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

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12 December 2020

Identification of separate slow and fast muscle precursor cells in vivo, prior to somite formation

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12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

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12 December 2020

10.1016/J.AJHG.2011.01.008

Identifiers

DOI

1 reference

3 August 2017

1 reference

3 August 2017

1 reference