Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders (Q28116849)

12

0 references

Kaya Bilguvar

36

0 references

Ahmed Bouhouche

23

Ahmed Bouhouche

1 reference

4 January 2017

Mahmoud Y. Issa

38

0 references

Aslihan Tolun

Aslihan Tolun

37

0 references

Giovanni Stevanin

Giovanni Stevanin

49

0 references

Alexandra Durr

47

Alexandra Durr

1 reference

4 January 2017

52

Joseph G. Gleeson

1 reference

4 January 2017

51

Trey Ideker

1 reference

4 January 2017

4

Matan Hofree

1 reference

4 January 2017

19

Tawfeg Ben-Omran

1 reference

4 January 2017

27

Sylvie Forlani

1 reference

4 January 2017

22

Naima Bouslam

1 reference

4 January 2017

25

Sylvain Hanein

1 reference

4 January 2017

43

Keith K. Vaux

1 reference

4 January 2017

Gaia Novarino

1

1 reference

4 January 2017

Ali G. Fenstermaker

2

1 reference

4 January 2017

Maha S. Zaki

3

1 reference

4 January 2017

Jennifer L. Silhavy

5

1 reference

4 January 2017

Andrew D. Heiberg

6

1 reference

4 January 2017

Mostafa Abdellateef

7

1 reference

4 January 2017

Basak Rosti

8

1 reference

4 January 2017

Eric Scott

9

1 reference

4 January 2017

Lobna Mansour

10

1 reference

4 January 2017

Amira Masri

11

1 reference

4 January 2017

Jumana Y. Al-Aama

13

1 reference

4 January 2017

Ghada M. H. Abdel-Salam

14

1 reference

4 January 2017

Ariana Karminejad

15

1 reference

4 January 2017

Majdi Kara

16

1 reference

4 January 2017

Bulent Kara

17

1 reference

4 January 2017

Bita Bozorgmehri

18

1 reference

4 January 2017

Faezeh Mojahedi

20

1 reference

4 January 2017

Iman Gamal El Din Mahmoud

21

1 reference

4 January 2017

Ali Benomar

24

1 reference

4 January 2017

Laure Raymond

26

1 reference

4 January 2017

Massimo Mascaro

28

1 reference

4 January 2017

Laila Selim

29

1 reference

4 January 2017

Nabil Shehata

30

1 reference

4 January 2017

Nasir Al-Allawi

31

1 reference

4 January 2017

P. S. Bindu

32

1 reference

4 January 2017

Matloob Azam

33

1 reference

4 January 2017

Murat Gunel

34

1 reference

4 January 2017

Ahmet Caglayan

35

1 reference

4 January 2017

Jana Schroth

39

1 reference

4 January 2017

Emily G. Spencer

40

1 reference

4 January 2017

Rasim O. Rosti

41

1 reference

4 January 2017

Naiara Akizu

42

1 reference

4 January 2017

Anide Johansen

44

1 reference

4 January 2017

Alice A. Koh

45

1 reference

4 January 2017

Hisham Megahed

46

1 reference

4 January 2017

Stacy B. Gabriel

SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis

50

1 reference

4 January 2017

language of work or name

English

0 references

publication date

31 January 2014

1 reference

4 January 2017

1 reference

4 January 2017

343

1 reference

4 January 2017

6170

1 reference

4 January 2017

506–511

1 reference

4 January 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

UAF1 is a subunit of multiple deubiquitinating enzyme complexes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

A class of membrane proteins shaping the tubular endoplasmic reticulum

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Regulation of endocytic sorting by ESCRT-DUB-mediated deubiquitination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Associating genes and protein complexes with disease via network propagation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

iRefIndex: a consolidated protein interaction database with provenance

20 March 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1247363

A framework for variation discovery and genotyping using next-generation DNA sequencing data

22 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

22 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Metabolic disorders of purine metabolism affecting the nervous system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Cellular pathways of hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Purine nucleosides: endogenous neuroprotectants in hypoxic brain.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Clan genomics and the complex architecture of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

The AAA ATPase spastin links microtubule severing to membrane modelling.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Bicaudal-D binds clathrin heavy chain to promote its transport and augments synaptic vesicle recycling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Herpesviral protein targets a cellular WD repeat endosomal protein to downregulate T lymphocyte receptor expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

HomozygosityMapper--an interactive approach to homozygosity mapping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157572

Algorithms for detecting significantly mutated pathways in cancer.

2 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Exome sequencing can improve diagnosis and alter patient management

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

ConsensusPathDB--a database for integrating human functional interaction networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

An experimental investigation of kernels on graphs for collaborative recommendation and semisupervised classification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Fewer permutations, more accurate P-values

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Adaptive linear step-up procedures that control the false discovery rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1247363

Tomacula in MAG-deficient mice

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24482476

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24482476

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1247363

1 reference

1425517

1425517

1 reference

1 reference

1 reference