(Q21202863)

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Spinal muscular atrophy

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scholarly article

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25 April 2019

Spinal muscular atrophy (English)

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spinal muscular atrophies

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25 April 2019

muscular atrophy

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Eugenio Mercuri

2

object named as

Eugenio Mercuri

author given names

Eugenio

author last names

Mercuri

1 reference

Dimensions Publication ID

18 August 2022

1

object named as

Adele D'Amico

author given names

Adele

author last names

D'Amico

1 reference

Dimensions Publication ID

18 August 2022

4

object named as

Enrico Bertini

author given names

Enrico

author last names

Bertini

1 reference

Dimensions Publication ID

18 August 2022

author name string

Francesco D Tiziano

3

author given names

Francesco D

author last names

Tiziano

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

2 November 2011

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25 April 2019

Orphanet Journal of Rare Diseases

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25 April 2019

6

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71

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1

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

25 April 2019

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-71

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Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Profilin II is alternatively spliced, resulting in profilin isoforms that are differentially expressed and have distinct biochemical properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Cardiac defects contribute to the pathology of spinal muscular atrophy models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Phase II open label study of valproic acid in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Feeding problems and malnutrition in spinal muscular atrophy type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

19 March 2017

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

6 April 2017

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

7 April 2017

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

7 April 2017

Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Prospects for the gene therapy of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Spinal muscular atrophy: mechanisms and therapeutic strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Multiple roles of HDAC inhibition in neurodegenerative conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Dual growing rod technique for the treatment of progressive early-onset scoliosis: a multicenter study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Patterns and predictors of sleep disordered breathing in primary myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Spinal muscular atrophy variant with congenital fractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

12 September 2017

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

27 September 2017

Refined characterization of the expression and stability of the SMN gene products.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

27 September 2017

Recovery from paralysis in adult rats using embryonic stem cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

27 September 2017

Prenatal onset spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

27 September 2017

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

27 September 2017

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

30 May 2018

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

30 May 2018

Severe spinal muscular atrophy variant associated with congenital bone fractures.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Low bone mineral density in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Sleep disordered breathing in spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

21 January 2018

Valproic acid treatment in six patients with spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3231874

29 November 2018

Differential SMN2 expression associated with SMA severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone mineral density in a paediatric spinal muscular atrophy population

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Animal models of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn and carrier screening for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22047105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seize the day: Newborn screening for SMA

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-71

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1186/1750-1172-6-71

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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