Diagnosis, natural history, and management of Charcot–Marie–Tooth disease (Q28111977)

Charcot–Marie–Tooth disease

Europe PubMed Central

title

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease (English)

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main subject

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Davide Pareyson

1

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Chiara Marchesi

series ordinal

2

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publication date

July 2009

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1 reference

8

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page(s)

654-667

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issue

7

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cites work

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Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

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Charcot-Marie-Tooth disease: a clinico-genetic confrontation

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Charcot-Marie-Tooth neuropathies: diagnosis and management.

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7 January 2021

Charcot-Marie-Tooth disease

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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

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7 January 2021

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

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7 January 2021

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

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7 January 2021

Axonal Charcot-Marie-Tooth disease: the fog is only slowly lifting

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7 January 2021

Molecular mechanisms of inherited demyelinating neuropathies

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7 January 2021

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

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7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

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7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

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7 January 2021

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

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7 January 2021

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

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7 January 2021

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

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7 January 2021

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

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7 January 2021

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood

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7 January 2021

Autosomal-recessive Charcot-Marie-Tooth diseases

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7 January 2021

De-novo mutation in hereditary motor and sensory neuropathy type I.

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7 January 2021

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

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7 January 2021

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

1 reference

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7 January 2021

Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

1 reference

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7 January 2021

Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions

1 reference

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7 January 2021

Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

1 reference

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7 January 2021

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

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7 January 2021

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

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7 January 2021

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

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7 January 2021

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

1 reference

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7 January 2021

Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Comparison of CMT1A and CMT2: similarities and differences

1 reference

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7 January 2021

Evolution of foot and ankle manifestations in children with CMT1A

1 reference

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7 January 2021

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1 reference

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7 January 2021

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

1 reference

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7 January 2021

Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with charcot-marie-tooth disease 1A duplication

1 reference

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7 January 2021

Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication

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7 January 2021

Natural history of CMT1A including QoL: A 2-year prospective study

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7 January 2021

Neuropathy progression in Charcot-Marie-Tooth disease type 1A

1 reference

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7 January 2021

Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study

1 reference

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7 January 2021

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

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7 January 2021

Hand involvement in children with Charcot-Marie-Tooth disease type 1A.

1 reference

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7 January 2021

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Phenotypic clustering in MPZ mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Molecular genetics of X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Coexistent hereditary and inflammatory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Reliability and validity of the CMT neuropathy score as a measure of disability.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Hand function in Charcot Marie Tooth: test retest reliability of some measurements.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Treatment for Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Rehabilitation interventions for foot drop in neuromuscular disease

1 reference

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7 January 2021

Therapeutic strategies for the inherited neuropathies.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Experimental therapeutics in hereditary neuropathies: the past, the present, and the future

1 reference

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7 January 2021

Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Resistance training exercise and creatine in patients with Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Muscle strength recovery in treated Guillain-Barré syndrome: a prospective study for the first 18 months after onset

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Response to aerobic exercise training in humans with neuromuscular disease

1 reference

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7 January 2021

Impact of a home-based activity and dietary intervention in people with slowly progressive neuromuscular diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Overwork weakness in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

The hypothesis of overwork weakness in Charcot-Marie-Tooth: a critical evaluation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Effects of dynamic balance training during standing and stepping in patients with hereditary sensory motor neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Effective orthotic therapy for the painful cavus foot: a randomized controlled trial.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Charcot-Marie-Tooth disease and the cavovarus foot

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Scoliosis in patients with Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Neuropathic pain in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Experienced and physiological fatigue in neuromuscular disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease: a case control study.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Obstructive sleep apnoea and CMT1A: answers and more questions.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Animal models of Charcot-Marie-Tooth disease type 1A.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Role of immune cells in animal models for inherited peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]

1 reference

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7 January 2021

136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

From exotic spice to modern drug?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

PTC124, nonsense mutations and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2809%2970110-3

7 January 2021

10.1016/S1474-4422(09)70110-3

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

4734184

4734184

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference