(Q38224878)

31 August 2017

title

A rising titan: TTN review and mutation update (English)

1 reference

31 August 2017

Claire Chauveau

1

1 reference

31 August 2017

John Rowell

series ordinal

2

1 reference

31 August 2017

Ana Ferreiro

series ordinal

3

1 reference

31 August 2017

publication date

21 July 2014

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31 August 2017

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31 August 2017

volume

35

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31 August 2017

issue

9

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31 August 2017

page(s)

1046-1059

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The M-band: an elastic web that crosslinks thick filaments in the center of the sarcomere

31 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Association of the chaperone alphaB-crystallin with titin in heart muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Smooth muscle titin Zq domain interaction with the smooth muscle alpha-actinin central rod

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The genetics of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Smyd2 controls cytoplasmic lysine methylation of Hsp90 and myofilament organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Atypical phenotypes in titinopathies explained by second titin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin in insect spermatocyte spindle fibers associates with microtubules, actin, myosin and the matrix proteins skeletor, megator and chromator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Bin1 SRC homology 3 domain acts as a scaffold for myofiber sarcomere assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Genetic therapeutic approaches for Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Mechanisms of disease: hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Phosphorylation of titin modulates passive stiffness of cardiac muscle in a titin isoform-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Ischemia-induced association of the stress protein alpha B-crystallin with I-band portion of cardiac titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Passive tension in cardiac muscle: contribution of collagen, titin, microtubules, and intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Single-molecule force spectroscopy reveals a stepwise unfolding of Caenorhabditis elegans giant protein kinase domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Patterns of somatic mutation in human cancer genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin diversity--alternative splicing gone wild

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Modular motif, structural folds and affinity profiles of the PEVK segment of human fetal skeletal muscle titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Overshooting production of satellite cells in murine skeletal muscle affected by the mutation "muscular dystrophy with myositis" (mdm, Chr 2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Studies of the interaction between titin and myosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin mutations as the molecular basis for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Smitin, a novel smooth muscle titin-like protein, interacts with myosin filaments in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Muscle giants: molecular scaffolds in sarcomerogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Protein kinase G modulates human myocardial passive stiffness by phosphorylation of the titin springs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A regular pattern of two types of 100-residue motif in the sequence of titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titins: giant proteins in charge of muscle ultrastructure and elasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The kinase domain of titin controls muscle gene expression and protein turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Gigantic business: titin properties and function through thick and thin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Actin-titin interaction in cardiac myofibrils: probing a physiological role

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

D-Titin: a giant protein with dual roles in chromosomes and muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Structural basis for activation of the titin kinase domain during myofibrillogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Structure of giant muscle proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A targeted deletion of the C-terminal end of titin, including the titin kinase domain, impairs myofibrillogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The Muscle Ankyrin Repeat Proteins: CARP, ankrd2/Arpp and DARP as a Family of Titin Filament-based Stress Response Molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Molecular determinants for the recruitment of the ubiquitin-ligase MuRF-1 onto M-line titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Differential actin binding along the PEVK domain of skeletal muscle titin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOH-terminal, immunoglobulin C2 motif.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Tuning passive mechanics through differential splicing of titin during skeletal muscle development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Hereditary myopathy with early respiratory failure: occurrence in various populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin mutation in familial restrictive cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin mutation segregates with hereditary myopathy with early respiratory failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Calpain 1-titin interactions concentrate calpain 1 in the Z-band edges and in the N2-line region within the skeletal myofibril.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Centronuclear myopathies: a widening concept

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

The zebrafish runzel muscular dystrophy is linked to the titin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin and nebulin: protein rulers in muscle?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin: a molecular control freak

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Extensibility of isoforms of cardiac titin: variation in contour length of molecular subsegments provides a basis for cellular passive stiffness diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Distal myopathies--new genetic entities expand diagnostic challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

New titin (connectin) isoforms and their functional role in striated muscles of mammals: facts and suppositions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Regulation of skeletal muscle stiffness and elasticity by titin isoforms: a test of the segmental extension model of resting tension

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Titin-actin interaction in mouse myocardium: passive tension modulation and its regulation by calcium/S100A1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Protein kinase A phosphorylates titin's cardiac-specific N2B domain and reduces passive tension in rat cardiac myocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Muscle atrophy in Titin M-line deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

PEVK Domain of Titin: An Entropic Spring with Actin-Binding Properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

Kinase recognition by calmodulin: modeling the interaction with the autoinhibitory region of human cardiac titin kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Smooth muscle alpha-actinin interaction with smitin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Functional properties of the titin/connectin-associated proteins, the muscle-specific RING finger proteins (MURFs), in striated muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Binding of actin filaments to connectin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Titinopathy in a Canadian family sharing the British founder haplotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Evidence for a direct but sequential binding of titin to tropomyosin and actin filaments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

A novel titin mutation in adult-onset familial dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22611

7 January 2021

Identifiers

DOI

10.1002/HUMU.22611

1 reference

31 August 2017

1 reference