Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Identifieur interne : 002143 ( PubMed/Corpus ); précédent : 002142; suivant : 002144Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Auteurs : Christopher F. Mcnicoll ; Jeanne C. Latourelle ; Marcy E. Macdonald ; Mark F. Lew ; Oksana Suchowersky ; Christine Klein ; Lawrence I. Golbe ; Margery H. Mark ; John H. Growdon ; G Frederick Wooten ; Ray L. Watts ; Mark Guttman ; Brad A. Racette ; Joel S. Perlmutter ; Anwar Ahmed ; Holly A. Shill ; Carlos Singer ; Marie H. Saint-Hilaire ; Tiffany Massood ; Karen W. Huskey ; Anita L. Destefano ; Tammy Gillis ; Jayalakshmi Mysore ; Stefano Goldwurm ; Gianni Pezzoli ; Kenneth B. Baker ; Ilia Itin ; Irene Litvan ; Garth Nicholson ; Alastair Corbett ; Martha Nance ; Edward Drasby ; Stuart Isaacson ; David J. Burn ; Patrick F. Chinnery ; Peter P. Pramstaller ; Jomana Al-Hinti ; Anette T. Moller ; Karen Ostergaard ; Scott J. Sherman ; Richard Roxburgh ; Barry Snow ; John T. Slevin ; Franca Cambi ; James F. Gusella ; Richard H. MyersSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Family Health, Female, Genotype, Humans, Huntington Disease (epidemiology), Huntington Disease (genetics), Male, Middle Aged, Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- epidemiology : Huntington Disease.
- genetics : Huntington Disease, Parkinson Disease, Trinucleotide Repeats.
- physiopathology : Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Family Health, Female, Genotype, Humans, Male, Middle Aged.
Abstract
The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.
DOI: 10.1002/mds.22186
PubMed: 18649400
Links to Exploration step
pubmed:18649400Le document en format XML
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Baker</name></author><author><name sortKey="Itin, Ilia" sort="Itin, Ilia" uniqKey="Itin I" first="Ilia" last="Itin">Ilia Itin</name></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name></author><author><name sortKey="Corbett, Alastair" sort="Corbett, Alastair" uniqKey="Corbett A" first="Alastair" last="Corbett">Alastair Corbett</name></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name></author><author><name sortKey="Drasby, Edward" sort="Drasby, Edward" uniqKey="Drasby E" first="Edward" last="Drasby">Edward Drasby</name></author><author><name sortKey="Isaacson, Stuart" sort="Isaacson, Stuart" uniqKey="Isaacson S" first="Stuart" last="Isaacson">Stuart Isaacson</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name></author><author><name sortKey="Al Hinti, Jomana" sort="Al Hinti, Jomana" uniqKey="Al Hinti J" first="Jomana" last="Al-Hinti">Jomana Al-Hinti</name></author><author><name sortKey="Moller, Anette T" sort="Moller, Anette T" uniqKey="Moller A" first="Anette T" last="Moller">Anette T. Moller</name></author><author><name sortKey="Ostergaard, Karen" sort="Ostergaard, Karen" uniqKey="Ostergaard K" first="Karen" last="Ostergaard">Karen Ostergaard</name></author><author><name sortKey="Sherman, Scott J" sort="Sherman, Scott J" uniqKey="Sherman S" first="Scott J" last="Sherman">Scott J. Sherman</name></author><author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name></author><author><name sortKey="Snow, Barry" sort="Snow, Barry" uniqKey="Snow B" first="Barry" last="Snow">Barry Snow</name></author><author><name sortKey="Slevin, John T" sort="Slevin, John T" uniqKey="Slevin J" first="John T" last="Slevin">John T. Slevin</name></author><author><name sortKey="Cambi, Franca" sort="Cambi, Franca" uniqKey="Cambi F" first="Franca" last="Cambi">Franca Cambi</name></author><author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F" last="Gusella">James F. Gusella</name></author><author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H" last="Myers">Richard H. Myers</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22186</idno><idno type="RBID">pubmed:18649400</idno><idno type="pmid">18649400</idno><idno type="wicri:Area/PubMed/Corpus">002143</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.</title><author><name sortKey="Mcnicoll, Christopher F" sort="Mcnicoll, Christopher F" uniqKey="Mcnicoll C" first="Christopher F" last="Mcnicoll">Christopher F. Mcnicoll</name><affiliation><nlm:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne C" last="Latourelle">Jeanne C. Latourelle</name></author><author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E" last="Macdonald">Marcy E. Macdonald</name></author><author><name sortKey="Lew, Mark F" sort="Lew, Mark F" uniqKey="Lew M" first="Mark F" last="Lew">Mark F. Lew</name></author><author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I" last="Golbe">Lawrence I. Golbe</name></author><author><name sortKey="Mark, Margery H" sort="Mark, Margery H" uniqKey="Mark M" first="Margery H" last="Mark">Margery H. Mark</name></author><author><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H" last="Growdon">John H. Growdon</name></author><author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G Frederick" last="Wooten">G Frederick Wooten</name></author><author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L" last="Watts">Ray L. Watts</name></author><author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name></author><author><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A" last="Racette">Brad A. Racette</name></author><author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S" last="Perlmutter">Joel S. Perlmutter</name></author><author><name sortKey="Ahmed, Anwar" sort="Ahmed, Anwar" uniqKey="Ahmed A" first="Anwar" last="Ahmed">Anwar Ahmed</name></author><author><name sortKey="Shill, Holly A" sort="Shill, Holly A" uniqKey="Shill H" first="Holly A" last="Shill">Holly A. Shill</name></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name></author><author><name sortKey="Saint Hilaire, Marie H" sort="Saint Hilaire, Marie H" uniqKey="Saint Hilaire M" first="Marie H" last="Saint-Hilaire">Marie H. Saint-Hilaire</name></author><author><name sortKey="Massood, Tiffany" sort="Massood, Tiffany" uniqKey="Massood T" first="Tiffany" last="Massood">Tiffany Massood</name></author><author><name sortKey="Huskey, Karen W" sort="Huskey, Karen W" uniqKey="Huskey K" first="Karen W" last="Huskey">Karen W. Huskey</name></author><author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L" last="Destefano">Anita L. Destefano</name></author><author><name sortKey="Gillis, Tammy" sort="Gillis, Tammy" uniqKey="Gillis T" first="Tammy" last="Gillis">Tammy Gillis</name></author><author><name sortKey="Mysore, Jayalakshmi" sort="Mysore, Jayalakshmi" uniqKey="Mysore J" first="Jayalakshmi" last="Mysore">Jayalakshmi Mysore</name></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name></author><author><name sortKey="Baker, Kenneth B" sort="Baker, Kenneth B" uniqKey="Baker K" first="Kenneth B" last="Baker">Kenneth B. Baker</name></author><author><name sortKey="Itin, Ilia" sort="Itin, Ilia" uniqKey="Itin I" first="Ilia" last="Itin">Ilia Itin</name></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name></author><author><name sortKey="Corbett, Alastair" sort="Corbett, Alastair" uniqKey="Corbett A" first="Alastair" last="Corbett">Alastair Corbett</name></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name></author><author><name sortKey="Drasby, Edward" sort="Drasby, Edward" uniqKey="Drasby E" first="Edward" last="Drasby">Edward Drasby</name></author><author><name sortKey="Isaacson, Stuart" sort="Isaacson, Stuart" uniqKey="Isaacson S" first="Stuart" last="Isaacson">Stuart Isaacson</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name></author><author><name sortKey="Al Hinti, Jomana" sort="Al Hinti, Jomana" uniqKey="Al Hinti J" first="Jomana" last="Al-Hinti">Jomana Al-Hinti</name></author><author><name sortKey="Moller, Anette T" sort="Moller, Anette T" uniqKey="Moller A" first="Anette T" last="Moller">Anette T. Moller</name></author><author><name sortKey="Ostergaard, Karen" sort="Ostergaard, Karen" uniqKey="Ostergaard K" first="Karen" last="Ostergaard">Karen Ostergaard</name></author><author><name sortKey="Sherman, Scott J" sort="Sherman, Scott J" uniqKey="Sherman S" first="Scott J" last="Sherman">Scott J. Sherman</name></author><author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name></author><author><name sortKey="Snow, Barry" sort="Snow, Barry" uniqKey="Snow B" first="Barry" last="Snow">Barry Snow</name></author><author><name sortKey="Slevin, John T" sort="Slevin, John T" uniqKey="Slevin J" first="John T" last="Slevin">John T. Slevin</name></author><author><name sortKey="Cambi, Franca" sort="Cambi, Franca" uniqKey="Cambi F" first="Franca" last="Cambi">Franca Cambi</name></author><author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F" last="Gusella">James F. Gusella</name></author><author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H" last="Myers">Richard H. Myers</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Huntington Disease (epidemiology)</term><term>Huntington Disease (genetics)</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Parkinson Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18649400</PMID><DateCreated><Year>2008</Year><Month>10</Month><Day>02</Day></DateCreated><DateCompleted><Year>2009</Year><Month>04</Month><Day>08</Day></DateCompleted><DateRevised><Year>2014</Year><Month>09</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>11</Issue><PubDate><Year>2008</Year><Month>Aug</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.</ArticleTitle><Pagination><MedlinePgn>1596-601</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22186</ELocationID><Abstract><AbstractText>The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>McNicoll</LastName><ForeName>Christopher F</ForeName><Initials>CF</Initials><AffiliationInfo><Affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts 02118, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Latourelle</LastName><ForeName>Jeanne C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>MacDonald</LastName><ForeName>Marcy E</ForeName><Initials>ME</Initials></Author><Author ValidYN="Y"><LastName>Lew</LastName><ForeName>Mark F</ForeName><Initials>MF</Initials></Author><Author ValidYN="Y"><LastName>Suchowersky</LastName><ForeName>Oksana</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Golbe</LastName><ForeName>Lawrence I</ForeName><Initials>LI</Initials></Author><Author ValidYN="Y"><LastName>Mark</LastName><ForeName>Margery H</ForeName><Initials>MH</Initials></Author><Author ValidYN="Y"><LastName>Growdon</LastName><ForeName>John H</ForeName><Initials>JH</Initials></Author><Author ValidYN="Y"><LastName>Wooten</LastName><ForeName>G Frederick</ForeName><Initials>GF</Initials></Author><Author ValidYN="Y"><LastName>Watts</LastName><ForeName>Ray L</ForeName><Initials>RL</Initials></Author><Author ValidYN="Y"><LastName>Guttman</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Racette</LastName><ForeName>Brad A</ForeName><Initials>BA</Initials></Author><Author ValidYN="Y"><LastName>Perlmutter</LastName><ForeName>Joel S</ForeName><Initials>JS</Initials></Author><Author ValidYN="Y"><LastName>Ahmed</LastName><ForeName>Anwar</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Shill</LastName><ForeName>Holly A</ForeName><Initials>HA</Initials></Author><Author ValidYN="Y"><LastName>Singer</LastName><ForeName>Carlos</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Saint-Hilaire</LastName><ForeName>Marie H</ForeName><Initials>MH</Initials></Author><Author ValidYN="Y"><LastName>Massood</LastName><ForeName>Tiffany</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Huskey</LastName><ForeName>Karen W</ForeName><Initials>KW</Initials></Author><Author ValidYN="Y"><LastName>DeStefano</LastName><ForeName>Anita L</ForeName><Initials>AL</Initials></Author><Author ValidYN="Y"><LastName>Gillis</LastName><ForeName>Tammy</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Mysore</LastName><ForeName>Jayalakshmi</ForeName><Initials>J</Initials></Author><Author 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UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS93147</OtherID><OtherID Source="NLM">PMC2655323</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>7</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>4</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>7</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22186</ArticleId><ArticleId 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