Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.
Identifieur interne : 001F36 ( PubMed/Curation ); précédent : 001F35; suivant : 001F37Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.
Auteurs : Jason P. Covy [États-Unis] ; Wuxing Yuan ; Elisa A. Waxman ; Howard I. Hurtig ; Vivianna M. Van Deerlin ; Benoit I. GiassonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Aged, Amino Acid Sequence, Cohort Studies, DNA Mutational Analysis, Female, Genes, Dominant, Hippocampus (pathology), Humans, Inclusion Bodies (chemistry), Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Neurofibrillary Tangles, Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson Disease (psychology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonian Disorders (psychology), Phosphorylation, Phosphoserine (analysis), Point Mutation, Protein Processing, Post-Translational, Protein-Serine-Threonine Kinases (chemistry), Protein-Serine-Threonine Kinases (genetics), Protein-Serine-Threonine Kinases (physiology), Sequence Alignment, Sequence Homology, Amino Acid, Temporal Lobe (pathology), alpha-Synuclein (analysis).
- MESH :
- chemical , analysis : Phosphoserine, alpha-Synuclein.
- chemistry : Inclusion Bodies, Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease, Parkinsonian Disorders, Protein-Serine-Threonine Kinases.
- pathology : Hippocampus, Parkinson Disease, Parkinsonian Disorders, Temporal Lobe.
- chemical , physiology : Protein-Serine-Threonine Kinases.
- psychology : Parkinson Disease, Parkinsonian Disorders.
- Aged, Amino Acid Sequence, Cohort Studies, DNA Mutational Analysis, Female, Genes, Dominant, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Neurofibrillary Tangles, Phosphorylation, Point Mutation, Protein Processing, Post-Translational, Sequence Alignment, Sequence Homology, Amino Acid.
Abstract
Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle-predominant dementia. alpha-Synuclein-containing pathological inclusions in these patients also were highly phosphorylated at Ser-129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP-43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations.
DOI: 10.1002/mds.22096
PubMed: 19006185
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001F36
Links to Exploration step
pubmed:19006185Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.</title>
<author><name sortKey="Covy, Jason P" sort="Covy, Jason P" uniqKey="Covy J" first="Jason P" last="Covy">Jason P. Covy</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6084, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6084</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name>
</author>
<author><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A" last="Waxman">Elisa A. Waxman</name>
</author>
<author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I" last="Hurtig">Howard I. Hurtig</name>
</author>
<author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M" last="Van Deerlin">Vivianna M. Van Deerlin</name>
</author>
<author><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I" last="Giasson">Benoit I. Giasson</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2009">2009</date>
<idno type="doi">10.1002/mds.22096</idno>
<idno type="RBID">pubmed:19006185</idno>
<idno type="pmid">19006185</idno>
<idno type="wicri:Area/PubMed/Corpus">001F36</idno>
<idno type="wicri:Area/PubMed/Curation">001F36</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.</title>
<author><name sortKey="Covy, Jason P" sort="Covy, Jason P" uniqKey="Covy J" first="Jason P" last="Covy">Jason P. Covy</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6084, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6084</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name>
</author>
<author><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A" last="Waxman">Elisa A. Waxman</name>
</author>
<author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I" last="Hurtig">Howard I. Hurtig</name>
</author>
<author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M" last="Van Deerlin">Vivianna M. Van Deerlin</name>
</author>
<author><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I" last="Giasson">Benoit I. Giasson</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="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Amino Acid Sequence</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Hippocampus (pathology)</term>
<term>Humans</term>
<term>Inclusion Bodies (chemistry)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense</term>
<term>Neurofibrillary Tangles</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
<term>Parkinson Disease (psychology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonian Disorders (pathology)</term>
<term>Parkinsonian Disorders (psychology)</term>
<term>Phosphorylation</term>
<term>Phosphoserine (analysis)</term>
<term>Point Mutation</term>
<term>Protein Processing, Post-Translational</term>
<term>Protein-Serine-Threonine Kinases (chemistry)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Protein-Serine-Threonine Kinases (physiology)</term>
<term>Sequence Alignment</term>
<term>Sequence Homology, Amino Acid</term>
<term>Temporal Lobe (pathology)</term>
<term>alpha-Synuclein (analysis)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Phosphoserine</term>
<term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Inclusion Bodies</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Parkinsonian Disorders</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Hippocampus</term>
<term>Parkinson Disease</term>
<term>Parkinsonian Disorders</term>
<term>Temporal Lobe</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Amino Acid Sequence</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense</term>
<term>Neurofibrillary Tangles</term>
<term>Phosphorylation</term>
<term>Point Mutation</term>
<term>Protein Processing, Post-Translational</term>
<term>Sequence Alignment</term>
<term>Sequence Homology, Amino Acid</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle-predominant dementia. alpha-Synuclein-containing pathological inclusions in these patients also were highly phosphorylated at Ser-129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP-43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19006185</PMID>
<DateCreated><Year>2009</Year>
<Month>02</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>06</Month>
<Day>04</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>09</Month>
<Day>08</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>24</Volume>
<Issue>1</Issue>
<PubDate><Year>2009</Year>
<Month>Jan</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.</ArticleTitle>
<Pagination><MedlinePgn>32-9</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22096</ELocationID>
<Abstract><AbstractText>Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle-predominant dementia. alpha-Synuclein-containing pathological inclusions in these patients also were highly phosphorylated at Ser-129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP-43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Covy</LastName>
<ForeName>Jason P</ForeName>
<Initials>JP</Initials>
<AffiliationInfo><Affiliation>Department of Pharmacology, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6084, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yuan</LastName>
<ForeName>Wuxing</ForeName>
<Initials>W</Initials>
</Author>
<Author ValidYN="Y"><LastName>Waxman</LastName>
<ForeName>Elisa A</ForeName>
<Initials>EA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hurtig</LastName>
<ForeName>Howard I</ForeName>
<Initials>HI</Initials>
</Author>
<Author ValidYN="Y"><LastName>Van Deerlin</LastName>
<ForeName>Vivianna M</ForeName>
<Initials>VM</Initials>
</Author>
<Author ValidYN="Y"><LastName>Giasson</LastName>
<ForeName>Benoit I</ForeName>
<Initials>BI</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>AG-NS-0331-06</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>AG09215</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>AG17586</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>NS053488</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P01 AG009215</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P01 AG009215-19</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P01 AG009215-190009</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P01 AG017586</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P01 AG017586-09</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 NS053488</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 NS053488-020004</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>17885-08-4</RegistryNumber>
<NameOfSubstance UI="D010768">Phosphoserine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>J Neurosci Res. 2000 Feb 15;59(4):528-33</RefSource>
<PMID Version="1">10679792</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2007 Apr 3;68(14):1141-3</RefSource>
<PMID Version="1">17215492</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Rev Neurosci. 2001 Jul;2(7):492-501</RefSource>
<PMID Version="1">11433374</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Cell Biol. 2002 Feb;4(2):160-4</RefSource>
<PMID Version="1">11813001</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2002 Aug;52(2):205-10</RefSource>
<PMID Version="1">12210791</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurobiol Aging. 2003 Mar-Apr;24(2):197-211</RefSource>
<PMID Version="1">12498954</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2004 May 11;62(9):1619-22</RefSource>
<PMID Version="1">15136696</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):30-3</RefSource>
<PMID Version="1">2010756</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 1996 Mar;55(3):259-72</RefSource>
<PMID Version="1">8786384</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Pathol. 1998 Apr;152(4):879-84</RefSource>
<PMID Version="1">9546347</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 1999 Jan;56(1):33-9</RefSource>
<PMID Version="1">9923759</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Brain. 1999 Aug;122 ( Pt 8):1437-48</RefSource>
<PMID Version="1">10430830</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neuron. 2004 Nov 18;44(4):595-600</RefSource>
<PMID Version="1">15541308</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neuron. 2004 Nov 18;44(4):601-7</RefSource>
<PMID Version="1">15541309</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet. 2005 Jan 29-Feb 4;365(9457):410-2</RefSource>
<PMID Version="1">15680455</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet. 2005 Jan 29-Feb 4;365(9457):412-5</RefSource>
<PMID Version="1">15680456</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Lancet. 2005 Jan 29-Feb 4;365(9457):415-6</RefSource>
<PMID Version="1">15680457</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2005 Apr;76(4):672-80</RefSource>
<PMID Version="1">15726496</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Jun;57(6):918-21</RefSource>
<PMID Version="1">15880653</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Jun;57(6):933-4</RefSource>
<PMID Version="1">15929036</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neuron. 2005 Aug 18;47(4):479-82</RefSource>
<PMID Version="1">16102530</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2005 Sep 13;65(5):696-700</RefSource>
<PMID Version="1">16157901</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2005 Sep 13;65(5):738-40</RefSource>
<PMID Version="1">16157908</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Acta Neurol Scand Suppl. 2007;187:72-5</RefSource>
<PMID Version="1">17419834</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Acta Neuropathol. 2007 May;113(5):601-6</RefSource>
<PMID Version="1">17151837</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2007 Apr 15;22(5):749-50</RefSource>
<PMID Version="1">17290460</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):626-8</RefSource>
<PMID Version="1">17210620</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Acta Neuropathol. 2007 Sep;114(3):221-9</RefSource>
<PMID Version="1">17653732</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Feb 12;70(7):521-7</RefSource>
<PMID Version="1">17914064</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2008 May;67(5):402-16</RefSource>
<PMID Version="1">18451726</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurosci Lett. 2005 Dec 9;389(3):137-9</RefSource>
<PMID Version="1">16102903</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2005 Nov;58(5):784-7</RefSource>
<PMID Version="1">16240353</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Brain. 2005 Dec;128(Pt 12):2786-96</RefSource>
<PMID Version="1">16272164</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Brain. 2005 Dec;128(Pt 12):3000-11</RefSource>
<PMID Version="1">16251215</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):422-3</RefSource>
<PMID Version="1">16436781</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2006 Jan 26;354(4):424-5</RefSource>
<PMID Version="1">16436782</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2006 Feb;59(2):388-93</RefSource>
<PMID Version="1">16437559</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2006 Feb;59(2):315-22</RefSource>
<PMID Version="1">16437584</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Trends Mol Med. 2006 Feb;12(2):76-82</RefSource>
<PMID Version="1">16406842</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2006 Jul;7(3):133-8</RefSource>
<PMID Version="1">16633828</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2006 Aug;21(8):1102-8</RefSource>
<PMID Version="1">16622854</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2006 Sep;63(9):1242-6</RefSource>
<PMID Version="1">16966501</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2006 Oct;12(7):410-9</RefSource>
<PMID Version="1">16750929</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Science. 2006 Oct 6;314(5796):130-3</RefSource>
<PMID Version="1">17023659</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2006 Oct 24;67(8):1506-8</RefSource>
<PMID Version="1">17060589</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2000 Sep;59(9):830-41</RefSource>
<PMID Version="1">11005264</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000595">Amino Acid Sequence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005799">Genes, Dominant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006624">Hippocampus</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002479">Inclusion Bodies</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000737">chemistry</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008969">Molecular Sequence Data</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020125">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016874">Neurofibrillary Tangles</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010766">Phosphorylation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010768">Phosphoserine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000032">analysis</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017354">Point Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011499">Protein Processing, Post-Translational</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000737">chemistry</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016415">Sequence Alignment</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017386">Sequence Homology, Amino Acid</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013702">Temporal Lobe</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000032">analysis</QualifierName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">NIHMS65718</OtherID>
<OtherID Source="NLM">PMC2634827</OtherID>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year>
<Month>11</Month>
<Day>14</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2009</Year>
<Month>6</Month>
<Day>6</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2008</Year>
<Month>11</Month>
<Day>14</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.22096</ArticleId>
<ArticleId IdType="pubmed">19006185</ArticleId>
<ArticleId IdType="pmc">PMC2634827</ArticleId>
<ArticleId IdType="mid">NIHMS65718</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001F36 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 001F36 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Curation |type= RBID |clé= pubmed:19006185 |texte= Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:19006185" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |