MovDisordV3, France, Analysis, bibRecord, 000251

Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Identifieur interne : 000251 ( France/Analysis ); précédent : 000250; suivant : 000252

Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Auteurs : Diane Doummar [France] ; Fabienne Clot [France] ; Marie Vidailhet [France] ; Alexandra Afenjar [France] ; Alexandra Durr [France] ; Alexis Brice [France] ; Cyril Mignot [France] ; Agnès Guet [France] ; Thierry Billette De Villemeur [France] ; Diana Rodriguez [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-04-30.

RBID : ISTEX:0019070C648EBE2495CE4F18BF3FE05C18F0388D

English descriptors

KwdEn :
- DNA Mutational Analysis, Female, Homovanillic Acid (metabolism), Humans, Hydroxyindoleacetic Acid (metabolism), Infant, Muscle Hypotonia (genetics), Muscle Hypotonia (metabolism), Muscle Hypotonia (physiopathology), Mutation (genetics), Tyrosine 3-Monooxygenase (genetics).
MESH :
- chemical , genetics : Tyrosine 3-Monooxygenase.
- chemical , metabolism : Homovanillic Acid, Hydroxyindoleacetic Acid.
- genetics : Muscle Hypotonia, Mutation.
- metabolism : Muscle Hypotonia.
- physiopathology : Muscle Hypotonia.
- DNA Mutational Analysis, Female, Humans, Infant.

Url:

https://api.istex.fr/document/0019070C648EBE2495CE4F18BF3FE05C18F0388D/fulltext/pdf

DOI: 10.1002/mds.22455

Affiliations:

Links to Exploration step

ISTEX:0019070C648EBE2495CE4F18BF3FE05C18F0388D

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene</title>
<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
</author>
<author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</author>
<author><name sortKey="Afenjar, Alexandra" sort="Afenjar, Alexandra" uniqKey="Afenjar A" first="Alexandra" last="Afenjar">Alexandra Afenjar</name>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
</author>
<author><name sortKey="Guet, Agnes" sort="Guet, Agnes" uniqKey="Guet A" first="Agnès" last="Guet">Agnès Guet</name>
</author>
<author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:0019070C648EBE2495CE4F18BF3FE05C18F0388D</idno>
<date when="2009" year="2009">2009</date>
<idno type="doi">10.1002/mds.22455</idno>
<idno type="url">https://api.istex.fr/document/0019070C648EBE2495CE4F18BF3FE05C18F0388D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002487</idno>
<idno type="wicri:Area/Istex/Curation">002487</idno>
<idno type="wicri:Area/Istex/Checkpoint">000E54</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Doummar D:infantile:hypokinetic:hypotonic</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:19224593</idno>
<idno type="wicri:Area/PubMed/Corpus">001E22</idno>
<idno type="wicri:Area/PubMed/Curation">001E22</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001D58</idno>
<idno type="wicri:Area/Ncbi/Merge">002555</idno>
<idno type="wicri:Area/Ncbi/Curation">002555</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002555</idno>
<idno type="wicri:Area/Main/Merge">002B13</idno>
<idno type="wicri:Area/Main/Curation">002252</idno>
<idno type="wicri:Area/Main/Exploration">002252</idno>
<idno type="wicri:Area/France/Extraction">000251</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene</title>
<author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Département de Génétique et Cytogénétique, Hôpital Pitié Salpêtrière, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Département de Neurologie, Hôpital Pitié‐Salpêtrière, INSERM UMR_S679, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Afenjar, Alexandra" sort="Afenjar, Alexandra" uniqKey="Afenjar A" first="Alexandra" last="Afenjar">Alexandra Afenjar</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Département de Génétique et Cytogénétique, Hôpital Pitié Salpêtrière, INSERM UMR_S679, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Département de Génétique et Cytogénétique, Hôpital Pitié Salpêtrière, INSERM UMR_S679, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guet, Agnes" sort="Guet, Agnes" uniqKey="Guet A" first="Agnès" last="Guet">Agnès Guet</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>AP‐HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, Université Pierre et Marie Curie‐Paris 6, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2009-04-30">2009-04-30</date>
<biblScope unit="vol">24</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="943">943</biblScope>
<biblScope unit="page" to="945">945</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">0019070C648EBE2495CE4F18BF3FE05C18F0388D</idno>
<idno type="DOI">10.1002/mds.22455</idno>
<idno type="ArticleID">MDS22455</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Homovanillic Acid (metabolism)</term>
<term>Humans</term>
<term>Hydroxyindoleacetic Acid (metabolism)</term>
<term>Infant</term>
<term>Muscle Hypotonia (genetics)</term>
<term>Muscle Hypotonia (metabolism)</term>
<term>Muscle Hypotonia (physiopathology)</term>
<term>Mutation (genetics)</term>
<term>Tyrosine 3-Monooxygenase (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Tyrosine 3-Monooxygenase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Homovanillic Acid</term>
<term>Hydroxyindoleacetic Acid</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Muscle Hypotonia</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Muscle Hypotonia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle Hypotonia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name>
</noRegion>
<name sortKey="Afenjar, Alexandra" sort="Afenjar, Alexandra" uniqKey="Afenjar A" first="Alexandra" last="Afenjar">Alexandra Afenjar</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name>
<name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
<name sortKey="Guet, Agnes" sort="Guet, Agnes" uniqKey="Guet A" first="Agnès" last="Guet">Agnès Guet</name>
<name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name>
<name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000251 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000251 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     ISTEX:0019070C648EBE2495CE4F18BF3FE05C18F0388D
   |texte=   Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.