MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000469

Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations

Identifieur interne : 000469 ( PascalFrancis/Checkpoint ); précédent : 000468; suivant : 000470

Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations

Auteurs : Salima Assami [Algérie] ; Hamid Azzedine [France] ; Sonia Nouioua [Algérie] ; Emeline Mundwiller [France] ; Soulaiman Mahoui [Algérie] ; Samira Makri ; Meriam Djemai [Algérie] ; Djamel Grid [France] ; Alexis Brice [France] ; Tarik Hamadouche [Algérie] ; Giovanni Stevanin [France] ; Meriem Tazir [Algérie]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0379831

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Pantothenate kinase, Homme, Mutation.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Human, Mutation, Nervous system diseases, Pantothenate kinase.

Affiliations:

Algérie, France
Paris

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

to stream PascalFrancis, to step Corpus: 000496
to stream PascalFrancis, to step Curation: 002822

Links to Exploration step

Pascal:11-0379831

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations</title>
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<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Algérie</country>
<wicri:noRegion>Algérie</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Pantothenate kinase</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Pantothenate kinase</term>
<term>Homme</term>
<term>Mutation</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<fA06><s2>9</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations</s1>
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<fA11 i1="01" i2="1"><s1>ASSAMI (Salima)</s1>
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<fA11 i1="02" i2="1"><s1>AZZEDINE (Hamid)</s1>
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<fA11 i1="03" i2="1"><s1>NOUIOUA (Sonia)</s1>
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<fA11 i1="04" i2="1"><s1>MUNDWILLER (Emeline)</s1>
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<fA11 i1="05" i2="1"><s1>MAHOUI (Soulaiman)</s1>
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<fA11 i1="06" i2="1"><s1>MAKRI (Samira)</s1>
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<fA11 i1="07" i2="1"><s1>DJEMAI (Meriam)</s1>
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<fA11 i1="08" i2="1"><s1>GRID (Djamel)</s1>
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<fA11 i1="09" i2="1"><s1>BRICE (Alexis)</s1>
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<fA11 i1="10" i2="1"><s1>HAMADOUCHE (Tarik)</s1>
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<fA11 i1="12" i2="1"><s1>TAZIR (Meriem)</s1>
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<fA14 i1="01"><s1>Department of Neurology, CHU Mustapha Bacha and Laboratoire de Neurosciences, Université d'Alger</s1>
<s2>Algérie</s2>
<s3>DZA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>INSERM, U975 (formerly U679)</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>UPMC Univ. Paris 6 UMR_S975, CNRS 7225, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Hôpital Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>EHS Ali Ait Idir</s1>
<s3>INC</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Service de Neurologie, CHU Bab el Oued</s1>
<s2>Algiers</s2>
<s3>DZA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Généthon</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>APHP, Department of Genetics, and Cytogenetics, Hôpital Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Laboratoire de Biologie Moléculaire, Université Mhamed Bougara</s1>
<s2>Boumerdes</s2>
<s3>DZA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Ecole Pratique des Hautes Etudes</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
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<fA20><s1>1777-1779</s1>
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<fA21><s1>2011</s1>
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<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000508939410400</s5>
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<fA44><s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
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<fA45><s0>7 ref.</s0>
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</fA47>
<fA60><s1>P</s1>
<s3>CR</s3>
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<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
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<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17F</s0>
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<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>01</s5>
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<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
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<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pantothenate kinase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Pantothenate kinase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Pantothenate kinase</s0>
<s2>FE</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Homme</s0>
<s5>10</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Human</s0>
<s5>10</s5>
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<fC03 i1="03" i2="X" l="SPA"><s0>Hombre</s0>
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<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>11</s5>
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<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>11</s5>
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<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
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<fN21><s1>262</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
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</inist>
<affiliations><list><country><li>Algérie</li>
<li>France</li>
</country>
<settlement><li>Paris</li>
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</list>
<tree><noCountry><name sortKey="Makri, Samira" sort="Makri, Samira" uniqKey="Makri S" first="Samira" last="Makri">Samira Makri</name>
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<country name="Algérie"><noRegion><name sortKey="Assami, Salima" sort="Assami, Salima" uniqKey="Assami S" first="Salima" last="Assami">Salima Assami</name>
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<name sortKey="Djemai, Meriam" sort="Djemai, Meriam" uniqKey="Djemai M" first="Meriam" last="Djemai">Meriam Djemai</name>
<name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</name>
<name sortKey="Mahoui, Soulaiman" sort="Mahoui, Soulaiman" uniqKey="Mahoui S" first="Soulaiman" last="Mahoui">Soulaiman Mahoui</name>
<name sortKey="Nouioua, Sonia" sort="Nouioua, Sonia" uniqKey="Nouioua S" first="Sonia" last="Nouioua">Sonia Nouioua</name>
<name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
</country>
<country name="France"><noRegion><name sortKey="Azzedine, Hamid" sort="Azzedine, Hamid" uniqKey="Azzedine H" first="Hamid" last="Azzedine">Hamid Azzedine</name>
</noRegion>
<name sortKey="Azzedine, Hamid" sort="Azzedine, Hamid" uniqKey="Azzedine H" first="Hamid" last="Azzedine">Hamid Azzedine</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Grid, Djamel" sort="Grid, Djamel" uniqKey="Grid D" first="Djamel" last="Grid">Djamel Grid</name>
<name sortKey="Mundwiller, Emeline" sort="Mundwiller, Emeline" uniqKey="Mundwiller E" first="Emeline" last="Mundwiller">Emeline Mundwiller</name>
<name sortKey="Mundwiller, Emeline" sort="Mundwiller, Emeline" uniqKey="Mundwiller E" first="Emeline" last="Mundwiller">Emeline Mundwiller</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations

Pantothenate Kinase-Associated Neurodegeneration: Clinical Description of 10 Patients and Identification of New Mutations

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