Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration (Q24613553)

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English	Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration	scientific article

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instance of

scholarly article

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title

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration (English)

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main subject

cerebellum

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author

Sabine Rudnik-Schöneborn

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4

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Jan Senderek

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8

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Luitgard Graul-Neumann

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13

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Klaus Zerres

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23

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Michael Yourshaw

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2

object named as

Michael Yourshaw

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Michael S. Salman

object named as

Michael S Salman

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9

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Monique Ryan

object named as

Monique M Ryan

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24

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Harry V Vinters

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21

object named as

Harry V Vinters

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Manuel Castro-Gago

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15

object named as

Manuel Castro-Gago

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Joanna C Jen

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26

object named as

Joanna C Jen

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Stanley F Nelson

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25

object named as

Stanley F Nelson

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author name string

Jijun Wan

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1

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Hafsa Mamsa

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3

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Manoj P Menezes

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5

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Ji Eun Hong

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6

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Derek W Leong

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7

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David Chitayat

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10

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Pavel Seeman

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11

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Arpad von Moers

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12

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Andrew J Kornberg

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14

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María-Jesús Sobrido

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16

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Masafumi Sanefuji

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17

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Perry B Shieh

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18

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Noriko Salamon

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19

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Ronald C Kim

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20

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Zugen Chen

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22

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language of work or name

English

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publication date

June 2012

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published in

Nature Genetics

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volume

44

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issue

6

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page(s)

704-8

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De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

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[Pontocerebellar hypoplasia type I and mitochondrial pathology]

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reference URL

https://pubmed.ncbi.nlm.nih.gov/22544365

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based on heuristic

inferred from PubMed ID database lookup

RNA exosome. Preface

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reference URL

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Familial pontocerebellar hypoplasia type I with anterior horn cell disease

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.2254

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1741649

Dimensions Publication ID

1022774728

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Fatcat ID

release_oei4xvvmw5ewpjct5zdf674xpq

1 reference

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retrieved

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1741649

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1741649

PMC publication ID

3366034

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1741649

PubMed publication ID

22544365

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1741649

ResearchGate publication ID

232790513

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