Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients (Q41933920)

14 October 2017

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients (English)

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pontocerebellar hypoplasia type 6

14 October 2017

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22

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Giulia Tozzi

11

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Fabiana Fattori

Fabiana Fattori

18

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Claudia Nesti

Claudia Nesti

10

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Luigi Bisceglia

Luigi Bisceglia

14

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Rosalba Carrozzo

Rosalba Carrozzo

19

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Adele D'Amico

Adele D'Amico

17

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Carlo Dionisi-Vici

Carlo Dionisi-Vici

16

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Filippo Maria Santorelli

21

Filippo M Santorelli

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Mara Doimo

4

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Alessandra Tessa

6

Alessandra Tessa

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7

Teresa Rizza

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3

Marzia Bianchi

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Maria Chiara Meschini

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Maria Chiara Meschini

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Denise Cassandrini

1

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Maria Roberta Cilio

2

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Martina Balestri

5

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Geppo Sartori

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Claudio Bruno

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Leonardo Salviati

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8 May 2012

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Journal of Inherited Metabolic Disease

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36

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43-53

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9487-9

14 October 2017

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

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10.1007/S10545-012-9487-9

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14 October 2017

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