(Q41933920)

14 October 2017

title

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

main subject

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12

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14 October 2017

13

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14 October 2017

22

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14 October 2017

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

1 reference

14 October 2017

Mara Doimo

4

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Alessandra Tessa

6

Alessandra Tessa

1 reference

14 October 2017

7

Teresa Rizza

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14 October 2017

3

Marzia Bianchi

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14 October 2017

Maria Chiara Meschini

9

Maria Chiara Meschini

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14 October 2017

Denise Cassandrini

1

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14 October 2017

Maria Roberta Cilio

2

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14 October 2017

Martina Balestri

5

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14 October 2017

Geppo Sartori

8

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14 October 2017

Claudio Bruno

15

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14 October 2017

Leonardo Salviati

20

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14 October 2017

publication date

8 May 2012

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Journal of Inherited Metabolic Disease

14 October 2017

published in

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14 October 2017

volume

36

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14 October 2017

issue

1

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14 October 2017

page(s)

43-53

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Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

14 October 2017

cites work

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Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

21 January 2018

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Mammalian aminoacyl-tRNA synthetases: cell signaling functions of the protein translation machinery

21 January 2018

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

21 January 2018

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

21 January 2018

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Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

21 January 2018

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An investigation of the metabolism of isoleucine to active Amyl alcohol in Saccharomyces cerevisiae

21 January 2018

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A history of mitochondrial diseases.

21 January 2018

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

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Analysis of aminoacylation of human mitochondrial tRNAs

21 January 2018

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The use of neuroimaging in the diagnosis of mitochondrial disease.

21 January 2018

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Aminoacyl-tRNA synthetase complexes: molecular multitasking revealed

21 January 2018

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Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

21 January 2018

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Infantile-onset disorders of mitochondrial replication and protein synthesis

21 January 2018

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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

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Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

21 January 2018

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

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Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome

21 January 2018

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Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

21 January 2018

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Molecular genetics of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9487-9

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

21 January 2018

1 reference

12 December 2020

A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway

1 reference

12 December 2020

Modification of the Fiske and SubbaRow method for total phospholipid in serum

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12 December 2020

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Gastrointestinal complications of mitochondrial disease

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12 December 2020

Continuous spectrophotometric assay for aminoacyl-tRNA synthetases

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12 December 2020

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12 December 2020

Colorimetric assay for aminoacyl-tRNA synthetases

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12 December 2020

10.1007/S10545-012-9487-9

Identifiers

DOI

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Dimensions Publication ID

14 October 2017

1023166143

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