Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. (Q48456462)

http://europepmc.org/abstract/MED/27785568

11 February 2018

title

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. (English)

1 reference

http://europepmc.org/abstract/MED/27785568

11 February 2018

author

Federica Invernizzi

3

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3 June 2020

Daniele Ghezzi

19

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3 June 2020

Giuseppe Fiermonte

5

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Marcello Niceta

6

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Angelo Vozza

9

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Michela Di Nottia

11

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Eleonora Lamantea

12

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Daria Diodato

13

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Marco Tartaglia

14

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Carlo Dionisi-Vici

15

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Enrico Bertini

18

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3 June 2020

4

Teresa Rizza

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8

Diego Martinelli

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3 June 2020

1

Alessandra Torraco

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10

Daniela Verrigni

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20

Rosalba Carrozzo

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2

Anna Ardissone

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3 June 2020

author name string

Nadia Zanetti

7

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Laura Farina

17

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Isabella Moroni

16

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publication date

26 October 2016

1 reference

http://europepmc.org/abstract/MED/27785568

11 February 2018

published in

Journal of Neurology

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volume

264

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3 June 2020

page(s)

102-111

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3 June 2020

issue

1

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https://scigraph.springernature.com/pub.10.1007/s00415-016-8312-z

3 June 2020

exact match

0 references

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

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PubMed

https://pubmed.ncbi.nlm.nih.gov/27785568

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-016-8312-Z

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27785568%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference