(Q90612034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31597037%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

title

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease (English)

1 reference

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15 April 2020

1 reference

19

1 reference

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15 April 2020

Laura L Cornelissen

20

1 reference

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15 April 2020

Timothy W Yu

48

1 reference

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15 April 2020

41

Annapurna Poduri

1 reference

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15 April 2020

author name string

Jinkuk Kim

1

1 reference

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15 April 2020

Chunguang Hu

2

1 reference

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15 April 2020

Christelle Moufawad El Achkar

3

1 reference

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15 April 2020

Lauren E Black

4

1 reference

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15 April 2020

Julie Douville

5

1 reference

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15 April 2020

Austin Larson

6

1 reference

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15 April 2020

Mary K Pendergast

7

1 reference

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15 April 2020

Sara F Goldkind

8

1 reference

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15 April 2020

Eunjung A Lee

9

1 reference

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15 April 2020

Ashley Kuniholm

10

1 reference

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15 April 2020

Aubrie Soucy

11

1 reference

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15 April 2020

Jai Vaze

12

1 reference

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15 April 2020

Nandkishore R Belur

13

1 reference

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15 April 2020

Kristina Fredriksen

14

1 reference

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15 April 2020

Iva Stojkovska

15

1 reference

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15 April 2020

Alla Tsytsykova

16

1 reference

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15 April 2020

Myriam Armant

17

1 reference

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15 April 2020

Renata L DiDonato

18

1 reference

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15 April 2020

Luis M Pereira

21

1 reference

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15 April 2020

Erika F Augustine

22

1 reference

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15 April 2020

Casie A Genetti

23

1 reference

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15 April 2020

Kira Dies

24

1 reference

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15 April 2020

Brenda Barton

25

1 reference

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15 April 2020

Lucinda Williams

26

1 reference

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15 April 2020

Benjamin D Goodlett

27

1 reference

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15 April 2020

Bobbie L Riley

28

1 reference

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15 April 2020

Amy Pasternak

29

1 reference

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15 April 2020

Emily R Berry

30

1 reference

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15 April 2020

Kelly A Pflock

31

1 reference

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15 April 2020

Stephen Chu

32

1 reference

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15 April 2020

Chantal Reed

33

1 reference

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15 April 2020

Kimberly Tyndall

34

1 reference

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15 April 2020

Pankaj B Agrawal

35

1 reference

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15 April 2020

Alan H Beggs

36

1 reference

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15 April 2020

P Ellen Grant

37

1 reference

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15 April 2020

David K Urion

38

1 reference

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15 April 2020

Richard O Snyder

39

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15 April 2020

Susan E Waisbren

40

1 reference

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15 April 2020

Peter J Park

42

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15 April 2020

Al Patterson

43

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15 April 2020

Alessandra Biffi

44

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15 April 2020

Joseph R Mazzulli

45

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15 April 2020

Olaf Bodamer

46

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15 April 2020

Charles B Berde

47

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15 April 2020

language of work or name

English

0 references

publication date

9 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31597037%20AND%20SRC:MED&resulttype=core&format=json

The New England Journal of Medicine

15 April 2020

published in

1 reference

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15 April 2020

volume

381

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15 April 2020

issue

17

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15 April 2020

page(s)

1644-1652

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RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

15 April 2020

cites work

1 reference

12 December 2020

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

1 reference

12 December 2020

dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans

1 reference

12 December 2020

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

12 December 2020

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

1 reference

12 December 2020

Clinical research for rare disease: opportunities, challenges, and solutions

1 reference

12 December 2020

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Exon-trapping mediated by the human retrotransposon SVA.

1 reference

12 December 2020

Reading TE leaves: new approaches to the identification of transposable element insertions

1 reference

12 December 2020

Landscape of somatic retrotransposition in human cancers

1 reference

12 December 2020

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

1 reference

12 December 2020

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

1 reference

12 December 2020

Hepatotoxic potential of therapeutic oligonucleotides can be predicted from their sequence and modification pattern

1 reference

12 December 2020

Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates

1 reference

12 December 2020

Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides

1 reference

12 December 2020

Human NCL Neuropathology

1 reference

12 December 2020

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

1 reference

12 December 2020

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7

1 reference

12 December 2020

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

1 reference

12 December 2020

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

1 reference

12 December 2020

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

1 reference

12 December 2020

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients.

1 reference

12 December 2020

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease

1 reference

12 December 2020

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA1813279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31597037%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

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