(Q41932917)

14 October 2017

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations (English)

1 reference

14 October 2017

Cathryn Poulton

1

1 reference

14 October 2017

Renske Oegema

2

1 reference

14 October 2017

Daphne Heijsman

3

1 reference

14 October 2017

Jeannette Hoogeboom

4

1 reference

14 October 2017

Rachel Schot

5

1 reference

14 October 2017

Hans Stroink

6

1 reference

14 October 2017

Michèl A Willemsen

7

1 reference

14 October 2017

Frans W Verheijen

8

1 reference

14 October 2017

Peter van de Spek

9

1 reference

14 October 2017

Andreas Kremer

10

1 reference

14 October 2017

Grazia M S Mancini

11

1 reference

14 October 2017

language of work or name

1 reference

9 December 2012

1 reference

14 October 2017

1 reference

14 October 2017

14

1 reference

14 October 2017

1

1 reference

14 October 2017

43-51

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-012-0351-8

14 October 2017

0 references

cites work

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

EX-HOM (EXome HOMozygosity): a proof of principle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Prenatal Diagnosis of Ataxia-telangiectasia and Nijmegen Breakage Syndrome by the Assay of Radioresistant DNA Synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Association of XRCC1 and tyrosyl DNA phosphodiesterase (Tdp1) for the repair of topoisomerase I-mediated DNA lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

DNA repair deficiency and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Dual modes of interaction between XRCC4 and polynucleotide kinase/phosphatase: implications for nonhomologous end joining

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Requirement for DNA ligase IV during embryonic neuronal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Differential DNA damage signaling accounts for distinct neural apoptotic responses in ATLD and NBS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0351-8

Single-strand break repair and genetic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23224214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exome sequencing can improve diagnosis and alter patient management

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23224214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Performance comparison of whole-genome sequencing platforms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23224214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-012-0351-8

1 reference

14 October 2017

1 reference