Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations (Q41932917)

14 October 2017

title

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

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14 October 2017

8

Frans W Verheijen

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14 October 2017

Cathryn Poulton

1

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14 October 2017

Renske Oegema

2

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14 October 2017

Daphne Heijsman

3

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14 October 2017

Jeannette Hoogeboom

4

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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

Peter van de Spek

9

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14 October 2017

Andreas Kremer

10

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14 October 2017

Grazia M S Mancini

11

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14 October 2017

language of work or name

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9 December 2012

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14 October 2017

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14 October 2017

volume

14

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14 October 2017

issue

1

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14 October 2017

page(s)

43-51

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

14 October 2017

cites work

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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DNA repair deficiency and neurological disease

21 January 2018

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

21 January 2018

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Requirement for DNA ligase IV during embryonic neuronal development

21 January 2018

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

21 January 2018

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

21 January 2018

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Single-strand break repair and genetic disease

21 January 2018

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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

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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

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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