(Q36301666)

13 August 2017

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy (English)

1 reference

autosomal dominant cerebellar ataxia, deafness and narcolepsy

13 August 2017

0 references

0 references

1 reference

Birgitte Rahbek Kornum

Birgitte R Kornum

4

0 references

Juliane Winkelmann

Juliane Winkelmann

1

0 references

Giuseppe Plazzi

Giuseppe Plazzi

6

0 references

Fabio Pizza

Fabio Pizza

10

0 references

Emmanuel Mignot

17

Emmanuel Mignot

1 reference

13 August 2017

5

Juliette Faraco

1 reference

13 August 2017

8

Ferdinando Cornelio

1 reference

13 August 2017

16

Tim M Strom

1 reference

13 August 2017

11

Francesca Poli

1 reference

13 August 2017

3

Barbara Schormair

1 reference

13 August 2017

15

Joachim Hallmayer

1 reference

13 August 2017

Ling Lin

2

1 reference

13 August 2017

Atle Melberg

7

1 reference

13 August 2017

Alexander E Urban

9

1 reference

13 August 2017

Fabian Grubert

12

1 reference

13 August 2017

Thomas Wieland

13

1 reference

13 August 2017

Elisabeth Graf

14

1 reference

13 August 2017

9 February 2012

1 reference

13 August 2017

Human Molecular Genetics

1 reference

13 August 2017

21

1 reference

13 August 2017

2205-2210

1 reference

13 August 2017

10

1 reference

Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Structural insight into maintenance methylation by mouse DNA methyltransferase 1 (Dnmt1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Dnmt1 structure and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Common variants in P2RY11 are associated with narcolepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Narcolepsy is strongly associated with the T-cell receptor alpha locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Ancora: a web resource for exploring highly conserved noncoding elements and their association with developmental regulatory genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Autosomal dominant cerebellar ataxia deafness and narcolepsy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Cutting edge: TCR stimulation is sufficient for induction of Foxp3 expression in the absence of DNA methyltransferase 1.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3465691

Hypocretin deficiency in familial symptomatic narcolepsy

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22328086

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS035

1 reference

13 August 2017

1 reference

13 August 2017

1 reference