(Q41920358)

14 October 2017

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss (English)

1 reference

Zinc finger HIT-type containing 3

14 October 2017

1 reference

Zinc finger, HIT-type containing 3

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

22

Anna-Elina Lehesjoki

1 reference

14 October 2017

9

Mikko Muona

1 reference

14 October 2017

20

Maria K Lehtinen

1 reference

14 October 2017

10

Saara Tegelberg

1 reference

14 October 2017

Anna-Kaisa Anttonen

1

1 reference

14 October 2017

Anni Laari

2

1 reference

14 October 2017

Maria Kousi

3

1 reference

14 October 2017

Yawei J Yang

4

1 reference

14 October 2017

Tiina Jääskeläinen

5

1 reference

14 October 2017

Mirja Somer

6

1 reference

14 October 2017

Eija Siintola

7

1 reference

14 October 2017

Eveliina Jakkula

8

1 reference

14 October 2017

Tuula Lönnqvist

11

1 reference

14 October 2017

Helena Pihko

12

1 reference

14 October 2017

Leena Valanne

13

1 reference

14 October 2017

Anders Paetau

14

1 reference

14 October 2017

Melody P Lun

15

1 reference

14 October 2017

Johanna Hästbacka

16

1 reference

14 October 2017

Outi Kopra

17

1 reference

14 October 2017

Tarja Joensuu

18

1 reference

14 October 2017

Nicholas Katsanis

19

1 reference

14 October 2017

Jorma J Palvimo

21

1 reference

14 October 2017

language of work or name

English

0 references

publication date

1 March 2017

1 reference

14 October 2017

1 reference

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

14 October 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Proteomic and 3D structure analyses highlight the C/D box snoRNP assembly mechanism and its control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

PEHO syndrome: a study of five Argentinian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Essential role of p18Hamlet/SRCAP-mediated histone H2A.Z chromatin incorporation in muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

JNK-interacting protein 3 mediates the retrograde transport of activated c-Jun N-terminal kinase and lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Purkinje cells and Bergmann glia are primary targets of the TRα1 thyroid hormone receptor during mouse cerebellum postnatal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

PEHO and PEHO-like syndromes: report of five Australian cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

An unliganded thyroid hormone receptor causes severe neurological dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Solution structure of the zinc finger HIT domain in protein FON

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

A signature motif in transcriptional co-activators mediates binding to nuclear receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Thyroid hormone action during brain development: more questions than answers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Thyroid hormone receptor interacting protein 3 (trip3) is a novel coactivator of hepatocyte nuclear factor-4alpha.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Nuclear receptor-coregulator interaction profiling identifies TRIP3 as a novel peroxisome proliferator-activated receptor gamma cofactor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

A conserved MST-FOXO signaling pathway mediates oxidative-stress responses and extends life span

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Thyroid hormone receptor beta mutation causes severe impairment of cerebellar development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Neuron-glia relationship during granule cell migration in developing cerebellar cortex. A Golgi and electronmicroscopic study in Macacus Rhesus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Protein Hit1, a novel box C/D snoRNP assembly factor, controls cellular concentration of the scaffolding protein Rsa1 by direct interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Diagnostic criteria and genetics of the PEHO syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWX040

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWX040

1 reference

14 October 2017

1 reference