(Q36615500)

15 August 2017

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy (English)

1 reference

neurodevelopmental disorder

15 August 2017

0 references

1 reference

Ectopic P-granules autophagy protein 5 Dmel_CG14299

inferred from title

1 reference

GOA release 2020-03-11

1 reference

28

Ada Hamosh

1 reference

15 August 2017

Susan Byrne

1

0 references

Istvan Bodi

Istvan Bodi

6

0 references

Kevin M. Flanigan

Kevin M Flanigan

16

0 references

Mathias Gautel

Mathias Gautel

53

0 references

Monique Ryan

Monique M Ryan

41

0 references

Carlo Dionisi-Vici

Carlo Dionisi-Vici

10

0 references

Heinz Jungbluth

Heinz Jungbluth

54

0 references

Martin Zenker

50

Martin Zenker

1 reference

15 August 2017

11

Lihadh Al-Gazali

1 reference

15 August 2017

43

Catriona A McLean

1 reference

15 August 2017

Lara Jansen

2

1 reference

15 August 2017

Jean-Marie U-King-Im

3

1 reference

15 August 2017

Ata Siddiqui

4

1 reference

15 August 2017

Hart G W Lidov

5

1 reference

15 August 2017

Luke Smith

7

1 reference

15 August 2017

Rachael Mein

8

1 reference

15 August 2017

Thomas Cullup

9

1 reference

15 August 2017

Mohammed Al-Owain

12

1 reference

15 August 2017

Zandre Bruwer

13

1 reference

15 August 2017

Khalid Al Thihli

14

1 reference

15 August 2017

Rana El-Garhy

15

1 reference

15 August 2017

Kandamurugu Manickam

17

1 reference

15 August 2017

Erik Zmuda

18

1 reference

15 August 2017

Wesley Banks

19

1 reference

15 August 2017

Ruth Gershoni-Baruch

20

1 reference

15 August 2017

Hanna Mandel

21

1 reference

15 August 2017

Efrat Dagan

22

1 reference

15 August 2017

Annick Raas-Rothschild

23

1 reference

15 August 2017

Hila Barash

24

1 reference

15 August 2017

Francis Filloux

25

1 reference

15 August 2017

Donnell Creel

26

1 reference

15 August 2017

Michael Harris

27

1 reference

15 August 2017

Stefan Kölker

29

1 reference

15 August 2017

Darius Ebrahimi-Fakhari

30

1 reference

15 August 2017

Georg F Hoffmann

31

1 reference

15 August 2017

David Manchester

32

1 reference

15 August 2017

Philip J Boyer

33

1 reference

15 August 2017

Adnan Y Manzur

34

1 reference

15 August 2017

Charles Marques Lourenco

35

1 reference

15 August 2017

Daniela T Pilz

36

1 reference

15 August 2017

Arveen Kamath

37

1 reference

15 August 2017

Prab Prabhakar

38

1 reference

15 August 2017

Vamshi K Rao

39

1 reference

15 August 2017

R Curtis Rogers

40

1 reference

15 August 2017

Natasha J Brown

42

1 reference

15 August 2017

Edith Said

44

1 reference

15 August 2017

Ulrike Schara

45

1 reference

15 August 2017

Anja Stein

46

1 reference

15 August 2017

Caroline Sewry

47

1 reference

15 August 2017

Laura Travan

48

1 reference

15 August 2017

Frits A Wijburg

49

1 reference

15 August 2017

Shehla Mohammed

51

1 reference

15 August 2017

Manolis Fanto

52

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 March 2016

1 reference

15 August 2017

1 reference

15 August 2017

139

1 reference

15 August 2017

Pt 3

1 reference

15 August 2017

765-781

1 reference

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

The associations between Parkinson's disease and cancer: the plot thickens

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

The Pro-apoptotic STK38 Kinase Is a New Beclin1 Partner Positively Regulating Autophagy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Pathogenic mechanisms in centronuclear myopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

30 September 2017

The neurology of mTOR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

The significance of GBA for Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Ophthalmologic features of Vici syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

The role of autophagy in neurodegenerative disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Functional genomic screen of human stem cell differentiation reveals pathways involved in neurodevelopment and neurodegeneration.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Role of Epg5 in selective neurodegeneration and Vici syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Vici syndrome associated with sensorineural hearing loss and laryngomalacia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Guidelines for the use and interpretation of assays for monitoring autophagy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Autophagy in lysosomal myopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

C. elegans screen identifies autophagy genes specific to multicellular organisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Centronuclear (myotubular) myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Autophagy in the Pathogenesis of Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Autophagy: process 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=4766378

A block of autophagy in lysosomal storage disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

A novel role for autophagy in neurodevelopment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Ambra1 regulates autophagy and development of the nervous system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Drosophila in the study of neurodegenerative disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Polyglutamine Atrophin provokes neurodegeneration in Drosophila by repressing fat.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Chediak-Higashi syndrome with parkinsonism

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

MR findings in pontocerebellar hypoplasia

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Infantile neuroaxonal dystrophy: diagnosis by skin biopsy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Neurodegeneration by polyglutamine Atrophin is not rescued by induction of autophagy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766378

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

21 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV393

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV393

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV393

Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26917586

12 December 2020

inferred from PubMed ID database lookup

Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26917586

12 December 2020

inferred from PubMed ID database lookup

Vici syndrome associated with unilateral lung hypoplasia and myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26917586

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/BRAIN/AWV393

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

26917586

1 reference