Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations (Q42236974)

19 October 2017

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations (English)

1 reference

19 October 2017

1 reference

Michela Di Nottia

11

0 references

Andrea Legati

Andrea Legati

4

0 references

Alessia Nasca

Alessia Nasca

1

0 references

Andrea Ciolfi

Andrea Ciolfi

5

0 references

Chiara Aiello

Chiara Aiello

10

0 references

Daniele Ghezzi

Daniele Ghezzi

22

0 references

Enrico Bertini

Enrico Bertini

17

0 references

Eleonora Lamantea

Eleonora Lamantea

9

0 references

Costanza Lamperti

13

Costanza Lamperti

1 reference

19 October 2017

18

Isabella Moroni

1 reference

19 October 2017

16

Giancarlo Iarossi

1 reference

19 October 2017

12

Marcello Niceta

1 reference

19 October 2017

2

Teresa Rizza

1 reference

19 October 2017

14

Anna Ardissone

1 reference

19 October 2017

21

Rosalba Carrozzo

1 reference

19 October 2017

Mara Doimo

3

1 reference

19 October 2017

Daria Diodato

6

1 reference

19 October 2017

Cristina Calderan

7

1 reference

19 October 2017

Gianfranco Carrara

8

1 reference

19 October 2017

Stefania Bianchi-Marzoli

15

1 reference

19 October 2017

Marco Tartaglia

19

1 reference

19 October 2017

Leonardo Salviati

20

1 reference

19 October 2017

12 May 2017

1 reference

Orphanet Journal of Rare Diseases

19 October 2017

1 reference

19 October 2017

12

1 reference

19 October 2017

1

1 reference

19 October 2017

89

1 reference

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Mutations in ZBTB20 cause Primrose syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

A general framework for estimating the relative pathogenicity of human genetic variants

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Multi-system neurological disease is common in patients with OPA1 mutations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

GeneDistiller--distilling candidate genes from linkage intervals

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

'Behr syndrome' with OPA1 compound heterozygote mutations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5427524

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

3 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28494813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28494813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-017-0641-1

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference

19 October 2017

PubMed publication ID

28494813

1 reference