(Q36124360)

12 August 2017

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia (English)

1 reference

12 August 2017

Philip M Boone

1

0 references

Feng Zhang

object named as

Feng Zhang

3

0 references

James R. Lupski

7

object named as

James R Lupski

1 reference

12 August 2017

Pengfei Liu

2

1 reference

12 August 2017

Claudia M B Carvalho

4

1 reference

12 August 2017

Charles F Towne

5

1 reference

12 August 2017

Sat Dev Batish

6

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 June 2011

1 reference

12 August 2017

1 reference

12 August 2017

13

1 reference

12 August 2017

6

1 reference

12 August 2017

582-592

1 reference

Detection of clinically relevant exonic copy-number changes by array CGH.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Copy number variation in human health, disease, and evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Complex human chromosomal and genomic rearrangements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Alterations of zinc transporter proteins ZnT-1, ZnT-4 and ZnT-6 in preclinical Alzheimer's disease brain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

A microhomology-mediated break-induced replication model for the origin of human copy number variation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Increased LIS1 expression affects human and mouse brain development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Abundant expression of zinc transporters in the amyloid plaques of Alzheimer's disease brain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Altered expression of zinc transporters-4 and -6 in mild cognitive impairment, early and late Alzheimer's disease brain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Human spastin has multiple microtubule-related functions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Functional characterization of a novel mammalian zinc transporter, ZnT6

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Initial sequencing and analysis of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Alu repeats and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Homology requirements for unequal crossing over in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407413

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

27 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Elevated zinc transporter-6 in mild cognitive impairment, Alzheimer disease, and pick disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182106775

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

12 December 2020

Clinical features of hereditary spastic paraplegia due to spastin mutation

1 reference

12 December 2020

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

1 reference

12 December 2020

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

1 reference

12 December 2020

Introductory comments on special section-genomic microduplications: When adding may equal subtracting

1 reference

12 December 2020

Challenges in clinical interpretation of microduplications detected by array CGH analysis

1 reference

12 December 2020

10.1097/GIM.0B013E3182106775

Identifiers

DOI

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

21659953

1 reference