TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation (Q35992033)

11 August 2017

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation (English)

1 reference

hereditary spastic paraplegia

11 August 2017

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7

John Q Trojanowski

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11 August 2017

4

Leo McCluskey

1 reference

11 August 2017

Maria Martinez-Lage

1

1 reference

11 August 2017

Laura Molina-Porcel

2

1 reference

11 August 2017

Dana Falcone

3

1 reference

11 August 2017

Virginia M-Y Lee

5

1 reference

11 August 2017

Vivianna M Van Deerlin

6

1 reference

11 August 2017

1 August 2012

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11 August 2017

Acta Neuropathologica

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11 August 2017

124

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11 August 2017

2

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11 August 2017

285-291

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

A harmonized classification system for FTLD-TDP pathology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

DCTN1 mutations in Perry 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=3361549

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

The neuropathology and clinical phenotype of FTD with progranulin mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

A novel NIPA1 mutation associated with a pure form of 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=3361549

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Classification of the hereditary ataxias and paraplegias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Strümpell's familial spastic paraplegia: genetics and neuropathology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

11 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

Early-onset ALS with long-term survival associated with spastin gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361549

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

23 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0947-Y

Hereditary spastic paraplegia

21 January 2018

1 reference

12 December 2020

Childhood-onset spastic paraplegia with NIPAL gene mutation

1 reference

12 December 2020

Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

1 reference

12 December 2020

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

1 reference

12 December 2020

10.1007/S00401-012-0947-Y

Identifiers

DOI

1 reference

release_h5yhaufg3nf2vomstpfuygbzvi

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/h5yhaufg3nf2vomstpfuygbzvi

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

22302102

1 reference