(Q43234468)

16 November 2017

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (English)

1 reference

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

16 November 2017

corrigendum / erratum

0 references

Gerald Pfeffer

2

0 references

Rita Horvath

object named as

Rita Horvath

series ordinal

6

0 references

Patrick Yu-Wai-Man

series ordinal

8

object named as

Patrick Yu-Wai-Man

1 reference

16 November 2017

7

Patrick F Chinnery

1 reference

16 November 2017

3

Maura Bailie

1 reference

16 November 2017

4

Karen Bradshaw

1 reference

16 November 2017

Grant Guthrie

1

1 reference

16 November 2017

Andrew C Browning

series ordinal

5

1 reference

16 November 2017

language of work or name

1 reference

13 December 2012

1 reference

16 November 2017

1 reference

16 November 2017

260

1 reference

16 November 2017

3

1 reference

16 November 2017

906-909

1 reference

Creative Commons Attribution 2.0 Generic

16 November 2017

start time

13 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

The AAA ATPase spastin links microtubule severing to membrane modelling.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Mitochondria: the next (neurode)generation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Classification of the hereditary ataxias and paraplegias

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590400

Subtle cognitive impairment but no dementia in patients with spastin mutations

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23238845

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-012-6780-3

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

23238845

1 reference