Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort (Q39408122)

11 September 2017

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort (English)

1 reference

11 September 2017

G Yoon

1

1 reference

11 September 2017

B Baskin

2

1 reference

11 September 2017

M Tarnopolsky

3

1 reference

11 September 2017

K M Boycott

4

1 reference

11 September 2017

M T Geraghty

5

1 reference

11 September 2017

E Sell

6

1 reference

11 September 2017

S Goobie

7

1 reference

11 September 2017

W Meschino

8

1 reference

11 September 2017

B Banwell

9

1 reference

11 September 2017

P N Ray

10

1 reference

11 September 2017

4 June 2013

1 reference

11 September 2017

1 reference

11 September 2017

14

1 reference

11 September 2017

3-4

1 reference

11 September 2017

181-188

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-013-0366-9

11 September 2017

0 references

cites work

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0366-9

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

21 January 2018

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

1 reference

12 December 2020

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

1 reference

12 December 2020

Functional evaluation of paraplegin mutations by a yeast complementation assay

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects

1 reference

12 December 2020

10.1007/S10048-013-0366-9

Identifiers

DOI

1 reference

11 September 2017

1 reference