SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. (Q48739111)

15 February 2018

title

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. (English)

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1

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Giovanni Stevanin

3

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Jean-Louis Mandel

9

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Izzie-Jacques Namer

Izzie Jacques Namer

6

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Christine Tranchant

Christine Tranchant

11

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Alexandra Durr

5

Alexandra Durr

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8

Alexis Brice

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10

Michel Koenig

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Paola S Denora

7

Paola Denora

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author name string

Clotilde Lagier-Tourenne

2

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Marie Fleury

4

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publication date

1 January 2009

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15 February 2018

published in

Journal of Neurology

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15 February 2018

volume

256

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15 February 2018

page(s)

104-108

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issue

1

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https://scigraph.springernature.com/pub.10.1007/s00415-009-0083-3

exact match

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cites work

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-0083-3

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

21 January 2018

1 reference

12 December 2020

Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial spastic paraplegia with mental impairment and thin corpus callosum

1 reference

12 December 2020

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

1 reference

12 December 2020

Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum.

1 reference

12 December 2020

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum

1 reference

12 December 2020

Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.

1 reference

12 December 2020

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

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: clinical genetic study of 15 families.

1 reference

12 December 2020

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

1 reference

12 December 2020

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

1 reference

12 December 2020

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

1 reference

12 December 2020

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

1 reference

12 December 2020

10.1007/S00415-009-0083-3

Identifiers

DOI

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15 February 2018

PubMed ID

19224311

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15 February 2018