(Q48631028)

13 February 2018

title

A new phenotype linked to SPG27 and refinement of the critical region on chromosome. (English)

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13 February 2018

author

Giovanni Stevanin

2

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13 February 2018

Isabelle Nelson

5

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13 February 2018

Alexandra Durr

9

Alexandra Durr

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13 February 2018

10

Alexis Brice

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13 February 2018

3

Naima Bouslam

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13 February 2018

Pascale Ribai

1

Pascale Ribai

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13 February 2018

Thérèse Bertrand-Fontaine

6

Bertrand Fontaine

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13 February 2018

Céline Charon

8

Céline Charon

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13 February 2018

Christel Dussert

7

Christel Dussert

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13 February 2018

author name string

Bénédicte Pontier

4

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13 February 2018

publication date

6 March 2006

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13 February 2018

published in

Journal of Neurology

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13 February 2018

volume

253

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13 February 2018

issue

6

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13 February 2018

page(s)

714-719

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13 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-006-0094-2

exact match

0 references

cites work

Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome

1 reference

12 December 2020

The hereditary spastic paraplegias: nine genes and counting

1 reference

12 December 2020

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

12 December 2020

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

1 reference

12 December 2020

Familial spastic paraplegia with mental impairment and thin corpus callosum

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

1 reference

12 December 2020

Allegro, a new computer program for multipoint linkage analysis

1 reference

12 December 2020

Faster sequential genetic linkage computations

1 reference

12 December 2020

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

12 December 2020

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

1 reference

12 December 2020

Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

1 reference

12 December 2020

Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome

1 reference

12 December 2020

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

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

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

1 reference

12 December 2020

10.1007/S00415-006-0094-2

Identifiers

DOI

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13 February 2018

PubMed ID

16511635

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13 February 2018