Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (Q47339643)

14 January 2018

title

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. (English)

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14 January 2018

author

Rosalucia Mazzei

10

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14 January 2018

Francesca Luisa Conforti

11

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14 January 2018

author name string

M Muglia

1

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C Criscuolo

2

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A Magariello

3

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G De Michele

4

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V Scarano

5

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P D'Adamo

6

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G Ambrosio

7

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A L Gabriele

8

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A Patitucci

9

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T Sprovieri

12

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L Morgante

13

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A Epifanio

14

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P La Spina

15

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P Valentino

16

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P Gasparini

17

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A Filla

18

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A Quattrone

19

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publication date

5 December 2003

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14 January 2018

published in

Neurogenetics

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14 January 2018

volume

5

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14 January 2018

page(s)

49-54

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issue

1

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https://scigraph.springernature.com/pub.10.1007/s10048-003-0167-7

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-003-0167-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-003-0167-7

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-003-0167-7

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-003-0167-7

Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-003-0167-7

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

21 January 2018

1 reference

12 December 2020

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

1 reference

12 December 2020

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

1 reference

12 December 2020

Classification of the hereditary ataxias and paraplegias

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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

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

1 reference

12 December 2020

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

1 reference

12 December 2020

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

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

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

1 reference

12 December 2020

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

1 reference

12 December 2020

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

1 reference

12 December 2020

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

12 December 2020

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

1 reference

12 December 2020

10.1007/S10048-003-0167-7

Identifiers

DOI

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14 January 2018

PubMed ID

14658060

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14 January 2018