(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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14 January 2018

C Criscuolo

2

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14 January 2018

A Magariello

3

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14 January 2018

G De Michele

4

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14 January 2018

V Scarano

5

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14 January 2018

P D'Adamo

6

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14 January 2018

G Ambrosio

7

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14 January 2018

A L Gabriele

8

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14 January 2018

A Patitucci

9

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14 January 2018

T Sprovieri

12

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14 January 2018

L Morgante

13

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14 January 2018

A Epifanio

14

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14 January 2018

P La Spina

15

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14 January 2018

P Valentino

16

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14 January 2018

P Gasparini

17

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14 January 2018

A Filla

18

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14 January 2018

A Quattrone

19

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14 January 2018

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

issue

1

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14 January 2018

page(s)

49-54

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14 January 2018

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

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

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