A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 (Q57970882)

Marie-Claude Babron

7

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Anne-Louise Leutenegger

Anne-Louise Leutenegger

5

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Giovanni Stevanin

Giovanni Stevanin

12

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Sylvain Hanein

1

Sylvain Hanein

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author name string

Alexandra Dürr

2

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Pascale Ribai

3

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Sylvie Forlani

4

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Nizar Elleuch

8

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Christel Depienne

9

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Céline Charon

10

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Alexis Brice

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

11

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publication date

28 June 2007

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published in

Human Genetics

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volume

122

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issue

3-4

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page(s)

261-273

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cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0396-1

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0396-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0396-1

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

12 December 2020

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

1 reference

12 December 2020

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

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

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

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

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

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

12 December 2020

Classification of the hereditary ataxias and paraplegias

1 reference

12 December 2020

Clinical and genetic aspects of spinocerebellar degeneration

1 reference

12 December 2020

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

1 reference

12 December 2020

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

12 December 2020

Current insights into familial spastic paraparesis: new advances in an old disease

1 reference

12 December 2020

Hereditary "pure" spastic paraplegia: a study of nine families

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

Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

1 reference

12 December 2020

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

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

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees

1 reference

12 December 2020

Evidence of a third locus in X-linked recessive spastic paraplegia

1 reference

12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

1 reference

12 December 2020

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

12 December 2020

Regulation of PAX-6 gene transcription: alternate promoter usage in human brain.

1 reference

12 December 2020

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

1 reference

12 December 2020

Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1

1 reference

12 December 2020

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

1 reference

12 December 2020

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

1 reference

12 December 2020

Regulation of alpha-globin mRNA stability.

1 reference

12 December 2020

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes

1 reference

12 December 2020

Recent advances in hereditary spastic paraplegia

1 reference

12 December 2020

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

12 December 2020

Isoform-specific expression and function of neuregulin.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study

1 reference

12 December 2020

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study

1 reference

12 December 2020

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

1 reference

12 December 2020