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

https://scigraph.springernature.com/pub.10.1007/s00439-007-0396-1

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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exact match

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cites work

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

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

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

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

21 January 2018

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12 December 2020

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

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

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

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

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

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12 December 2020

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

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Strümpell's familial spastic paraplegia: genetics and neuropathology

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Classification of the hereditary ataxias and paraplegias

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Clinical and genetic aspects of spinocerebellar degeneration

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The phenotype of "pure" autosomal dominant spastic paraplegia

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

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

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

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

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

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Faster sequential genetic linkage computations

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

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

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12 December 2020

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

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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12 December 2020

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

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12 December 2020

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

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

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

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

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

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12 December 2020

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

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12 December 2020

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

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

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Regulation of alpha-globin mRNA stability.

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

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Hereditary spastic paraplegia

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

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Recent advances in hereditary spastic paraplegia

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

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Isoform-specific expression and function of neuregulin.

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

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020