(Q28141185)

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N Fonknechten

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D Mavel

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C Paternotte

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D Samson

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F Artiguenave

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C S Davoine

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P Wincker

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P Brottier

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V Barbe

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J M Burgunder

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J F Prud'homme

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B Fontaine

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B Heilig

Pure hereditary spastic paraplegia.

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language of work or name

English

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publication date

November 1999

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296-303

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cites work

1 reference

7 January 2021

Classification of the hereditary ataxias and paraplegias

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7 January 2021

Hereditary spastic paraplegia in Western Norway.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

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

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7 January 2021

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

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7 January 2021

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

1 reference

7 January 2021

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

1 reference

7 January 2021

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia

1 reference

7 January 2021

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

7 January 2021

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

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7 January 2021

A 200‐amino acid ATPase module in search of a basic function

1 reference

7 January 2021

The AAA team: related ATPases with diverse functions

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7 January 2021

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

1 reference

7 January 2021

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

1 reference

7 January 2021

Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene

1 reference

7 January 2021

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

1 reference

7 January 2021

TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences

1 reference

7 January 2021

Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complex

1 reference

7 January 2021

Identification of a novel mammalian member of the NSF/CDC48p/Pas1p/TBP-1 family through heterologous expression in yeast

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7 January 2021

Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames

1 reference

7 January 2021

Prediction of complete gene structures in human genomic DNA

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7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

1 reference

7 January 2021

Predicting Pol II promoter sequences using transcription factor binding sites

1 reference

7 January 2021

Sequence analysis of the AAA protein family

1 reference

7 January 2021

1 reference

7 January 2021

Association of yeast SAP1, a novel member of the 'AAA' ATPase family of proteins, with the chromatin protein SIN1.

1 reference

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

7 January 2021

The evolution of the conserved ATPase domain (CAD): reconstructing the history of an ancient protein module

1 reference

7 January 2021

Proteasomes of the yeast S. cerevisiae: genes, structure and functions

1 reference

7 January 2021

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

7 January 2021

The molecular basis of genetic dominance

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7 January 2021

Genetic classification of primary neurodegenerative disease

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7 January 2021

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

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7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

1 reference

7 January 2021

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

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7 January 2021

An improved approach for construction of bacterial artificial chromosome libraries.

1 reference

7 January 2021

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

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7 January 2021

Genotator: a workbench for sequence annotation

1 reference

7 January 2021