(Q24632247)

Margaret A. Pericak-Vance

inferred from title

author

0 references

Evan Reid

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Allison Ashley-Koch

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Douglas A Marchuk

1 reference

ORCID Public Data File 2021

author name string

Mark Kloos

0 references

Lori Hughes

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Simon Bevan

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Ingrid K Svenson

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Felicia Lennon Graham

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Perry C Gaskell

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Andrew Dearlove

0 references

David C Rubinsztein

American Journal of Human Genetics

0 references

language of work or name

English

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publication date

November 2002

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published in

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volume

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issue

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page(s)

1189-94

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Chromosomal localization reveals three kinesin heavy chain genes in mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Structure of a fast kinesin: implications for ATPase mechanism and interactions with microtubules

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

A structural pathway for activation of the kinesin motor ATPase.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

KIF5C, a novel neuronal kinesin enriched in motor neurons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

The molecular basis of genetic dominance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Kinesin and dynein superfamily proteins and the mechanism of organelle transport

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Kinesin molecular motors: transport pathways, receptors, and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Hereditary spastic paraparesis: a review of new developments.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Microtubule-based transport systems in neurons: the roles of kinesins and dyneins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

The hereditary spastic paraplegias.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Motor proteins of the kinesin family. Structures, variations, and nucleotide binding sites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Loss of function of Saccharomyces cerevisiae kinesin-related CIN8 and KIP1 is suppressed by KAR3 motor domain mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Cloning by insertional mutagenesis of a cDNA encoding Caenorhabditis elegans kinesin heavy chain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Kinesin heavy chain is essential for viability and neuromuscular functions in Drosophila, but mutants show no defects in mitosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385095

Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12355402

12 December 2020

inferred from PubMed ID database lookup

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12355402

12 December 2020

inferred from PubMed ID database lookup

Hereditary spastic paraplegia: the pace quickens

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12355402

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/344210

1 reference

1 reference

1 reference

PubMed publication ID

12355402

1 reference