(Q24678204)

1

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A Danek

2

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C Stone

3

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R Chalmers

4

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N Wood

5

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C Verellen

6

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X Ferrer

7

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A Malandrini

8

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G M Fabrizi

9

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M Manfredi

10

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J Vance

11

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M Pericak-Vance

12

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R Brown

13

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G Rudolf

14

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F Picard

15

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E Alonso

16

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M Brin

17

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A H Németh

18

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M Farrall

19

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A P Monaco

American Journal of Human Genetics

20

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language of work or name

English

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publication date

October 1997

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published in

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volume

61

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issue

4

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page(s)

899-908

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cites work

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Strategies for multilocus linkage analysis in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Malformation of the erythrocytes in a case of atypical retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

An EST and STS-based YAC contig map of human chromosome 9q22.3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Hereditary neurological disease with acanthocytosis. A new syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

The Kell blood group system and the McLeod phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Excitatory amino acids as a final common pathway for neurologic disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Amyotrophic choreoacanthocytosis: is it really a very rare disease?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Chorea-acanthocytosis: a report of three new families and implications for genetic counselling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Acanthocytosis and neurological impairment--a review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Molecular cloning and characterization of human fetal liver tropomodulin. A tropomyosin-binding protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Morphometric studies of the neuropathological changes in choreatic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Neuroacanthocytosis syndrome, apraxia of eyelid opening, and progressive supranuclear palsy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Evoked potentials in choreoacanthocytosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Chorea-acanthocytosis: Abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

A pedigree of amyotrophic chorea with acanthocytosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715977

Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis

28 November 2018

1 reference

12 December 2020

A further case of choreo-acanthocytosis

1 reference

12 December 2020

Chorea-acanthocytosis: report of a family and neuropathological study of two cases

1 reference

12 December 2020

Parkinsonism with neuroacanthocytosis

1 reference

12 December 2020

[Choreo-acanthocytosis]

1 reference

12 December 2020

Homozygosity mapping: familiarity breeds debility

1 reference

12 December 2020

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

1 reference

12 December 2020

A family of McLeod syndrome, masquerading as chorea-acanthocytosis

1 reference

12 December 2020

The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia

1 reference

12 December 2020

A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis

1 reference

12 December 2020