(Q24563790)

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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 (English)

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author name string

Kimberly A Hahn

1

author given names

Kimberly A

author last names

Hahn

1 reference

PubMed publication ID

23 March 2024

Gajja S Salomons

2

author given names

Gajja S

author last names

Salomons

1 reference

PubMed publication ID

23 March 2024

Darci Tackels-Horne

3

author given names

Darci

author last names

Tackels-Horne

1 reference

PubMed publication ID

23 March 2024

Tim C Wood

4

author given names

Tim C

author last names

Wood

1 reference

PubMed publication ID

23 March 2024

Harold A Taylor

5

author given names

Harold A

author last names

Taylor

1 reference

PubMed publication ID

23 March 2024

Richard J Schroer

6

author given names

Richard J

author last names

Schroer

1 reference

PubMed publication ID

23 March 2024

Herbert A Lubs

7

author given names

Herbert A

author last names

Lubs

1 reference

PubMed publication ID

23 March 2024

Cornelis Jakobs

8

author given names

Cornelis

author last names

Jakobs

1 reference

PubMed publication ID

23 March 2024

Rick L Olson

9

author given names

Rick L

author last names

Olson

1 reference

PubMed publication ID

23 March 2024

Kenton R Holden

10

author given names

Kenton R

author last names

Holden

1 reference

PubMed publication ID

23 March 2024

Roger E Stevenson

11

author given names

Roger E

author last names

Stevenson

1 reference

PubMed publication ID

23 March 2024

Charles E Schwartz

12

author given names

Charles E

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Schwartz

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PubMed publication ID

23 March 2024

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publication date

May 2002

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American Journal of Human Genetics

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70

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5

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1349-56

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Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

1 reference

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24 March 2017

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

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24 March 2017

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

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24 March 2017

Renpenning syndrome maps to Xp11.

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24 March 2017

Cloning, pharmacological characterization, and genomic localization of the human creatine transporter

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24 March 2017

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

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24 March 2017

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Easy calculations of lod scores and genetic risks on small computers

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7 April 2017

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

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27 September 2017

Monogenic causes of X-linked mental retardation.

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27 September 2017

XLMR genes: update 2000.

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27 September 2017

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

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27 September 2017

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27 September 2017

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

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27 September 2017

XLMR genes: update 1998.

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27 September 2017

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

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27 September 2017

Creatine kinase in non-muscle tissues and cells

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27 September 2017

X-linked mental retardation.

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27 September 2017

Allan-Herndon syndrome. I. Clinical studies

1 reference

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27 September 2017

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

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27 September 2017

An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967

1 reference

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27 September 2017

Arginine kinase expression and localization in growth cone migration.

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30 May 2018

A study of institutionalized mentally retarded patients in Manitoba. I: Classification and preventability.

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30 May 2018

The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School

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30 May 2018

X-linked mental retardation and verbal disability.

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30 May 2018

XLMR genes: update 1990.

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30 May 2018

Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970

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30 May 2018

High-throughput multi-analyte screening for renal disease using capillary electrophoresis

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28 November 2018

MECP2 is highly mutated in X-linked mental retardation

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28 November 2018

MECP2 mutation in male patients with non-specific X-linked mental retardation.

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28 November 2018

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

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28 November 2018

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

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28 November 2018

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

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7 January 2021

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